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Elizabeth Berry-Kravis

TitleProfessor
InstitutionRush University, Rush Medical College
DepartmentNeurology
AddressChicago IL 60612
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    My Scopus ID is 7003985402.
    My NIH COMMONS name is EKRAVIS.

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    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. Robertson-Dick EE, Timm EC, Pal G, Ouyang B, Liu Y, Berry-Kravis E, Hall DA, O'Keefe JA. Digital gait markers to potentially distinguish fragile X-associated tremor/ataxia syndrome, Parkinson's disease, and essential tremor. Front Neurol. 2023; 14:1308698. PMID: 38162443.
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    2. Berry-Kravis E, Abbeduto L, Hagerman R, Coffey CS, Cudkowicz M, Erickson CA, McDuffie A, Hessl D, Ethridge LE, Tassone F, Kaufmann WE, Friedmann K, Bullard L, Hoffmann A, Veenstra-VanderWeele J, Staley K, Klements D, Moshinsky M, Harkey B, Long JD, Fedler J, Klingner E, Ecklund DJ, Costigan M, Huff T, Pearson B. Effects of AFQ056 on language learning in fragile X syndrome. J Clin Invest. 2023 Aug 31. PMID: 37651202.
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    3. Hong J, Dembo RS, DaWalt LS, Baker MW, Berry-Kravis E, Mailick MR. Mortality in Women across the FMR1 CGG Repeat Range: The Neuroprotective Effect of Higher Education. Cells. 2023 08 24; 12(17). PMID: 37681869.
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    4. Tjeertes J, Bacino CA, Bichell TJ, Bird LM, Bustamante M, Crean R, Jeste S, Komorowski RW, Krishnan ML, Miller MT, Nobbs D, Ochoa-Lubinoff C, Parkerson KA, Rotenberg A, Sadhwani A, Shen MD, Squassante L, Tan WH, Vincenzi B, Wheeler AC, Hipp JF, Berry-Kravis E. Enabling endpoint development for interventional clinical trials in individuals with Angelman syndrome: a prospective, longitudinal, observational clinical study (FREESIAS). J Neurodev Disord. 2023 07 26; 15(1):22. PMID: 37495977.
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    5. Cawley NX, Giddens S, Farhat NM, Luke RA, Scott KEJ, Mohamed HO, Dang Do A, Berry-Kravis E, Cologna SM, Liu F, Porter FD. Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1. Mol Genet Metab. 2023 11; 140(3):107656. PMID: 37517328.
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    6. Srivastava S, Sahin M, Buxbaum JD, Berry-Kravis E, Soorya LV, Thurm A, Bernstein JA, Asante-Otoo A, Bennett WE, Betancur C, Brickhouse TH, Passos Bueno MR, Chopra M, Christensen CK, Cully JL, Dies K, Friedman K, Gummere B, Holder JL, Jimenez-Gomez A, Kerins CA, Khan O, Kohlenberg T, Lacro RV, Levi LA, Levy T, Linnehan D, Eva L, Moshiree B, Neumeyer A, Paul SM, Phelan K, Persico A, Rapaport R, Rogers C, Saland J, Sethuram S, Shapiro J, Tarr PI, White KM, Wickstrom J, Williams KM, Winrow D, Wishart B, Kolevzon A. Updated consensus guidelines on the management of Phelan-McDermid syndrome. Am J Med Genet A. 2023 08; 191(8):2015-2044. PMID: 37392087.
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    7. Shah S, Sharp KJ, Raju Ponny S, Lee J, Watts JK, Berry-Kravis E, Richter JD. Antisense oligonucleotide rescue of CGG expansion-dependent FMR1 mis-splicing in fragile X syndrome restores FMRP. Proc Natl Acad Sci U S A. 2023 07 04; 120(27):e2302534120. PMID: 37364131.
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    8. Friedman L, Lauber M, Behroozmand R, Fogerty D, Kunecki D, Berry-Kravis E, Klusek J. Atypical vocal quality in women with the FMR1 premutation: an indicator of impaired sensorimotor control. Exp Brain Res. 2023 Aug; 241(8):1975-1987. PMID: 37347418.
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    9. Neul JL, Percy AK, Benke TA, Berry-Kravis EM, Glaze DG, Marsh ED, Lin T, Stankovic S, Bishop KM, Youakim JM. Trofinetide for the treatment of Rett syndrome: a randomized phase 3 study. Nat Med. 2023 Jun; 29(6):1468-1475. PMID: 37291210.
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    10. Abbeduto L, Del Hoyo Soriano L, Berry-Kravis E, Sterling A, Edgin JO, Abdelnur N, Drayton A, Hoffmann A, Hamilton D, Harvey DJ, Thurman AJ. Expressive language sampling and outcome measures for treatment trials in fragile X and down syndromes: composite scores and psychometric properties. Sci Rep. 2023 06 07; 13(1):9267. PMID: 37286643.
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    11. Dembo RS, Hong J, DaWalt LS, Berry-Kravis EM, Mailick MR. Health Effects of Sleep Quality in Premutation Carrier Mothers of Individuals With Fragile X Syndrome. Am J Intellect Dev Disabil. 2023 05 01; 128(3):254-268. PMID: 37104861.
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    12. Albert OK, Friedmann K, Jaeger R, Berry-Kravis E. Low Risk Profile of Long-Term Repeated Lumbar Puncture for Intrathecal Delivery of 2-Hydroxypropyl-Beta-Cyclodextrin in Patients With Niemann-Pick Type C. Pediatr Neurol. 2023 07; 144:99-103. PMID: 37201244.
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    13. Videnovic A, Pfeiffer HCV, Tylki-Szymanska A, Berry-Kravis E, Ezg? F, Ganju J, Jurecka A, Lang AE. Study design challenges and strategies in clinical trials for rare diseases: Lessons learned from pantothenate kinase-associated neurodegeneration. Front Neurol. 2023; 14:1098454. PMID: 36970548.
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    14. Campbell K, Cawley NX, Luke R, Scott KEJ, Johnson N, Farhat NY, Alexander D, Wassif CA, Li W, Cologna SM, Berry-Kravis E, Do AD, Dale RK, Porter FD. Identification of cerebral spinal fluid protein biomarkers in Niemann-Pick disease, type C1. Biomark Res. 2023 Jan 31; 11(1):14. PMID: 36721240.
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    15. Coleman J, Thompson T, Riley K, Allen K, Michalak C, Shields R, Berry-Kravis E, Hessl D. The comparison of expressed emotion of parents of individuals with fragile X syndrome to other intellectual disabilities. J Appl Res Intellect Disabil. 2023 Mar; 36(2):394-404. PMID: 36647196.
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    16. Erickson CA, Tessier CR, Gross C, Pedapati EV, Wink LK, Dominick KC, Shaffer RC, Rosselot H, Hong MP, Bantel AP, Berry-Kravis E, Horn PS, Adams R, Sweeney JA. Lymphocytic Extracellular Signal-Regulated Kinase Dysregulation in Autism Spectrum Disorder. J Am Acad Child Adolesc Psychiatry. 2023 05; 62(5):582-592.e2. PMID: 36638885.
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    17. Maltman N, DaWalt LS, Hong J, Baker MW, Berry-Kravis EM, Brilliant MH, Mailick M. FMR1 CGG Repeats and Stress Influence Self-Reported Cognitive Functioning in Mothers. Am J Intellect Dev Disabil. 2023 01 01; 128(1):1-20. PMID: 36548377.
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    18. Alusi G, Berry-Kravis E, Nelson D, Orefice LL, Booker SA. Emerging Therapeutic Strategies for Fragile X Syndrome: Q&A. ACS Chem Neurosci. 2022 Dec 21; 13(24):3544-3546. PMID: 36475635.
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    19. Agrawal N, Farhat NY, Sinaii N, Do AD, Xiao C, Berry-Kravis E, Bianconi S, Masvekar R, Bielekova B, Solomon B, Porter FD. Neurofilament light chain in cerebrospinal fluid as a novel biomarker in evaluating both clinical severity and therapeutic response in Niemann-Pick disease type C1. Genet Med. 2023 03; 25(3):100349. PMID: 36470574.
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    20. Shields RH, Kaat A, Sansone SM, Michalak C, Coleman J, Thompson T, McKenzie FJ, Dakopolos A, Riley K, Berry-Kravis E, Widaman KF, Gershon RC, Hessl D. Sensitivity of the NIH Toolbox to Detect Cognitive Change in Individuals With Intellectual and Developmental Disability. Neurology. 2023 02 21; 100(8):e778-e789. PMID: 36460468.
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    21. Berry-Kravis E, Hagerman R, Budimirovic D, Erickson C, Heussler H, Tartaglia N, Cohen J, Tassone F, Dobbins T, Merikle E, Sebree T, Tich N, Palumbo JM, O'Quinn S. A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX). J Neurodev Disord. 2022 11 25; 14(1):56. PMID: 36434514.
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    22. Del Hoyo Soriano L, Villarreal JC, Sterling A, Edgin J, Berry-Kravis E, Hamilton DR, Thurman AJ, Abbeduto L. The association between expressive language skills and adaptive behavior in individuals with Down syndrome. Sci Rep. 2022 11 21; 12(1):20014. PMID: 36411304.
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    23. Del Hoyo Soriano L, Sterling A, Edgin J, Hamilton DR, Berry-Kravis E, Dimachkie Nunnally A, Thurman AJ, Abbeduto L. Associations Among Sex, Cognitive Ability, and Autism Symptoms in Individuals with Down Syndrome. J Autism Dev Disord. 2022 Oct 31. PMID: 36315322.
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    24. Levy T, Siper PM, Lerman B, Halpern D, Zweifach J, Belani P, Thurm A, Kleefstra T, Berry-Kravis E, Buxbaum JD, Grice DE. DDX3X Syndrome: Summary of Findings and Recommendations for Evaluation and Care. Pediatr Neurol. 2022 Oct 27; 138:87-94. PMID: 36434914.
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    25. Hong J, Dembo RS, DaWalt LS, Brilliant M, Berry-Kravis EM, Mailick M. The effect of college degree attainment on neurodegenerative symptoms in genetically at-risk women. SSM Popul Health. 2022 Sep; 19:101262. PMID: 36238818.
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    26. Breen MS, Fan X, Levy T, Pollak RM, Collins B, Osman A, Tocheva AS, Sahin M, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Kolevzon A, Buxbaum JD. Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome. HGG Adv. 2023 01 12; 4(1):100145. PMID: 36276299.
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    27. Lozano R, Thompson T, Dixon-Weber J, Erickson CA, Berry-Kravis E, Williams S, Smith E, Frazier JA, Rosselot H, Farmer C, Hessl D. Observable Symptoms of Anxiety in Individuals with Fragile X Syndrome: Parent and Caregiver Perspectives. Genes (Basel). 2022 09 16; 13(9). PMID: 36140827.
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    28. Klusek J, Newman-Norlund R, Fairchild AJ, Newman-Norlund S, Sayers S, Stewart JC, Berry-Kravis E, Fridriksson J. Low normal FMR1 genotype in older adult women: Psychological well-being and motor function. Arch Gerontol Geriatr. 2022 Nov-Dec; 103:104789. PMID: 35981426.
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    29. Albizua I, Charen K, Shubeck L, Talboy A, Berry-Kravis E, Kaufmann WE, Stallworth JL, Drazba KT, Erickson CA, Sweeney JA, Tartaglia N, Warren SF, Hagerman R, Sherman SL, Warren ST, Jin P, Allen EG. Descriptive analysis of seizures and comorbidities associated with fragile X syndrome. Mol Genet Genomic Med. 2022 08; 10(8):e2001. PMID: 35852003.
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    30. Berry-Kravis E. Disease-Targeted Treatment Translation in Fragile X Syndrome as a Model for Neurodevelopmental Disorders. J Child Neurol. 2022 10; 37(10-11):797-812. PMID: 35791522.
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    31. Davidson BL, Gao G, Berry-Kravis E, Bradbury AM, B?nnemann C, Buxbaum JD, Corcoran GR, Gray SJ, Gray-Edwards H, Kleiman RJ, Shaywitz AJ, Wang D, Zoghbi HY, Flotte TR, Tauscher-Wisniewski S, Tifft CJ, Sahin M. Gene-based therapeutics for rare genetic neurodevelopmental psychiatric disorders. Mol Ther. 2022 07 06; 30(7):2416-2428. PMID: 35585789.
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    32. Hoffmann A, Thurman AJ, Sterling A, Kover ST, Finestack L, Berry-Kravis E, Edgin JO, Drayton A, Fombonne E, Abbeduto L. Analysis of a Repetitive Language Coding System: Comparisons between Fragile X Syndrome, Autism, and Down Syndrome. Brain Sci. 2022 Apr 29; 12(5). PMID: 35624962.
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    33. Maltman N, Klusek J, DaWalt L, Hong J, Sterling A, Berry-Kravis E, Mailick MR. Verbal inhibition declines among older women with high FMR1 premutation expansions: A prospective study. Brain Cogn. 2022 06; 159:105851. PMID: 35279590.
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    34. Berry-Kravis E. Fragile X Syndrome: Supportive Treatment, Unmet Needs, and Paths to Novel Interventions and Disease-Targeted Therapies. Am J Intellect Dev Disabil. 2022 03 01; 127(2):90-94. PMID: 35180774.
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    35. Bra?ic JR, Goodman JA, Nandi A, Russell DS, Jennings D, Barret O, Martin SD, Slifer K, Sedlak T, Mathur AK, Seibyl JP, Berry-Kravis EM, Wong DF, Budimirovic DB. Fragile X Mental Retardation Protein and Cerebral Expression of Metabotropic Glutamate Receptor Subtype 5 in Men with Fragile X Syndrome: A Pilot Study. Brain Sci. 2022 Feb 26; 12(3). PMID: 35326270.
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    36. Levy T, Foss-Feig JH, Betancur C, Siper PM, Trelles-Thorne MDP, Halpern D, Frank Y, Lozano R, Layton C, Britvan B, Bernstein JA, Buxbaum JD, Berry-Kravis E, Powell CM, Srivastava S, Sahin M, Soorya L, Thurm A, Kolevzon A. Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium. Hum Mol Genet. 2022 02 21; 31(4):625-637. PMID: 34559195.
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    37. Auger E, Berry-Kravis EM, Ethridge LE. Independent evaluation of the harvard automated processing pipeline for Electroencephalography 1.0 using multi-site EEG data from children with Fragile X Syndrome. J Neurosci Methods. 2022 04 01; 371:109501. PMID: 35182604.
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    38. Neul JL, Percy AK, Benke TA, Berry-Kravis EM, Glaze DG, Peters SU, Jones NE, Youakim JM. Design and outcome measures of LAVENDER, a phase 3 study of trofinetide for Rett syndrome. Contemp Clin Trials. 2022 03; 114:106704. PMID: 35149233.
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    39. Abbasi DA, Nguyen TTA, Hall DA, Robertson-Dick E, Berry-Kravis E, Cologna SM. Correction to: Characterization of the Cerebrospinal Fluid Proteome in Patients with Fragile X-Associated Tremor/Ataxia Syndrome. Cerebellum. 2022 Feb; 21(1):99-100. PMID: 34505966.
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    40. Berry-Kravis E, Filipink RA, Frye RE, Golla S, Morris SM, Andrews H, Choo TH, Kaufmann WE. Seizures in Fragile X Syndrome: Associations and Longitudinal Analysis of a Large Clinic-Based Cohort. Front Pediatr. 2021; 9:736255. PMID: 35036394.
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    41. Budimirovic DB, Protic DD, Delahunty CM, Andrews HF, Choo TH, Xu Q, Berry-Kravis E, Kaufmann WE. Sleep problems in fragile X syndrome: Cross-sectional analysis of a large clinic-based cohort. Am J Med Genet A. 2022 04; 188(4):1029-1039. PMID: 34889523.
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    42. Meng L, Kaufmann WE, Frye RE, Ong K, Kaminski JW, Velinov M, Berry-Kravis E. The association between mosaicism type and cognitive and behavioral functioning among males with fragile X syndrome. Am J Med Genet A. 2022 03; 188(3):858-866. PMID: 35148024.
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    43. Okur V, Chen Z, Vossaert L, Peacock S, Rosenfeld J, Zhao L, Du H, Calamaro E, Gerard A, Zhao S, Kelsay J, Lahr A, Mighton C, Porter HM, Siemon A, Silver J, Svihovec S, Fong CT, Grant CL, Lerner-Ellis J, Manickam K, Madan-Khetarpal S, McCandless SE, Morel CF, Schaefer GB, Berry-Kravis EM, Gates R, Gomez-Ospina N, Qiu G, Zhang TJ, Wu Z, Meng L, Liu P, Scott DA, Lupski JR, Eng CM, Wu N, Yuan B. De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities. NPJ Genom Med. 2021 Dec 07; 6(1):104. PMID: 34876591.
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    44. Pluvinage JV, Sun J, Claes C, Flynn RA, Haney MS, Iram T, Meng X, Lindemann R, Riley NM, Danhash E, Chadarevian JP, Tapp E, Gate D, Kondapavulur S, Cobos I, Chetty S, Pa?ca AM, Pa?ca SP, Berry-Kravis E, Bertozzi CR, Blurton-Jones M, Wyss-Coray T. The CD22-IGF2R interaction is a therapeutic target for microglial lysosome dysfunction in Niemann-Pick type C. Sci Transl Med. 2021 12; 13(622):eabg2919. PMID: 34851695.
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    45. Farhat N, Bailey L, Friedmann K, Bushnell DM, Rodriguez D, Berry-Kravis E, Porter FD. Consistently High Agreement Between Independent Raters of Niemann-Pick Type C1 Clinical Severity Scale in Phase 2/3 Trial. Pediatr Neurol. 2022 02; 127:32-38. PMID: 34952292.
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    46. Dominick KC, Andrews HF, Kaufmann WE, Berry-Kravis E, Erickson CA. Psychotropic Drug Treatment Patterns in Persons with Fragile X Syndrome. J Child Adolesc Psychopharmacol. 2021 12; 31(10):659-669. PMID: 34818076.
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    47. Srivastava S, Condy E, Carmody E, Filip-Dhima R, Kapur K, Bernstein JA, Berry-Kravis E, Powell CM, Soorya L, Thurm A, Buxbaum JD, Sahin M, Kolevzon AL. Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome. J Neurodev Disord. 2021 11 05; 13(1):53. PMID: 34740315.
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    48. Budimirovic DB, Dominick KC, Gabis LV, Adams M, Adera M, Huang L, Ventola P, Tartaglia NR, Berry-Kravis E. Gaboxadol in Fragile X Syndrome: A 12-Week Randomized, Double-Blind, Parallel-Group, Phase 2a Study. Front Pharmacol. 2021; 12:757825. PMID: 34690787.
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    49. Dimachkie Nunnally A, Nguyen V, Anglo C, Sterling A, Edgin J, Sherman S, Berry-Kravis E, Del Hoyo Soriano L, Abbeduto L, Thurman AJ. Symptoms of Autism Spectrum Disorder in Individuals with Down Syndrome. Brain Sci. 2021 Sep 26; 11(10). PMID: 34679343.
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    50. Krishnan ML, Berry-Kravis E, Capal JK, Carpenter R, Gringras P, Hipp JF, Miller MT, Mingorance A, Philpot BD, Pletcher MT, Rotenberg A, Tjeertes J, Wang PP, Willgoss T, de Wit MC, Jeste SS. Clinical trial strategies for rare neurodevelopmental disorders: challenges and opportunities. Nat Rev Drug Discov. 2021 09; 20(9):653-654. PMID: 34002058.
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    51. Hong J, DaWalt L, Baker MW, Berry-Kravis EM, Mailick MR. Is FMR1 CGG Repeat Number Polymorphism Associated With Phenotypic Variation in the General Population? Report From a Cohort of 5,499 Adults. Front Psychiatry. 2021; 12:727085. PMID: 34456771.
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    52. Maltman N, Guilfoyle J, Nayar K, Martin GE, Winston M, Lau JCY, Bush L, Patel S, Lee M, Sideris J, Hall DA, Zhou L, Sharp K, Berry-Kravis E, Losh M. The Phenotypic Profile Associated With the FMR1 Premutation in Women: An Investigation of Clinical-Behavioral, Social-Cognitive, and Executive Abilities. Front Psychiatry. 2021; 12:718485. PMID: 34421690.
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    53. Voss S, Zampieri C, Biskis A, Armijo N, Purcell N, Ouyang B, Liu Y, Berry-Kravis E, O'Keefe JA. Normative database of postural sway measures using inertial sensors in typically developing children and young adults. Gait Posture. 2021 10; 90:112-119. PMID: 34438292.
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    54. Mailick MR, Hong J, Movaghar A, DaWalt L, Berry-Kravis EM, Brilliant MH, Boero J, Todd PK, Hall D. Mild Neurological Signs in FMR1 Premutation Women in an Unselected Community-Based Cohort. Mov Disord. 2021 10; 36(10):2378-2386. PMID: 34117786.
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    55. Abbasi DA, Nguyen TTA, Hall DA, Robertson-Dick E, Berry-Kravis E, Cologna SM. Characterization of the Cerebrospinal Fluid Proteome in Patients with Fragile X-Associated Tremor/Ataxia Syndrome. Cerebellum. 2022 Feb; 21(1):86-98. PMID: 34046842.
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    56. Condy E, Kaat AJ, Becker L, Sullivan N, Soorya L, Berger N, Berry-Kravis E, Michalak C, Thurm A. A novel measure of matching categories for early development: Item creation and pilot feasibility study. Res Dev Disabil. 2021 Aug; 115:103993. PMID: 34049209.
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    57. Trevino CE, Rounds JC, Charen K, Shubeck L, Hipp HS, Spencer JB, Johnston HR, Cutler DJ, Zwick ME, Epstein MP, Murray A, Macpherson JN, Mila M, Rodriguez-Revenga L, Berry-Kravis E, Hall DA, Leehey MA, Liu Y, Welt C, Warren ST, Sherman SL, Jin P, Allen EG. Identifying susceptibility genes for primary ovarian insufficiency on the high-risk genetic background of a fragile X premutation. Fertil Steril. 2021 09; 116(3):843-854. PMID: 34016428.
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    58. Hong J, Kapoor A, DaWalt LS, Maltman N, Kim B, Berry-Kravis EM, Almeida D, Coe C, Mailick M. Stress and genetics influence hair cortisol in FMR1 premutation carrier mothers of children with fragile X syndrome. Psychoneuroendocrinology. 2021 07; 129:105266. PMID: 34020265.
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    59. Zhou A, Rand CM, Hockney SM, Niewijk G, Reineke P, Speare V, Berry-Kravis EM, Zhou L, Jennings LJ, Yu M, Ceccherini I, Bachetti T, Pennock M, Yap KL, Weese-Mayer DE. Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS). Genet Med. 2021 09; 23(9):1656-1663. PMID: 33958749.
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    60. Wheeler AC, Gwaltney A, Raspa M, Okoniewski KC, Berry-Kravis E, Botteron KN, Budimirovic D, Hazlett HC, Hessl D, Losh M, Martin GE, Rivera SM, Roberts JE, Bailey DB. Emergence of Developmental Delay in Infants and Toddlers With an FMR1 Mutation. Pediatrics. 2021 05; 147(5). PMID: 33911031.
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    61. Berry-Kravis EM, Harnett MD, Reines SA, Reese MA, Ethridge LE, Outterson AH, Michalak C, Furman J, Gurney ME. Inhibition of phosphodiesterase-4D in adults with fragile X syndrome: a randomized, placebo-controlled, phase 2 clinical trial. Nat Med. 2021 05; 27(5):862-870. PMID: 33927413.
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    62. Mariscal MG, Berry-Kravis E, Buxbaum JD, Ethridge LE, Filip-Dhima R, Foss-Feig JH, Kolevzon A, Modi ME, Mosconi MW, Nelson CA, Powell CM, Siper PM, Soorya L, Thaliath A, Thurm A, Zhang B, Sahin M, Levin AR. Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome. Mol Autism. 2021 04 28; 12(1):29. PMID: 33910615.
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    63. Raj N, McEachin ZT, Harousseau W, Zhou Y, Zhang F, Merritt-Garza ME, Taliaferro JM, Kalinowska M, Marro SG, Hales CM, Berry-Kravis E, Wolf-Ochoa MW, Martinez-Cerde?o V, Wernig M, Chen L, Klann E, Warren ST, Jin P, Wen Z, Bassell GJ. Cell-type-specific profiling of human cellular models of fragile X syndrome reveal PI3K-dependent defects in translation and neurogenesis. Cell Rep. 2021 04 13; 35(2):108991. PMID: 33852833.
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    64. Thurman AJ, Edgin JO, Sherman SL, Sterling A, McDuffie A, Berry-Kravis E, Hamilton D, Abbeduto L. Spoken language outcome measures for treatment studies in Down syndrome: feasibility, practice effects, test-retest reliability, and construct validity of variables generated from expressive language sampling. J Neurodev Disord. 2021 04 08; 13(1):13. PMID: 33827417.
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    65. Berry-Kravis E, Zhou L, Jackson J, Tassone F. Diagnostic profile of the AmplideX Fragile X Dx and Carrier Screen Kit for diagnosis and screening of fragile X syndrome and other FMR1-related disorders. Expert Rev Mol Diagn. 2021 03; 21(3):255-267. PMID: 33666525.
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    66. Berry-Kravis E. Niemann-Pick Disease, Type C: Diagnosis, Management and Disease-Targeted Therapies in Development. Semin Pediatr Neurol. 2021 04; 37:100879. PMID: 33892845.
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    67. Winston M, Nayar K, Landau E, Maltman N, Sideris J, Zhou L, Sharp K, Berry-Kravis E, Losh M. A Unique Visual Attention Profile Associated With the FMR1 Premutation. Front Genet. 2021; 12:591211. PMID: 33633778.
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    68. Bra?ic JR, Nandi A, Russell DS, Jennings D, Barret O, Mathur A, Slifer K, Sedlak T, Martin SD, Brinson Z, Vyas P, Seibyl JP, Berry-Kravis EM, Wong DF, Budimirovic DB. Reduced Expression of Cerebral Metabotropic Glutamate Receptor Subtype 5 in Men with Fragile X Syndrome. Brain Sci. 2020 Nov 24; 10(12). PMID: 33255214.
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    69. Sidhu R, Kell P, Dietzen DJ, Farhat NY, Do AND, Porter FD, Berry-Kravis E, Reunert J, Marquardt T, Giugliani R, Louren?o CM, Wang RY, Movsesyan N, Plummer E, Schaffer JE, Ory DS, Jiang X. Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1. Mol Genet Metab. 2020 12; 131(4):405-417. PMID: 33257258.
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    70. Ethridge L, Thaliath A, Kraff J, Nijhawan K, Berry-Kravis E. Development of Neural Response to Novel Sounds in Fragile X Syndrome: Potential Biomarkers. Am J Intellect Dev Disabil. 2020 11 01; 125(6):449-464. PMID: 33211818.
      Citations:    
    71. Farmer CA, Kaat AJ, Thurm A, Anselm I, Akshoomoff N, Bennett A, Berry L, Bruchey A, Barshop BA, Berry-Kravis E, Bianconi S, Cecil KM, Davis RJ, Ficicioglu C, Porter FD, Wainer A, Goin-Kochel RP, Leonczyk C, Guthrie W, Koeberl D, Love-Nichols J, Mamak E, Mercimek-Andrews S, Thomas RP, Spiridigliozzi GA, Sullivan N, Sutton VR, Udhnani MD, Waisbren SE, Miller JS. Person Ability Scores as an Alternative to Norm-Referenced Scores as Outcome Measures in Studies of Neurodevelopmental Disorders. Am J Intellect Dev Disabil. 2020 11 01; 125(6):475-480. PMID: 33211814.
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    72. O'Keefe JA, Guan J, Robertson E, Biskis A, Joyce J, Ouyang B, Liu Y, Carnes D, Purcell N, Berry-Kravis E, Hall DA. The Effects of Dual Task Cognitive Interference and Fast-Paced Walking on Gait, Turns, and Falls in Men and Women with FXTAS. Cerebellum. 2021 Apr; 20(2):212-221. PMID: 33118140.
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    73. Westmark CJ, Kniss C, Sampene E, Wang A, Milunovich A, Elver K, Hessl D, Talboy A, Picker J, Haas-Givler B, Esler A, Gropman AL, Uy R, Erickson C, Velinov M, Tartaglia N, Berry-Kravis EM. Soy-Based Infant Formula is Associated with an Increased Prevalence of Comorbidities in Fragile X Syndrome. Nutrients. 2020 Oct 14; 12(10). PMID: 33066511.
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    74. Budimirovic DB, Schlageter A, Filipovic-Sadic S, Protic DD, Bram E, Mahone EM, Nicholson K, Culp K, Javanmardi K, Kemppainen J, Hadd A, Sharp K, Adayev T, LaFauci G, Dobkin C, Zhou L, Brown WT, Berry-Kravis E, Kaufmann WE, Latham GJ. A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments. Brain Sci. 2020 Sep 30; 10(10). PMID: 33008014.
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    75. Luu S, Province H, Berry-Kravis E, Hagerman R, Hessl D, Vaidya D, Lozano R, Rosselot H, Erickson C, Kaufmann WE, Budimirovic DB. Response to Placebo in Fragile X Syndrome Clinical Trials: An Initial Analysis. Brain Sci. 2020 Sep 11; 10(9). PMID: 32932789.
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    76. Kidd SA, Berry-Kravis E, Choo TH, Chen C, Esler A, Hoffmann A, Andrews HF, Kaufmann WE. Improving the Diagnosis of Autism Spectrum Disorder in Fragile X Syndrome by Adapting the Social Communication Questionnaire and the Social Responsiveness Scale-2. J Autism Dev Disord. 2020 Sep; 50(9):3276-3295. PMID: 31342442.
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    77. O'Keefe JA, Bang D, Robertson EE, Biskis A, Ouyang B, Liu Y, Pal G, Berry-Kravis E, Hall DA. Prodromal Markers of Upper Limb Deficits in FMR1 Premutation Carriers and Quantitative Outcome Measures for Future Clinical Trials in Fragile X-associated Tremor/Ataxia Syndrome. Mov Disord Clin Pract. 2020 Oct; 7(7):810-819. PMID: 33043077.
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    78. Bowling HL, Kasper A, Patole C, Venkatasubramani JP, Leventer SP, Carmody E, Sharp K, Berry-Kravis E, Kirshenbaum K, Klann E, Bhattacharya A. Optimization of Protocols for Detection of De Novo Protein Synthesis in Whole Blood Samples via Azide-Alkyne Cycloaddition. J Proteome Res. 2020 09 04; 19(9):3856-3866. PMID: 32786687.
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    79. Patwari PP, Wolfe LF, Sharma GD, Berry-Kravis E. TECPR2 mutation-associated respiratory dysregulation: more than central apnea. J Clin Sleep Med. 2020 06 15; 16(6):977-982. PMID: 32209221.
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    80. Thurm A, Chlebowski C, Joseph L, Farmer C, Adedipe D, Weiss M, Wiggs E, Farhat N, Bianconi S, Berry-Kravis E, Porter FD. Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1. J Dev Behav Pediatr. 2020 Jun/Jul; 41(5):388-396. PMID: 32073546.
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    81. Hall DA, Nag S, Ouyang B, Bennett DA, Liu Y, Ali A, Zhou L, Berry-Kravis E. Fragile X Gray Zone Alleles Are Associated With Signs of Parkinsonism and Earlier Death. Mov Disord. 2020 08; 35(8):1448-1456. PMID: 32463542.
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    82. Berry-Kravis E, Horrigan JP, Tartaglia N, Hagerman R, Kolevzon A, Erickson CA, Hatti S, Snape M, Yaroshinsky A, Stoms G, Glass L, Jones NE. A Double-Blind, Randomized, Placebo-Controlled Clinical Study of Trofinetide in the Treatment of Fragile X Syndrome. Pediatr Neurol. 2020 09; 110:30-41. PMID: 32660869.
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    83. Voss S, Joyce J, Biskis A, Parulekar M, Armijo N, Zampieri C, Tracy R, Palmer AS, Fefferman M, Ouyang B, Liu Y, Berry-Kravis E, O'Keefe JA. Normative database of spatiotemporal gait parameters using inertial sensors in typically developing children and young adults. Gait Posture. 2020 07; 80:206-213. PMID: 32531757.
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    84. Ulloa ML, Froyshteter AB, Kret LN, Chang DP, Sarah GE, McCarthy RJ, Barnes SD, Berry-Kravis EM. Anesthetic management of pediatric patients with Niemann-Pick disease type C for intrathecal 2-hydroxypropyl-?-cyclodextrin injection. Paediatr Anaesth. 2020 07; 30(7):766-772. PMID: 32349180.
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    85. Gergoudis K, Weinberg A, Templin J, Farmer C, Durkin A, Weissman J, Siper P, Foss-Feig J, Del Pilar Trelles M, Bernstein JA, Buxbaum JD, Berry-Kravis E, Powell CM, Sahin M, Soorya L, Thurm A, Kolevzon A. Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome. Autism Res. 2020 08; 13(8):1383-1396. PMID: 32406614.
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    86. de Los Reyes E, Lehwald L, Augustine EF, Berry-Kravis E, Butler K, Cormier N, Demarest S, Lu S, Madden J, Olaya J, See S, Vierhile A, Wheless JW, Yang A, Cohen-Pfeffer J, Chu D, Leal-Pardinas F, Wang RY. Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics. Pediatr Neurol. 2020 09; 110:64-70. PMID: 32684372.
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    87. Reisinger DL, Shaffer RC, Tartaglia N, Berry-Kravis E, Erickson CA. Delineating Repetitive Behavior Profiles across the Lifespan in Fragile X Syndrome. Brain Sci. 2020 Apr 17; 10(4). PMID: 32316611.
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    88. Coffman MC, Shaffer RC, Schmitt LM, Dominick KC, Pedapati E, Wang A, Berry-Kravis E, Tartaglia N, Erickson CA. Examination of Correlates to Health-Related Quality of Life in Individuals with Fragile X Syndrome. Brain Sci. 2020 Apr 04; 10(4). PMID: 32260381.
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    89. Hoffmann A, Wang A, Berger N, Cordeiro L, Shaffer R, Tartaglia N, Erickson C, Berry-Kravis E. Language across the Lifespan in Fragile X Syndrome: Characteristics and Considerations for Assessment. Brain Sci. 2020 Apr 04; 10(4). PMID: 32260354.
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    90. Abbeduto L, Berry-Kravis E, Sterling A, Sherman S, Edgin JO, McDuffie A, Hoffmann A, Hamilton D, Nelson M, Aschkenasy J, Thurman AJ. Correction to: Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity. J Neurodev Disord. 2020 04 02; 12(1):11. PMID: 32241250.
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    91. Abbeduto L, Berry-Kravis E, Sterling A, Sherman S, Edgin JO, McDuffie A, Hoffmann A, Hamilton D, Nelson M, Aschkenasy J, Thurman AJ. Expressive language sampling as a source of outcome measures for treatment studies in fragile X syndrome: feasibility, practice effects, test-retest reliability, and construct validity. J Neurodev Disord. 2020 03 24; 12(1):10. PMID: 32204695.
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    92. Shields RH, Kaat AJ, McKenzie FJ, Drayton A, Sansone SM, Coleman J, Michalak C, Riley K, Berry-Kravis E, Gershon RC, Widaman KF, Hessl D. Validation of the NIH Toolbox Cognitive Battery in intellectual disability. Neurology. 2020 03 24; 94(12):e1229-e1240. PMID: 32094241.
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    93. Hall DA, Robertson EE, Leehey M, McAsey A, Ouyang B, Berry-Kravis E, O'Keefe JA. Open-label pilot clinical trial of citicoline for fragile X-associated tremor/ataxia syndrome (FXTAS). PLoS One. 2020; 15(2):e0225191. PMID: 32053612.
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    94. Bassell J, Srivastava S, Prohl AK, Scherrer B, Kapur K, Filip-Dhima R, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Buxbaum JD, Kolevzon A, Warfield SK, Sahin M. Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome. Pediatr Neurol. 2020 05; 106:24-31. PMID: 32107139.
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    95. Robertson EE, Hall DA, Pal G, Ouyang B, Liu Y, Joyce JM, Berry-Kravis E, O'Keefe JA. Tremorography in fragile X-associated tremor/ataxia syndrome, Parkinson's disease and essential tremor. Clin Park Relat Disord. 2020; 3:100040. PMID: 34316626.
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    96. Sidhu R, Kell P, Dietzen DJ, Farhat NY, Do AND, Porter FD, Berry-Kravis E, Vite CH, Reunert J, Marquardt T, Giugliani R, Louren?o CM, Bodamer O, Wang RY, Plummer E, Schaffer JE, Ory DS, Jiang X. Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease. Mol Genet Metab. 2020 04; 129(4):292-302. PMID: 32033912.
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    97. Klusek J, Hong J, Sterling A, Berry-Kravis E, Mailick MR. Inhibition deficits are modulated by age and CGG repeat length in carriers of the FMR1 premutation allele who are mothers of children with fragile X syndrome. Brain Cogn. 2020 03; 139:105511. PMID: 31887710.
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    98. Kolevzon A, Delaby E, Berry-Kravis E, Buxbaum JD, Betancur C. Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature. Mol Autism. 2019; 10:50. PMID: 31879555.
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    99. Berry-Kravis E, Kidd SA, Lachiewicz AM, Choo TH, Tartaglia N, Talapatra D, Aguirre-Kolb C, Andrews H, Riley K. Toilet Training in Fragile X Syndrome. J Dev Behav Pediatr. 2019 12; 40(9):751-761. PMID: 31593026.
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    100. Winston M, Nayar K, Hogan AL, Barstein J, La Valle C, Sharp K, Berry-Kravis E, Losh M. Physiological regulation and social-emotional processing in female carriers of the FMR1 premutation. Physiol Behav. 2020 02 01; 214:112746. PMID: 31765665.
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    101. Eckert EM, Dominick KC, Pedapati EV, Wink LK, Shaffer RC, Andrews H, Choo TH, Chen C, Kaufmann WE, Tartaglia N, Berry-Kravis EM, Erickson CA. Pharmacologic Interventions for Irritability, Aggression, Agitation and Self-Injurious Behavior in Fragile X Syndrome: An Initial Cross-Sectional Analysis. J Autism Dev Disord. 2019 Nov; 49(11):4595-4602. PMID: 31468273.
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    102. Hoffmann A, Krause SE, Wuu J, Leurgans S, Guter SJ, Block SS, Salt J, Cook E, Maino DM, Berry-Kravis E. Vocabulary comprehension in adults with fragile X syndrome (FXS). J Neurodev Disord. 2019 10 16; 11(1):25. PMID: 31619160.
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    103. Movaghar A, Page D, Brilliant M, Baker MW, Greenberg J, Hong J, DaWalt LS, Saha K, Kuusisto F, Stewart R, Berry-Kravis E, Mailick MR. Data-driven phenotype discovery of FMR1 premutation carriers in a population-based sample. Sci Adv. 2019 08; 5(8):eaaw7195. PMID: 31457090.
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    104. Yamasue H, Aran A, Berry-Kravis E. Emerging pharmacological therapies in fragile X syndrome and autism. Curr Opin Neurol. 2019 08; 32(4):635-640. PMID: 31045620.
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    105. Nayar K, McKinney W, Hogan AL, Martin GE, La Valle C, Sharp K, Berry-Kravis E, Norton ES, Gordon PC, Losh M. Language processing skills linked to FMR1 variation: A study of gaze-language coordination during rapid automatized naming among women with the FMR1 premutation. PLoS One. 2019; 14(7):e0219924. PMID: 31348790.
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    106. Zarate YA, Bosanko KA, Caffrey AR, Bernstein JA, Martin DM, Williams MS, Berry-Kravis EM, Mark PR, Manning MA, Bhambhani V, Vargas M, Seeley AH, Estrada-Veras JI, van Dooren MF, Schwab M, Vanderver A, Melis D, Alsadah A, Sadler L, Van Esch H, Callewaert B, Oostra A, Maclean J, Dentici ML, Orlando V, Lipson M, Sparagana SP, Maarup TJ, Alsters SI, Brautbar A, Kovitch E, Naidu S, Lees M, Smith DM, Turner L, Raggio V, Spangenberg L, Garcia-Mi?a?r S, Roeder ER, Littlejohn RO, Grange D, Pfotenhauer J, Jones MC, Balasubramanian M, Martinez-Monseny A, Blok LS, Gavrilova R, Fish JL. Mutation update for the SATB2 gene. Hum Mutat. 2019 08; 40(8):1013-1029. PMID: 31021519.
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    107. Sidhu R, Mondjinou Y, Qian M, Song H, Kumar AB, Hong X, Hsu FF, Dietzen DJ, Yanjanin NM, Porter FD, Berry-Kravis E, Vite CH, Gelb MH, Schaffer JE, Ory DS, Jiang X. N-acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease. J Lipid Res. 2019 08; 60(8):1410-1424. PMID: 31201291.
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    108. Gilbertson KE, Jackson HL, Dziuban EJ, Sherman SL, Berry-Kravis EM, Erickson CA, Valdez R. Preventive care services and health behaviors in children with fragile X syndrome. Disabil Health J. 2019 10; 12(4):564-573. PMID: 31118158.
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    109. Bowling H, Bhattacharya A, Zhang G, Alam D, Lebowitz JZ, Bohm-Levine N, Lin D, Singha P, Mamcarz M, Puckett R, Zhou L, Aryal S, Sharp K, Kirshenbaum K, Berry-Kravis E, Neubert TA, Klann E. Altered steady state and activity-dependent de novo protein expression in fragile X syndrome. Nat Commun. 2019 04 12; 10(1):1710. PMID: 30979884.
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    110. Glaze DG, Neul JL, Kaufmann WE, Berry-Kravis E, Condon S, Stoms G, Oosterholt S, Della Pasqua O, Glass L, Jones NE, Percy AK. Double-blind, randomized, placebo-controlled study of trofinetide in pediatric Rett syndrome. Neurology. 2019 04 16; 92(16):e1912-e1925. PMID: 30918097.
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    111. Zhang J, Wang G, He WW, Losh M, Berry-Kravis E, Funk WE. Expression and Characterization of Human Fragile X Mental Retardation Protein Isoforms and Interacting Proteins in Human Cells. Proteomics Insights. 2019; 10:1178641818825268. PMID: 30853789.
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    112. Weber JD, Smith E, Berry-Kravis E, Cadavid D, Hessl D, Erickson C. Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities. Brain Sci. 2019 Jan 23; 9(2). PMID: 30678024.
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    113. Sivan Y, Zhou A, Jennings LJ, Berry-Kravis EM, Yu M, Zhou L, Rand CM, Weese-Mayer DE. Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members. Am J Med Genet A. 2019 03; 179(3):503-506. PMID: 30672101.
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    114. Hall DA, Stebbins GT, Jacquemont S, Berry-Kravis E, Goetz CG, Hagerman R, Zhang L, Leehey MA. Clinimetric Properties of the Fragile X-associated Tremor Ataxia Syndrome Rating Scale. Mov Disord Clin Pract. 2019 Feb; 6(2):120-124. PMID: 30838310.
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    115. Hessl D, Harvey D, Sansone S, Crestodina C, Chin J, Joshi R, Hagerman RJ, Berry-Kravis E. Effects of mavoglurant on visual attention and pupil reactivity while viewing photographs of faces in Fragile X Syndrome. PLoS One. 2019; 14(1):e0209984. PMID: 30653533.
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    116. Sahin M, Jones SR, Sweeney JA, Berry-Kravis E, Connors BW, Ewen JB, Hartman AL, Levin AR, Potter WZ, Mamounas LA. Discovering translational biomarkers in neurodevelopmental disorders. Nat Rev Drug Discov. 2018 Dec 20. PMID: 30936503.
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    117. Erickson CA, Kaufmann WE, Budimirovic DB, Lachiewicz A, Haas-Givler B, Miller RM, Weber JD, Abbeduto L, Hessl D, Hagerman RJ, Berry-Kravis E. Best Practices in Fragile X Syndrome Treatment Development. Brain Sci. 2018 Dec 15; 8(12). PMID: 30558274.
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    118. Lee AW, Ventola P, Budimirovic D, Berry-Kravis E, Visootsak J. Clinical Development of Targeted Fragile X Syndrome Treatments: An Industry Perspective. Brain Sci. 2018 Dec 05; 8(12). PMID: 30563047.
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    119. Hagerman R, Jacquemont S, Berry-Kravis E, Des Portes V, Stanfield A, Koumaras B, Rosenkranz G, Murgia A, Wolf C, Apostol G, von Raison F. Mavoglurant in Fragile X Syndrome: Results of two open-label, extension trials in adults and adolescents. Sci Rep. 2018 11 19; 8(1):16970. PMID: 30451888.
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    120. Srivastava S, Scherrer B, Prohl AK, Filip-Dhima R, Kapur K, Kolevzon A, Buxbaum JD, Berry-Kravis E, Soorya L, Thurm A, Powell CM, Bernstein JA, Warfield SK, Sahin M. Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome. Pediatr Neurol. 2019 01; 90:37-43. PMID: 30396833.
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    121. O'Keefe JA, Robertson EE, Ouyang B, Carns D, McAsey A, Liu Y, Swanson M, Bernard B, Berry-Kravis E, Hall DA. Cognitive function impacts gait, functional mobility and falls in fragile X-associated tremor/ataxia syndrome. Gait Posture. 2018 10; 66:288-293. PMID: 30243213.
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    122. Jiang X, Sidhu R, Orsini JJ, Farhat NY, Porter FD, Berry-Kravis E, Schaffer JE, Ory DS. Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots. Mol Genet Metab. 2019 02; 126(2):183-187. PMID: 30172462.
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    123. Vittal P, Pandya S, Sharp K, Berry-Kravis E, Zhou L, Ouyang B, Jackson J, Hall DA. ASFMR1 splice variant: A predictor of fragile X-associated tremor/ataxia syndrome. Neurol Genet. 2018 Aug; 4(4):e246. PMID: 30065951.
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    124. Mailick MR, Movaghar A, Hong J, Greenberg JS, DaWalt LS, Zhou L, Jackson J, Rathouz PJ, Baker MW, Brilliant M, Page D, Berry-Kravis E. Health Profiles of Mosaic Versus Non-mosaic FMR1 Premutation Carrier Mothers of Children With Fragile X Syndrome. Front Genet. 2018; 9:173. PMID: 29868121.
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    125. Boutet I, Collin CA, MacLeod LS, Messier C, Holahan MR, Berry-Kravis E, Gandhi RM, Kogan CS. Utility of the Hebb-Williams Maze Paradigm for Translational Research in Fragile X Syndrome: A Direct Comparison of Mice and Humans. Front Mol Neurosci. 2018; 11:99. PMID: 29643767.
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    126. Berry-Kravis E, Chin J, Hoffmann A, Winston A, Stoner R, LaGorio L, Friedmann K, Hernandez M, Ory DS, Porter FD, O'Keefe JA. Long-Term Treatment of Niemann-Pick Type C1 Disease With Intrathecal 2-Hydroxypropyl-?-Cyclodextrin. Pediatr Neurol. 2018 03; 80:24-34. PMID: 29429782.
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    127. Hall DA, Berry-Kravis E. Fragile X syndrome and fragile X-associated tremor ataxia syndrome. Handb Clin Neurol. 2018; 147:377-391. PMID: 29325626.
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    128. Berry-Kravis EM, Lindemann L, J?nch AE, Apostol G, Bear MF, Carpenter RL, Crawley JN, Curie A, Des Portes V, Hossain F, Gasparini F, Gomez-Mancilla B, Hessl D, Loth E, Scharf SH, Wang PP, Von Raison F, Hagerman R, Spooren W, Jacquemont S. Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome. Nat Rev Drug Discov. 2018 04; 17(4):280-299. PMID: 29217836.
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    129. Nguyen TTM, Murakami Y, Sheridan E, Ehresmann S, Rousseau J, St-Denis A, Chai G, Ajeawung NF, Fairbrother L, Reimschisel T, Bateman A, Berry-Kravis E, Xia F, Tardif J, Parry DA, Logan CV, Diggle C, Bennett CP, Hattingh L, Rosenfeld JA, Perry MS, Parker MJ, Le Deist F, Zaki MS, Ignatius E, Isohanni P, L?nnqvist T, Carroll CJ, Johnson CA, Gleeson JG, Kinoshita T, Campeau PM. Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. Am J Hum Genet. 2017 Nov 02; 101(5):856-865. PMID: 29100095.
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    130. Hagerman RJ, Berry-Kravis E, Hazlett HC, Bailey DB, Moine H, Kooy RF, Tassone F, Gantois I, Sonenberg N, Mandel JL, Hagerman PJ. Fragile X syndrome. Nat Rev Dis Primers. 2017 Sep 29; 3:17065. PMID: 28960184.
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    131. Youssef EA, Berry-Kravis E, Czech C, Hagerman RJ, Hessl D, Wong CY, Rabbia M, Deptula D, John A, Kinch R, Drewitt P, Lindemann L, Marcinowski M, Langland R, Horn C, Fontoura P, Santarelli L, Quiroz JA. Effect of the mGluR5-NAM Basimglurant on Behavior in Adolescents and Adults with Fragile X Syndrome in a Randomized, Double-Blind, Placebo-Controlled Trial: FragXis Phase 2 Results. Neuropsychopharmacology. 2018 02; 43(3):503-512. PMID: 28816242.
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    132. Ory DS, Ottinger EA, Farhat NY, King KA, Jiang X, Weissfeld L, Berry-Kravis E, Davidson CD, Bianconi S, Keener LA, Rao R, Soldatos A, Sidhu R, Walters KA, Xu X, Thurm A, Solomon B, Pavan WJ, Machielse BN, Kao M, Silber SA, McKew JC, Brewer CC, Vite CH, Walkley SU, Austin CP, Porter FD. Intrathecal 2-hydroxypropyl-?-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial. Lancet. 2017 Oct 14; 390(10104):1758-1768. PMID: 28803710.
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    133. Budimirovic DB, Berry-Kravis E, Erickson CA, Hall SS, Hessl D, Reiss AL, King MK, Abbeduto L, Kaufmann WE. Updated report on tools to measure outcomes of clinical trials in fragile X syndrome. J Neurodev Disord. 2017; 9:14. PMID: 28616097.
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    134. Erickson CA, Davenport MH, Schaefer TL, Wink LK, Pedapati EV, Sweeney JA, Fitzpatrick SE, Brown WT, Budimirovic D, Hagerman RJ, Hessl D, Kaufmann WE, Berry-Kravis E. Fragile X targeted pharmacotherapy: lessons learned and future directions. J Neurodev Disord. 2017; 9:7. PMID: 28616096.
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    135. Berry-Kravis E, Hagerman R, Visootsak J, Budimirovic D, Kaufmann WE, Cherubini M, Zarevics P, Walton-Bowen K, Wang P, Bear MF, Carpenter RL. Arbaclofen in fragile X syndrome: results of phase 3 trials. J Neurodev Disord. 2017; 9:3. PMID: 28616094.
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    136. Bailey DB, Berry-Kravis E, Gane LW, Guarda S, Hagerman R, Powell CM, Tassone F, Wheeler A. Fragile X Newborn Screening: Lessons Learned From a Multisite Screening Study. Pediatrics. 2017 Jun; 139(Suppl 3):S216-S225. PMID: 28814542.
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    137. Kaufmann WE, Kidd SA, Andrews HF, Budimirovic DB, Esler A, Haas-Givler B, Stackhouse T, Riley C, Peacock G, Sherman SL, Brown WT, Berry-Kravis E. Autism Spectrum Disorder in Fragile X Syndrome: Cooccurring Conditions and Current Treatment. Pediatrics. 2017 Jun; 139(Suppl 3):S194-S206. PMID: 28814540.
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    138. Sherman SL, Kidd SA, Riley C, Berry-Kravis E, Andrews HF, Miller RM, Lincoln S, Swanson M, Kaufmann WE, Brown WT. FORWARD: A Registry and Longitudinal Clinical Database to Study Fragile X Syndrome. Pediatrics. 2017 Jun; 139(Suppl 3):S183-S193. PMID: 28814539.
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    139. Riley C, Mailick M, Berry-Kravis E, Bolen J. The Future of Fragile X Syndrome: CDC Stakeholder Meeting Summary. Pediatrics. 2017 06; 139(Suppl 3):S147-S152. PMID: 28814536.
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    140. Lee M, Martin GE, Berry-Kravis E, Losh M. Erratum to: A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome. J Neurodev Disord. 2017; 9:10. PMID: 28286580.
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    141. Lee M, Martin GE, Berry-Kravis E, Losh M. A developmental, longitudinal investigation of autism phenotypic profiles in fragile X syndrome. J Neurodev Disord. 2016; 8:47. PMID: 28050218.
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    142. Hadd AG, Filipovic-Sadic S, Zhou L, Williams A, Latham GJ, Berry-Kravis E, Hall DA. A methylation PCR method determines FMR1 activation ratios and differentiates premutation allele mosaicism in carrier siblings. Clin Epigenetics. 2016; 8:130. PMID: 27980694.
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    143. Hall DA, Hermanson M, Dunn E, Stebbins G, Merkitch D, Ouyang B, Berry-Kravis E, Jhaveri M. The Corpus Callosum Splenium Sign in Fragile X-Associated Tremor Ataxia Syndrome. Mov Disord Clin Pract. 2017 May-Jun; 4(3):383-388. PMID: 30363360.
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    144. Wheeler AC, Sideris J, Hagerman R, Berry-Kravis E, Tassone F, Bailey DB. Developmental profiles of infants with an FMR1 premutation. J Neurodev Disord. 2016; 8:40. PMID: 27822316.
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    145. Debrey SM, Leehey MA, Klepitskaya O, Filley CM, Shah RC, Kluger B, Berry-Kravis E, Spector E, Tassone F, Hall DA. Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series. Cerebellum. 2016 10; 15(5):623-31. PMID: 27372099.
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    146. Hall DA, Robertson E, Shelton AL, Losh MC, Mila M, Moreno EG, Gomez-Anson B, Mart?nez-Cerde?o V, Grigsby J, Lozano R, Hagerman R, Maria LS, Berry-Kravis E, O'Keefe JA. Update on the Clinical, Radiographic, and Neurobehavioral Manifestations in FXTAS and FMR1 Premutation Carriers. Cerebellum. 2016 10; 15(5):578-86. PMID: 27287737.
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    147. Visootsak J, Kidd SA, Anderson T, Bassell JL, Sherman SL, Berry-Kravis EM. Importance of a specialty clinic for individuals with fragile X syndrome. Am J Med Genet A. 2016 12; 170(12):3144-3149. PMID: 27649377.
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    148. Liu JA, Hagerman RJ, Miller RM, Craft LT, Finucane B, Tartaglia N, Berry-Kravis EM, Sherman SL, Kidd SA, Cohen J. Clinicians' experiences with the fragile X clinical and research consortium. Am J Med Genet A. 2016 12; 170(12):3138-3143. PMID: 27604509.
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    149. Hessl D, Sansone SM, Berry-Kravis E, Riley K, Widaman KF, Abbeduto L, Schneider A, Coleman J, Oaklander D, Rhodes KC, Gershon RC. The NIH Toolbox Cognitive Battery for intellectual disabilities: three preliminary studies and future directions. J Neurodev Disord. 2016; 8(1):35. PMID: 27602170.
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    150. O'Keefe JA, Robertson-Dick EE, Hall DA, Berry-Kravis E. Gait and Functional Mobility Deficits in Fragile X-Associated Tremor/Ataxia Syndrome. Cerebellum. 2016 08; 15(4):475-82. PMID: 26298472.
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    151. van Karnebeek CD, Bowden K, Berry-Kravis E. Treatment of Neurogenetic Developmental Conditions: From 2016 into the Future. Pediatr Neurol. 2016 12; 65:1-13. PMID: 27697313.
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    152. Jiang X, Sidhu R, Mydock-McGrane L, Hsu FF, Covey DF, Scherrer DE, Earley B, Gale SE, Farhat NY, Porter FD, Dietzen DJ, Orsini JJ, Berry-Kravis E, Zhang X, Reunert J, Marquardt T, Runz H, Giugliani R, Schaffer JE, Ory DS. Development of a bile acid-based newborn screen for Niemann-Pick disease type C. Sci Transl Med. 2016 05 04; 8(337):337ra63. PMID: 27147587.
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    153. Hall DA, Robertson-Dick EE, O'Keefe JA, Hadd AG, Zhou L, Berry-Kravis E. X-inactivation in the clinical phenotype of fragile X premutation carrier sisters. Neurol Genet. 2016 Feb; 2(1):e45. PMID: 27066582.
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    154. Berry-Kravis E, Des Portes V, Hagerman R, Jacquemont S, Charles P, Visootsak J, Brinkman M, Rerat K, Koumaras B, Zhu L, Barth GM, Jaecklin T, Apostol G, von Raison F. Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials. Sci Transl Med. 2016 Jan 13; 8(321):321ra5. PMID: 26764156.
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    155. Berry-Kravis E. Cognitive trajectories in rare neurogenetic diseases: minding the gaps and filling the potholes. Dev Med Child Neurol. 2016 Mar; 58(3):221-2. PMID: 26756676.
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    156. Charnay AJ, Antisdel-Lomaglio JE, Zelko FA, Rand CM, Le M, Gordon SC, Vitez SF, Tse JW, Brogadir CD, Nelson MN, Berry-Kravis EM, Weese-Mayer DE. Congenital Central Hypoventilation Syndrome: Neurocognition Already Reduced in Preschool-Aged Children. Chest. 2016 Mar; 149(3):809-15. PMID: 26378991.
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    157. Bailey DB, Berry-Kravis E, Wheeler A, Raspa M, Merrien F, Ricart J, Koumaras B, Rosenkranz G, Tomlinson M, von Raison F, Apostol G. Mavoglurant in adolescents with fragile X syndrome: analysis of Clinical Global Impression-Improvement source data from a double-blind therapeutic study followed by an open-label, long-term extension study. J Neurodev Disord. 2016; 8:1. PMID: 26855682.
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    158. O'Keefe JA, Robertson-Dick E, Dunn EJ, Li Y, Deng Y, Fiutko AN, Berry-Kravis E, Hall DA. Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS). Cerebellum. 2015 Dec; 14(6):650-62. PMID: 25763861.
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    159. Barclay SF, Rand CM, Gray PA, Gibson WT, Wilson RJ, Berry-Kravis EM, Ize-Ludlow D, Bech-Hansen NT, Weese-Mayer DE. Absence of mutations in HCRT, HCRTR1 and HCRTR2 in patients with ROHHAD. Respir Physiol Neurobiol. 2016 Jan 15; 221:59-63. PMID: 26555080.
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    160. Vittal P, Hall DA, Dames S, Mao R, Berry-Kravis E. BCAP31 Mutation Causing a Syndrome of Congenital Dystonia, Facial Dysorphism and Central Hypomyelination Discovered Using Exome Sequencing. Mov Disord Clin Pract. 2016 Mar-Apr; 3(2):197-199. PMID: 30713915.
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    161. Hall D, Todorova-Koteva K, Pandya S, Bernard B, Ouyang B, Walsh M, Pounardjian T, Deburghraeve C, Zhou L, Losh M, Leehey M, Berry-Kravis E. Neurological and endocrine phenotypes of fragile X carrier women. Clin Genet. 2016 Jan; 89(1):60-7. PMID: 26212380.
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    162. Barclay SF, Rand CM, Borch LA, Nguyen L, Gray PA, Gibson WT, Wilson RJ, Gordon PM, Aung Z, Berry-Kravis EM, Ize-Ludlow D, Weese-Mayer DE, Bech-Hansen NT. Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours. Orphanet J Rare Dis. 2015 Aug 25; 10:103. PMID: 26302956.
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    163. Bailey DB, Wheeler A, Berry-Kravis E, Hagerman R, Tassone F, Powell CM, Roche M, Gane LW, Sideris J. Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening. Pediatrics. 2015 Aug; 136(2):e433-40. PMID: 26169437.
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    164. Gross C, Hoffmann A, Bassell GJ, Berry-Kravis EM. Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back. Neurotherapeutics. 2015 Jul; 12(3):584-608. PMID: 25986746.
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    165. Filley CM, Brown MS, Onderko K, Ray M, Bennett RE, Berry-Kravis E, Grigsby J. White matter disease and cognitive impairment in FMR1 premutation carriers. Neurology. 2015 May 26; 84(21):2146-52. PMID: 25925982.
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    166. Hall DA, Birch RC, Anheim M, J?nch AE, Pintado E, O'Keefe JA, Trollor JN, Stebbins GT, Hagerman RJ, Fahn S, Berry-Kravis E, Leehey MA. Erratum: Emerging topics in FXTAS. J Neurodev Disord. 2015; 7(1):13. PMID: 25852777.
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    167. Ghosh A, Jana M, Modi K, Gonzalez FJ, Sims KB, Berry-Kravis E, Pahan K. Activation of peroxisome proliferator-activated receptor a induces lysosomal biogenesis in brain cells: implications for lysosomal storage disorders. J Biol Chem. 2015 Apr 17; 290(16):10309-24. PMID: 25750174.
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    168. Berry-Kravis E, Levin R, Shah H, Mathur S, Darnell JC, Ouyang B. Cholesterol levels in fragile X syndrome. Am J Med Genet A. 2015 Feb; 167A(2):379-84. PMID: 25424470.
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    169. Yrigollen CM, Sweha S, Durbin-Johnson B, Zhou L, Berry-Kravis E, Fernandez-Carvajal I, Faradz SM, Amiri K, Shaheen H, Polli R, Murillo-Bonilla L, Silva Arevalo Gde J, Cogram P, Murgia A, Tassone F. Distribution of AGG interruption patterns within nine world populations. Intractable Rare Dis Res. 2014 Nov; 3(4):153-61. PMID: 25606365.
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    170. Fraint A, Vittal P, Szewka A, Bernard B, Berry-Kravis E, Hall DA. New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype. Front Genet. 2014; 5:365. PMID: 25368631.
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    171. Kidd SA, Lachiewicz A, Barbouth D, Blitz RK, Delahunty C, McBrien D, Visootsak J, Berry-Kravis E. Fragile X syndrome: a review of associated medical problems. Pediatrics. 2014 Nov; 134(5):995-1005. PMID: 25287458.
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    172. Yu TW, Berry-Kravis E. Autism and fragile X syndrome. Semin Neurol. 2014 Jul; 34(3):258-65. PMID: 25192504.
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    173. Yrigollen CM, Martorell L, Durbin-Johnson B, Naudo M, Genoves J, Murgia A, Polli R, Zhou L, Barbouth D, Rupchock A, Finucane B, Latham GJ, Hadd A, Berry-Kravis E, Tassone F. AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission. J Neurodev Disord. 2014; 6(1):24. PMID: 25110527.
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    174. Wheeler AC, Bailey DB, Berry-Kravis E, Greenberg J, Losh M, Mailick M, Mil? M, Olichney JM, Rodriguez-Revenga L, Sherman S, Smith L, Summers S, Yang JC, Hagerman R. Associated features in females with an FMR1 premutation. J Neurodev Disord. 2014; 6(1):30. PMID: 25097672.
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    175. Hall DA, Birch RC, Anheim M, J?nch AE, Pintado E, O'Keefe J, Trollor JN, Stebbins GT, Hagerman RJ, Fahn S, Berry-Kravis E, Leehey MA. Emerging topics in FXTAS. J Neurodev Disord. 2014; 6(1):31. PMID: 25642984.
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    176. Kerr C, Breheny K, Lloyd A, Brazier J, Bailey DB, Berry-Kravis E, Cohen J, Petrillo J. Developing a utility index for the Aberrant Behavior Checklist (ABC-C) for fragile X syndrome. Qual Life Res. 2015 Feb; 24(2):305-14. PMID: 25063082.
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    177. Sansone SM, Schneider A, Bickel E, Berry-Kravis E, Prescott C, Hessl D. Improving IQ measurement in intellectual disabilities using true deviation from population norms. J Neurodev Disord. 2014; 6(1):16. PMID: 26491488.
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    178. Hall DA, Bennett DA, Filley CM, Shah RC, Kluger B, Ouyang B, Berry-Kravis E. Fragile X gene expansions are not associated with dementia. Neurobiol Aging. 2014 Nov; 35(11):2637-2638. PMID: 24958193.
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    179. Visootsak J, Hipp H, Clark H, Berry-Kravis E, Anderson T, Laney D. Climbing the branches of a family tree: diagnosis of fragile X syndrome. J Pediatr. 2014 Jun; 164(6):1292-5. PMID: 24612903.
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    180. Russo-Ponsaran NM, Yesensky J, Hessl D, Berry-Kravis E. Feasibility, reproducibility, and clinical validity of the pediatric anxiety rating scale-revised for fragile X syndrome. Am J Intellect Dev Disabil. 2014 Jan; 119(1):1-16. PMID: 24450318.
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    181. Berry-Kravis E. Mechanism-based treatments in neurodevelopmental disorders: fragile X syndrome. Pediatr Neurol. 2014 Apr; 50(4):297-302. PMID: 24518745.
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    182. Barrett KT, Rodikova E, Weese-Mayer DE, Rand CM, Marazita ML, Cooper ME, Berry-Kravis EM, Bech-Hansen NT, Wilson RJ. Analysis of PAC1 receptor gene variants in Caucasian and African American infants dying of sudden infant death syndrome. Acta Paediatr. 2013 Dec; 102(12):e546-52. PMID: 23981011.
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    183. Gomez-Mancilla B, Berry-Kravis E, Hagerman R, von Raison F, Apostol G, Ufer M, Gasparini F, Jacquemont S. Development of mavoglurant and its potential for the treatment of fragile X syndrome. Expert Opin Investig Drugs. 2014 Jan; 23(1):125-34. PMID: 24251408.
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    184. Jacquemont S, Berry-Kravis E, Hagerman R, von Raison F, Gasparini F, Apostol G, Ufer M, Des Portes V, Gomez-Mancilla B. The challenges of clinical trials in fragile X syndrome. Psychopharmacology (Berl). 2014 Mar; 231(6):1237-50. PMID: 24173622.
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    185. O'Keefe JA, Espinoza Or?as AA, Khan H, Hall DA, Berry-Kravis E, Wimmer MA. Implementation of a markerless motion analysis method to quantify hyperkinesis in males with fragile X syndrome. Gait Posture. 2014 Feb; 39(2):827-30. PMID: 24252602.
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    186. Berry-Kravis E, Hessl D, Abbeduto L, Reiss AL, Beckel-Mitchener A, Urv TK. Outcome measures for clinical trials in fragile X syndrome. J Dev Behav Pediatr. 2013 Sep; 34(7):508-22. PMID: 24042082.
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    187. Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Keens TG, Loghmanee DA, Trang H. [ATS clinical policy statement: congenital central hypoventilation syndrome. Genetic basis, diagnosis and management]. Rev Mal Respir. 2013 Oct; 30(8):706-33. PMID: 24182656.
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    188. Westmark CJ, Berry-Kravis EM, Ikonomidou C, Yin JC, Puglielli L. Developing BACE-1 inhibitors for FXS. Front Cell Neurosci. 2013; 7:77. PMID: 23754978.
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    189. Kalman L, Tarleton J, Hitch M, Hegde M, Hjelm N, Berry-Kravis E, Zhou L, Hilbert JE, Luebbe EA, Moxley RT, Toji L. Development of a genomic DNA reference material panel for myotonic dystrophy type 1 (DM1) genetic testing. J Mol Diagn. 2013 Jul; 15(4):518-25. PMID: 23680132.
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    190. Berry-Kravis E, Doll E, Sterling A, Kover ST, Schroeder SM, Mathur S, Abbeduto L. Development of an expressive language sampling procedure in fragile X syndrome: a pilot study. J Dev Behav Pediatr. 2013 May; 34(4):245-51. PMID: 23669871.
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    191. Mirzaa GM, Paciorkowski AR, Marsh ED, Berry-Kravis EM, Medne L, Alkhateeb A, Grix A, Wirrell EC, Powell BR, Nickels KC, Burton B, Paras A, Kim K, Chung W, Dobyns WB, Das S. CDKL5 and ARX mutations in males with early-onset epilepsy. Pediatr Neurol. 2013 May; 48(5):367-77. PMID: 23583054.
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    192. Goldman JG, Eichenseer SR, Berry-Kravis E, Zimnowodzki S, Gregory A, Hogarth P, Hayflick SJ. Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation. Mov Disord. 2013 Sep; 28(10):1462-3. PMID: 23494994.
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    193. Nolin SL, Sah S, Glicksman A, Sherman SL, Allen E, Berry-Kravis E, Tassone F, Yrigollen C, Cronister A, Jodah M, Ersalesi N, Dobkin C, Brown WT, Shroff R, Latham GJ, Hadd AG. Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles. Am J Med Genet A. 2013 Apr; 161A(4):771-8. PMID: 23444167.
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    194. Paciorkowski AR, Traylor RN, Rosenfeld JA, Hoover JM, Harris CJ, Winter S, Lacassie Y, Bialer M, Lamb AN, Schultz RA, Berry-Kravis E, Porter BE, Falk M, Venkat A, Vanzo RJ, Cohen JS, Fatemi A, Dobyns WB, Shaffer LG, Ballif BC, Marsh ED. MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways. Neurogenetics. 2013 May; 14(2):99-111. PMID: 23389741.
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    195. Hogarth P, Gregory A, Kruer MC, Sanford L, Wagoner W, Natowicz MR, Egel RT, Subramony SH, Goldman JG, Berry-Kravis E, Foulds NC, Hammans SR, Desguerre I, Rodriguez D, Wilson C, Diedrich A, Green S, Tran H, Reese L, Woltjer RL, Hayflick SJ. New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPAN. Neurology. 2013 Jan 15; 80(3):268-75. PMID: 23269600.
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    196. Tassone F, Iong KP, Tong TH, Lo J, Gane LW, Berry-Kravis E, Nguyen D, Mu LY, Laffin J, Bailey DB, Hagerman RJ. FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States. Genome Med. 2012; 4(12):100. PMID: 23259642.
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    197. Abrams L, Cronister A, Brown WT, Tassone F, Sherman SL, Finucane B, McConkie-Rosell A, Hagerman R, Kaufmann WE, Picker J, Coffey S, Skinner D, Johnson V, Miller R, Berry-Kravis E. Newborn, carrier, and early childhood screening recommendations for fragile X. Pediatrics. 2012 Dec; 130(6):1126-35. PMID: 23129072.
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    198. Jones KL, Pivnick EK, Hines-Dowell S, Weese-Mayer DE, Berry-Kravis EM, Santiago T, Nnorom C, Pourcyrous M. A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease. Pediatrics. 2012 Nov; 130(5):e1382-4. PMID: 23045564.
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    199. Berry-Kravis EM, Hessl D, Rathmell B, Zarevics P, Cherubini M, Walton-Bowen K, Mu Y, Nguyen DV, Gonzalez-Heydrich J, Wang PP, Carpenter RL, Bear MF, Hagerman RJ. Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: a randomized, controlled, phase 2 trial. Sci Transl Med. 2012 Sep 19; 4(152):152ra127. PMID: 22993294.
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    200. Berry-Kravis E, Sumis A, Hervey C, Mathur S. Clinic-based retrospective analysis of psychopharmacology for behavior in fragile x syndrome. Int J Pediatr. 2012; 2012:843016. PMID: 22899942.
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    201. Nirupam N, Sharma R, Chhapola V, Kanwal SK, Berry-Kravis EM, Kumar V. Congenital central hypoventilation syndrome with PHOX2B gene mutation: are we missing the diagnosis? Indian J Pediatr. 2013 Aug; 80(8):688-90. PMID: 22829249.
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    202. Rand CM, Yu M, Jennings LJ, Panesar K, Berry-Kravis EM, Zhou L, Weese-Mayer DE. Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS). Am J Med Genet A. 2012 Sep; 158A(9):2297-301. PMID: 22821709.
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    203. Fischer B, Dimopoulou A, Egerer J, Gardeitchik T, Kidd A, Jost D, Kayserili H, Alanay Y, Tantcheva-Poor I, Mangold E, Daumer-Haas C, Phadke S, Peirano RI, Heusel J, Desphande C, Gupta N, Nanda A, Felix E, Berry-Kravis E, Kabra M, Wevers RA, van Maldergem L, Mundlos S, Morava E, Kornak U. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Hum Genet. 2012 Nov; 131(11):1761-73. PMID: 22773132.
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    204. Sansone SM, Widaman KF, Hall SS, Reiss AL, Lightbody A, Kaufmann WE, Berry-Kravis E, Lachiewicz A, Brown EC, Hessl D. Psychometric study of the Aberrant Behavior Checklist in Fragile X Syndrome and implications for targeted treatment. J Autism Dev Disord. 2012 Jul; 42(7):1377-92. PMID: 21972117.
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    205. Knox A, Schneider A, Abucayan F, Hervey C, Tran C, Hessl D, Berry-Kravis E. Feasibility, reliability, and clinical validity of the Test of Attentional Performance for Children (KiTAP) in Fragile X syndrome (FXS). J Neurodev Disord. 2012 Feb 08; 4(1):2. PMID: 22958782.
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    206. Willemsen MH, Vulto-van Silfhout AT, Nillesen WM, Wissink-Lindhout WM, van Bokhoven H, Philip N, Berry-Kravis EM, Kini U, van Ravenswaaij-Arts CM, Delle Chiaie B, Innes AM, Houge G, Kosonen T, Cremer K, Fannemel M, Stray-Pedersen A, Reardon W, Ignatius J, Lachlan K, Mircher C, Helderman van den Enden PT, Mastebroek M, Cohn-Hokke PE, Yntema HG, Drunat S, Kleefstra T. Update on Kleefstra Syndrome. Mol Syndromol. 2012 Apr; 2(3-5):202-212. PMID: 22670141.
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    207. Bailey DB, Raspa M, Bishop E, Olmsted M, Mallya UG, Berry-Kravis E. Medication utilization for targeted symptoms in children and adults with fragile X syndrome: US survey. J Dev Behav Pediatr. 2012 Jan; 33(1):62-9. PMID: 22064563.
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    208. Hagerman R, Lauterborn J, Au J, Berry-Kravis E. Fragile X syndrome and targeted treatment trials. Results Probl Cell Differ. 2012; 54:297-335. PMID: 22009360.
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    209. Farzin F, Scaggs F, Hervey C, Berry-Kravis E, Hessl D. Reliability of eye tracking and pupillometry measures in individuals with fragile X syndrome. J Autism Dev Disord. 2011 Nov; 41(11):1515-22. PMID: 21267642.
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    210. Westmark CJ, Westmark PR, O'Riordan KJ, Ray BC, Hervey CM, Salamat MS, Abozeid SH, Stein KM, Stodola LA, Tranfaglia M, Burger C, Berry-Kravis EM, Malter JS. Reversal of fragile X phenotypes by manipulation of A?PP/A? levels in Fmr1KO mice. PLoS One. 2011; 6(10):e26549. PMID: 22046307.
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    211. Rand CM, Patwari PP, Rodikova EA, Zhou L, Berry-Kravis EM, Wilson RJ, Bech-Hansen T, Weese-Mayer DE. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes. Pediatr Res. 2011 Oct; 70(4):375-8. PMID: 21691246.
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    212. Jennings LJ, Yu M, Rand CM, Kravis N, Berry-Kravis EM, Patwari PP, Weese-Mayer DE. Variable human phenotype associated with novel deletions of the PHOX2B gene. Pediatr Pulmonol. 2012 Feb; 47(2):153-61. PMID: 21830319.
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    213. Patwari PP, Rand CM, Berry-Kravis EM, Ize-Ludlow D, Weese-Mayer DE. Monozygotic twins discordant for ROHHAD phenotype. Pediatrics. 2011 Sep; 128(3):e711-5. PMID: 21807698.
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    214. Gross C, Berry-Kravis EM, Bassell GJ. Therapeutic strategies in fragile X syndrome: dysregulated mGluR signaling and beyond. Neuropsychopharmacology. 2012 Jan; 37(1):178-95. PMID: 21796106.
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    215. Westmark CJ, Hervey CM, Berry-Kravis EM, Malter JS. Effect of Anticoagulants on Amyloid ?-Protein Precursor and Amyloid Beta Levels in Plasma. J Alzheimers Dis Parkinsonism. 2011 Jul 24; 1:101. PMID: 23459194.
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    216. Hunsaker MR, Greco CM, Spath MA, Smits AP, Navarro CS, Tassone F, Kros JM, Severijnen LA, Berry-Kravis EM, Berman RF, Hagerman PJ, Willemsen R, Hagerman RJ, Hukema RK. Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice. Acta Neuropathol. 2011 Oct; 122(4):467-79. PMID: 21785977.
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    217. Berry-Kravis E, Hall DA. Executive dysfunction in young FMR1 premutation carriers: forme fruste of FXTAS or new phenotype? Neurology. 2011 Aug 16; 77(7):612-3. PMID: 21775737.
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    218. Hall DA, Berry-Kravis E, Zhang W, Tassone F, Spector E, Zerbe G, Hagerman PJ, Ouyang B, Leehey MA. FMR1 gray-zone alleles: association with Parkinson's disease in women? Mov Disord. 2011 Aug 15; 26(10):1900-6. PMID: 21567456.
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    219. Napoli E, Ross-Inta C, Wong S, Omanska-Klusek A, Barrow C, Iwahashi C, Garcia-Arocena D, Sakaguchi D, Berry-Kravis E, Hagerman R, Hagerman PJ, Giulivi C. Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome. Hum Mol Genet. 2011 Aug 01; 20(15):3079-92. PMID: 21558427.
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    220. Heilman KJ, Harden ER, Zageris DM, Berry-Kravis E, Porges SW. Autonomic regulation in fragile X syndrome. Dev Psychobiol. 2011 Dec; 53(8):785-95. PMID: 21547900.
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    221. Goldman JG, Marr D, Zhou L, Ouyang B, Leurgans SE, Berry-Kravis E, Goetz CG. Racial differences may influence the role of cholecystokinin polymorphisms in Parkinson's disease hallucinations. Mov Disord. 2011 Aug 01; 26(9):1781-2. PMID: 21506165.
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    222. Berry-Kravis E, Knox A, Hervey C. Targeted treatments for fragile X syndrome. J Neurodev Disord. 2011 Sep; 3(3):193-210. PMID: 21484200.
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    223. Tao H, Manak JR, Sowers L, Mei X, Kiyonari H, Abe T, Dahdaleh NS, Yang T, Wu S, Chen S, Fox MH, Gurnett C, Montine T, Bird T, Shaffer LG, Rosenfeld JA, McConnell J, Madan-Khetarpal S, Berry-Kravis E, Griesbach H, Saneto RP, Scott MP, Antic D, Reed J, Boland R, Ehaideb SN, El-Shanti H, Mahajan VB, Ferguson PJ, Axelrod JD, Lehesjoki AE, Fritzsch B, Slusarski DC, Wemmie J, Ueno N, Bassuk AG. Mutations in prickle orthologs cause seizures in flies, mice, and humans. Am J Hum Genet. 2011 Feb 11; 88(2):138-49. PMID: 21276947.
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    224. Jacquemont S, Curie A, des Portes V, Torrioli MG, Berry-Kravis E, Hagerman RJ, Ramos FJ, Cornish K, He Y, Paulding C, Neri G, Chen F, Hadjikhani N, Martinet D, Meyer J, Beckmann JS, Delange K, Brun A, Bussy G, Gasparini F, Hilse T, Floesser A, Branson J, Bilbe G, Johns D, Gomez-Mancilla B. Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. Sci Transl Med. 2011 Jan 05; 3(64):64ra1. PMID: 21209411.
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    225. Jennings LJ, Yu M, Zhou L, Rand CM, Berry-Kravis EM, Weese-Mayer DE. Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers. Diagn Mol Pathol. 2010 Dec; 19(4):224-31. PMID: 21051998.
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    226. Berry-Kravis E, Raspa M, Loggin-Hester L, Bishop E, Holiday D, Bailey DB. Seizures in fragile X syndrome: characteristics and comorbid diagnoses. Am J Intellect Dev Disabil. 2010 Nov; 115(6):461-72. PMID: 20945999.
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    227. Paribello C, Tao L, Folino A, Berry-Kravis E, Tranfaglia M, Ethell IM, Ethell DW. Open-label add-on treatment trial of minocycline in fragile X syndrome. BMC Neurol. 2010 Oct 11; 10:91. PMID: 20937127.
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    228. Ross-Inta C, Omanska-Klusek A, Wong S, Barrow C, Garcia-Arocena D, Iwahashi C, Berry-Kravis E, Hagerman RJ, Hagerman PJ, Giulivi C. Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome. Biochem J. 2010 Aug 01; 429(3):545-52. PMID: 20513237.
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    229. Wang LW, Berry-Kravis E, Hagerman RJ. Fragile X: leading the way for targeted treatments in autism. Neurotherapeutics. 2010 Jul; 7(3):264-74. PMID: 20643379.
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    230. Utari A, Adams E, Berry-Kravis E, Chavez A, Scaggs F, Ngotran L, Boyd A, Hessl D, Gane LW, Tassone F, Tartaglia N, Leehey MA, Hagerman RJ. Aging in fragile X syndrome. J Neurodev Disord. 2010 Jun; 2(2):70-76. PMID: 20585378.
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    231. Chonchaiya W, Nguyen DV, Au J, Campos L, Berry-Kravis EM, Lohse K, Mu Y, Utari A, Hervey C, Wang L, Sorensen P, Cook K, Gane L, Tassone F, Hagerman RJ. Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome. Clin Genet. 2010 Jul; 78(1):38-46. PMID: 20497189.
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    232. Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Keens TG, Loghmanee DA, Trang H. An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. Am J Respir Crit Care Med. 2010 Mar 15; 181(6):626-44. PMID: 20208042.
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    233. Collins SC, Coffee B, Benke PJ, Berry-Kravis E, Gilbert F, Oostra B, Halley D, Zwick ME, Cutler DJ, Warren ST. Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype. PLoS One. 2010 Mar 05; 5(3):e9476. PMID: 20221430.
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    234. Zelko FA, Nelson MN, Leurgans SE, Berry-Kravis EM, Weese-Mayer DE. Congenital central hypoventilation syndrome: neurocognitive functioning in school age children. Pediatr Pulmonol. 2010 Jan; 45(1):92-8. PMID: 19960523.
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    235. Garcia-Arocena D, Yang JE, Brouwer JR, Tassone F, Iwahashi C, Berry-Kravis EM, Goetz CG, Sumis AM, Zhou L, Nguyen DV, Campos L, Howell E, Ludwig A, Greco C, Willemsen R, Hagerman RJ, Hagerman PJ. Fibroblast phenotype in male carriers of FMR1 premutation alleles. Hum Mol Genet. 2010 Jan 15; 19(2):299-312. PMID: 19864489.
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    236. MacLeod LS, Kogan CS, Collin CA, Berry-Kravis E, Messier C, Gandhi R. A comparative study of the performance of individuals with fragile X syndrome and Fmr1 knockout mice on Hebb-Williams mazes. Genes Brain Behav. 2010 Feb; 9(1):53-64. PMID: 19796132.
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    237. Hessl D, Berry-Kravis E, Cordeiro L, Yuhas J, Ornitz EM, Campbell A, Chruscinski E, Hervey C, Long JM, Hagerman RJ. Prepulse inhibition in fragile X syndrome: feasibility, reliability, and implications for treatment. Am J Med Genet B Neuropsychiatr Genet. 2009 Jun 05; 150B(4):545-53. PMID: 18785205.
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    238. Weese-Mayer DE, Rand CM, Berry-Kravis EM, Jennings LJ, Loghmanee DA, Patwari PP, Ceccherini I. Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine. Pediatr Pulmonol. 2009 Jun; 44(6):521-35. PMID: 19422034.
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    239. Bourgeois JA, Coffey SM, Rivera SM, Hessl D, Gane LW, Tassone F, Greco C, Finucane B, Nelson L, Berry-Kravis E, Grigsby J, Hagerman PJ, Hagerman RJ. A review of fragile X premutation disorders: expanding the psychiatric perspective. J Clin Psychiatry. 2009 Jun; 70(6):852-62. PMID: 19422761.
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    240. Berry-Kravis E, Hessl D, Coffey S, Hervey C, Schneider A, Yuhas J, Hutchison J, Snape M, Tranfaglia M, Nguyen DV, Hagerman R. A pilot open label, single dose trial of fenobam in adults with fragile X syndrome. J Med Genet. 2009 Apr; 46(4):266-71. PMID: 19126569.
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    241. Hagerman RJ, Berry-Kravis E, Kaufmann WE, Ono MY, Tartaglia N, Lachiewicz A, Kronk R, Delahunty C, Hessl D, Visootsak J, Picker J, Gane L, Tranfaglia M. Advances in the treatment of fragile X syndrome. Pediatrics. 2009 Jan; 123(1):378-90. PMID: 19117905.
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    242. Ramaswamy S, McBride JL, Han I, Berry-Kravis EM, Zhou L, Herzog CD, Gasmi M, Bartus RT, Kordower JH. Intrastriatal CERE-120 (AAV-Neurturin) protects striatal and cortical neurons and delays motor deficits in a transgenic mouse model of Huntington's disease. Neurobiol Dis. 2009 Apr; 34(1):40-50. PMID: 19150499.
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    243. Cummings KJ, Klotz C, Liu WQ, Weese-Mayer DE, Marazita ML, Cooper ME, Berry-Kravis EM, Tobias R, Goldie C, Bech-Hansen NT, Wilson RJ. Sudden infant death syndrome (SIDS) in African Americans: polymorphisms in the gene encoding the stress peptide pituitary adenylate cyclase-activating polypeptide (PACAP). Acta Paediatr. 2009 Mar; 98(3):482-9. PMID: 19120039.
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    244. Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Rand CM. Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation. Respir Physiol Neurobiol. 2008 Dec 10; 164(1-2):38-48. PMID: 18579454.
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    245. Kogan CS, Boutet I, Cornish K, Graham GE, Berry-Kravis E, Drouin A, Milgram NW. A comparative neuropsychological test battery differentiates cognitive signatures of Fragile X and Down syndrome. J Intellect Disabil Res. 2009 Feb; 53(2):125-42. PMID: 19054268.
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    246. Weng N, Weiler IJ, Sumis A, Berry-Kravis E, Greenough WT. Early-phase ERK activation as a biomarker for metabolic status in fragile X syndrome. Am J Med Genet B Neuropsychiatr Genet. 2008 Oct 05; 147B(7):1253-7. PMID: 18452182.
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    247. Repetto GM, Corrales RJ, Abara SG, Zhou L, Berry-Kravis EM, Rand CM, Weese-Mayer DE. Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene. Acta Paediatr. 2009 Jan; 98(1):192-5. PMID: 18798833.
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    248. Rand CM, Berry-Kravis EM, Fan W, Weese-Mayer DE. HTR2A variation and sudden infant death syndrome: a case-control analysis. Acta Paediatr. 2009 Jan; 98(1):58-61. PMID: 18771483.
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    249. Berry-Kravis E, Sumis A, Hervey C, Nelson M, Porges SW, Weng N, Weiler IJ, Greenough WT. Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome. J Dev Behav Pediatr. 2008 Aug; 29(4):293-302. PMID: 18698192.
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    250. Morley ME, Rand CM, Berry-Kravis EM, Zhou L, Fan W, Weese-Mayer DE. Genetic variation in the HTR1A gene and sudden infant death syndrome. Am J Med Genet A. 2008 Apr 01; 146A(7):930-3. PMID: 18286597.
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    251. Berry-Kravis E, Sumis A, Kim OK, Lara R, Wuu J. Characterization of potential outcome measures for future clinical trials in fragile X syndrome. J Autism Dev Disord. 2008 Oct; 38(9):1751-7. PMID: 18369716.
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    252. Gronli JO, Santucci BA, Leurgans SE, Berry-Kravis EM, Weese-Mayer DE. Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. Pediatr Pulmonol. 2008 Jan; 43(1):77-86. PMID: 18041756.
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    253. Hagerman RJ, Hall DA, Coffey S, Leehey M, Bourgeois J, Gould J, Zhang L, Seritan A, Berry-Kravis E, Olichney J, Miller JW, Fong AL, Carpenter R, Bodine C, Gane LW, Rainin E, Hagerman H, Hagerman PJ. Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems. Clin Interv Aging. 2008; 3(2):251-62. PMID: 18686748.
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    254. Leehey MA, Berry-Kravis E, Goetz CG, Zhang L, Hall DA, Li L, Rice CD, Lara R, Cogswell J, Reynolds A, Gane L, Jacquemont S, Tassone F, Grigsby J, Hagerman RJ, Hagerman PJ. FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. Neurology. 2008 Apr 15; 70(16 Pt 2):1397-402. PMID: 18057320.
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    255. Berry-Kravis E, Abrams L, Coffey SM, Hall DA, Greco C, Gane LW, Grigsby J, Bourgeois JA, Finucane B, Jacquemont S, Brunberg JA, Zhang L, Lin J, Tassone F, Hagerman PJ, Hagerman RJ, Leehey MA. Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Mov Disord. 2007 Oct 31; 22(14):2018-30, quiz 2140. PMID: 17618523.
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    256. Kalman L, Johnson MA, Beck J, Berry-Kravis E, Buller A, Casey B, Feldman GL, Handsfield J, Jakupciak JP, Maragh S, Matteson K, Muralidharan K, Richie KL, Rohlfs EM, Schaefer F, Sellers T, Spector E, Richards CS. Development of genomic reference materials for Huntington disease genetic testing. Genet Med. 2007 Oct; 9(10):719-23. PMID: 18073586.
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    257. Rand CM, Berry-Kravis EM, Zhou L, Fan W, Weese-Mayer DE. Sudden infant death syndrome: rare mutation in the serotonin system FEV gene. Pediatr Res. 2007 Aug; 62(2):180-2. PMID: 17597646.
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    258. Ize-Ludlow D, Gray JA, Sperling MA, Berry-Kravis EM, Milunsky JM, Farooqi IS, Rand CM, Weese-Mayer DE. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood. Pediatrics. 2007 Jul; 120(1):e179-88. PMID: 17606542.
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    259. Tassone F, Adams J, Berry-Kravis EM, Cohen SS, Brusco A, Leehey MA, Li L, Hagerman RJ, Hagerman PJ. CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS). Am J Med Genet B Neuropsychiatr Genet. 2007 Jun 05; 144B(4):566-9. PMID: 17427188.
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    260. Diedrich A, Malow BA, Antic NA, Sato K, McEvoy RD, Mathias CJ, Robertson D, Berry-Kravis EM, Weese-Mayer DE. Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation-confirmed congenital central hypoventilation syndrome. Clin Auton Res. 2007 Jun; 17(3):177-85. PMID: 17541758.
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    261. McConkie-Rosell A, Abrams L, Finucane B, Cronister A, Gane LW, Coffey SM, Sherman S, Nelson LM, Berry-Kravis E, Hessl D, Chiu S, Street N, Vatave A, Hagerman RJ. Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders. J Genet Couns. 2007 Oct; 16(5):593-606. PMID: 17497108.
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    262. Weese-Mayer DE, Ackerman MJ, Marazita ML, Berry-Kravis EM. Sudden Infant Death Syndrome: review of implicated genetic factors. Am J Med Genet A. 2007 Apr 15; 143A(8):771-88. PMID: 17340630.
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    263. Leehey MA, Berry-Kravis E, Min SJ, Hall DA, Rice CD, Zhang L, Grigsby J, Greco CM, Reynolds A, Lara R, Cogswell J, Jacquemont S, Hessl DR, Tassone F, Hagerman R, Hagerman PJ. Progression of tremor and ataxia in male carriers of the FMR1 premutation. Mov Disord. 2007 Jan 15; 22(2):203-6. PMID: 17133502.
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    264. Berry-Kravis E, Goetz CG, Leehey MA, Hagerman RJ, Zhang L, Li L, Nguyen D, Hall DA, Tartaglia N, Cogswell J, Tassone F, Hagerman PJ. Neuropathic features in fragile X premutation carriers. Am J Med Genet A. 2007 Jan 01; 143A(1):19-26. PMID: 17152065.
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    265. Berry-Kravis E, Krause SE, Block SS, Guter S, Wuu J, Leurgans S, Decle P, Potanos K, Cook E, Salt J, Maino D, Weinberg D, Lara R, Jardini T, Cogswell J, Johnson SA, Hagerman R. Effect of CX516, an AMPA-modulating compound, on cognition and behavior in fragile X syndrome: a controlled trial. J Child Adolesc Psychopharmacol. 2006 Oct; 16(5):525-40. PMID: 17069542.
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    266. Hall DA, Berry-Kravis E, Hagerman RJ, Hagerman PJ, Rice CD, Leehey MA. Symptomatic treatment in the fragile X-associated tremor/ataxia syndrome. Mov Disord. 2006 Oct; 21(10):1741-4. PMID: 16773616.
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    267. Berry-Kravis EM, Zhou L, Rand CM, Weese-Mayer DE. Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit Care Med. 2006 Nov 15; 174(10):1139-44. PMID: 16888290.
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    268. Todd ES, Scott NM, Weese-Mayer DE, Weinberg SM, Berry-Kravis EM, Silvestri JM, Kenny AS, Hauptman SA, Zhou L, Marazita ML. Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome. Pediatrics. 2006 Aug; 118(2):e408-14. PMID: 16882781.
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    269. Rand CM, Weese-Mayer DE, Zhou L, Maher BS, Cooper ME, Marazita ML, Berry-Kravis EM. Sudden infant death syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B gene. Am J Med Genet A. 2006 Aug 01; 140(15):1687-91. PMID: 16830328.
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    270. Antic NA, Malow BA, Lange N, McEvoy RD, Olson AL, Turkington P, Windisch W, Samuels M, Stevens CA, Berry-Kravis EM, Weese-Mayer DE. PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood. Am J Respir Crit Care Med. 2006 Oct 15; 174(8):923-7. PMID: 16873766.
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    271. Maher BS, Marazita ML, Rand C, Zhou L, Berry-Kravis EM, Weese-Mayer DE. 3' UTR polymorphism of the serotonin transporter gene and sudden infant death syndrome: haplotype analysis. Am J Med Genet A. 2006 Jul 01; 140(13):1453-7. PMID: 16691588.
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    272. Rand CM, Weese-Mayer DE, Maher BS, Zhou L, Marazita ML, Berry-Kravis EM. Nicotine metabolizing genes GSTT1 and CYP1A1 in sudden infant death syndrome. Am J Med Genet A. 2006 Jul 01; 140(13):1447-52. PMID: 16763966.
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    273. McBride JL, Ramaswamy S, Gasmi M, Bartus RT, Herzog CD, Brandon EP, Zhou L, Pitzer MR, Berry-Kravis EM, Kordower JH. Viral delivery of glial cell line-derived neurotrophic factor improves behavior and protects striatal neurons in a mouse model of Huntington's disease. Proc Natl Acad Sci U S A. 2006 Jun 13; 103(24):9345-50. PMID: 16751280.
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    274. Todd ES, Weinberg SM, Berry-Kravis EM, Silvestri JM, Kenny AS, Rand CM, Zhou L, Maher BS, Marazita ML, Weese-Mayer DE. Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: quantitative pattern of dysmorphology. Pediatr Res. 2006 Jan; 59(1):39-45. PMID: 16327002.
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    275. Hessl D, Tassone F, Loesch DZ, Berry-Kravis E, Leehey MA, Gane LW, Barbato I, Rice C, Gould E, Hall DA, Grigsby J, Wegelin JA, Harris S, Lewin F, Weinberg D, Hagerman PJ, Hagerman RJ. Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. Am J Med Genet B Neuropsychiatr Genet. 2005 Nov 05; 139B(1):115-21. PMID: 16184602.
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    276. Bennett DA, Schneider JA, Wilson RS, Bienias JL, Berry-Kravis E, Arnold SE. Amyloid mediates the association of apolipoprotein E e4 allele to cognitive function in older people. J Neurol Neurosurg Psychiatry. 2005 Sep; 76(9):1194-9. PMID: 16107349.
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    277. Weese-Mayer DE, Berry-Kravis EM, Marazita ML. In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome. Respir Physiol Neurobiol. 2005 Nov 15; 149(1-3):73-82. PMID: 16054879.
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    278. Hall DA, Berry-Kravis E, Jacquemont S, Rice CD, Cogswell J, Zhang L, Hagerman RJ, Hagerman PJ, Leehey MA. Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS). Neurology. 2005 Jul 26; 65(2):299-301. PMID: 16043804.
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    279. Peterson SJ, Tangney CC, Pimentel-Zablah EM, Hjelmgren B, Booth G, Berry-Kravis E. Changes in growth and seizure reduction in children on the ketogenic diet as a treatment for intractable epilepsy. J Am Diet Assoc. 2005 May; 105(5):718-25. PMID: 15883547.
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    280. Schneider JA, Bienias JL, Wilson RS, Berry-Kravis E, Evans DA, Bennett DA. The apolipoprotein E epsilon4 allele increases the odds of chronic cerebral infarction [corrected] detected at autopsy in older persons. Stroke. 2005 May; 36(5):954-9. PMID: 15774818.
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    281. Aggarwal NT, Wilson RS, Beck TL, Bienias JL, Berry-Kravis E, Bennett DA. The apolipoprotein E epsilon4 allele and incident Alzheimer's disease in persons with mild cognitive impairment. Neurocase. 2005 Feb; 11(1):3-7. PMID: 15804918.
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    282. Sheen VL, Jansen A, Chen MH, Parrini E, Morgan T, Ravenscroft R, Ganesh V, Underwood T, Wiley J, Leventer R, Vaid RR, Ruiz DE, Hutchins GM, Menasha J, Willner J, Geng Y, Gripp KW, Nicholson L, Berry-Kravis E, Bodell A, Apse K, Hill RS, Dubeau F, Andermann F, Barkovich J, Andermann E, Shugart YY, Thomas P, Viri M, Veggiotti P, Robertson S, Guerrini R, Walsh CA. Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. Neurology. 2005 Jan 25; 64(2):254-62. PMID: 15668422.
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    283. Berry-Kravis E, Potanos K, Weinberg D, Zhou L, Goetz CG. Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation. Ann Neurol. 2005 Jan; 57(1):144-7. PMID: 15622531.
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    284. Weese-Mayer DE, Berry-Kravis EM, Zhou L. Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS. Am J Respir Crit Care Med. 2005 Jan 01; 171(1):88. PMID: 15615891.
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    285. Goldman JG, Goetz CG, Berry-Kravis E, Leurgans S, Zhou L. Genetic polymorphisms in Parkinson disease subjects with and without hallucinations: an analysis of the cholecystokinin system. Arch Neurol. 2004 Aug; 61(8):1280-4. PMID: 15313848.
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    286. Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Curran ME, Silvestri JM, Marazita ML. Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development. Pediatr Res. 2004 Sep; 56(3):391-5. PMID: 15240857.
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    287. Weese-Mayer DE, Berry-Kravis EM. Genetics of congenital central hypoventilation syndrome: lessons from a seemingly orphan disease. Am J Respir Crit Care Med. 2004 Jul 01; 170(1):16-21. PMID: 15105164.
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    288. Jacquemont S, Farzin F, Hall D, Leehey M, Tassone F, Gane L, Zhang L, Grigsby J, Jardini T, Lewin F, Berry-Kravis E, Hagerman PJ, Hagerman RJ. Aging in individuals with the FMR1 mutation. Am J Ment Retard. 2004 Mar; 109(2):154-64. PMID: 15000674.
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    289. Jacquemont S, Hagerman RJ, Leehey MA, Hall DA, Levine RA, Brunberg JA, Zhang L, Jardini T, Gane LW, Harris SW, Herman K, Grigsby J, Greco CM, Berry-Kravis E, Tassone F, Hagerman PJ. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA. 2004 Jan 28; 291(4):460-9. PMID: 14747503.
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    290. Berry-Kravis E, Potanos K. Psychopharmacology in fragile X syndrome--present and future. Ment Retard Dev Disabil Res Rev. 2004; 10(1):42-8. PMID: 14994287.
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    291. Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Silvestri JM, Curran ME, Marazita ML. Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. Am J Med Genet A. 2003 Dec 15; 123A(3):267-78. PMID: 14608649.
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    292. Weese-Mayer DE, Zhou L, Berry-Kravis EM, Maher BS, Silvestri JM, Marazita ML. Association of the serotonin transporter gene with sudden infant death syndrome: a haplotype analysis. Am J Med Genet A. 2003 Oct 15; 122A(3):238-45. PMID: 12966525.
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    293. Berry-Kravis E, Lewin F, Wuu J, Leehey M, Hagerman R, Hagerman P, Goetz CG. Tremor and ataxia in fragile X premutation carriers: blinded videotape study. Ann Neurol. 2003 May; 53(5):616-23. PMID: 12730995.
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    294. Weese-Mayer DE, Berry-Kravis EM, Maher BS, Silvestri JM, Curran ME, Marazita ML. Sudden infant death syndrome: association with a promoter polymorphism of the serotonin transporter gene. Am J Med Genet A. 2003 Mar 15; 117A(3):268-74. PMID: 12599191.
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    295. Jacquemont S, Hagerman RJ, Leehey M, Grigsby J, Zhang L, Brunberg JA, Greco C, Des Portes V, Jardini T, Levine R, Berry-Kravis E, Brown WT, Schaeffer S, Kissel J, Tassone F, Hagerman PJ. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet. 2003 Apr; 72(4):869-78. PMID: 12638084.
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    296. Evans DA, Bennett DA, Wilson RS, Bienias JL, Morris MC, Scherr PA, Hebert LE, Aggarwal N, Beckett LA, Joglekar R, Berry-Kravis E, Schneider J. Incidence of Alzheimer disease in a biracial urban community: relation to apolipoprotein E allele status. Arch Neurol. 2003 Feb; 60(2):185-9. PMID: 12580702.
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    297. Bennett DA, Wilson RS, Schneider JA, Evans DA, Aggarwal NT, Arnold SE, Cochran EJ, Berry-Kravis E, Bienias JL. Apolipoprotein E epsilon4 allele, AD pathology, and the clinical expression of Alzheimer's disease. Neurology. 2003 Jan 28; 60(2):246-52. PMID: 12552039.
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    298. Wilson RS, Bienias JL, Berry-Kravis E, Evans DA, Bennett DA. The apolipoprotein E epsilon 2 allele and decline in episodic memory. J Neurol Neurosurg Psychiatry. 2002 Dec; 73(6):672-7. PMID: 12438469.
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    299. Brunberg JA, Jacquemont S, Hagerman RJ, Berry-Kravis EM, Grigsby J, Leehey MA, Tassone F, Brown WT, Greco CM, Hagerman PJ. Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR Am J Neuroradiol. 2002 Nov-Dec; 23(10):1757-66. PMID: 12427636.
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    300. Berry-Kravis E. Epilepsy in fragile X syndrome. Dev Med Child Neurol. 2002 Nov; 44(11):724-8. PMID: 12418611.
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    301. Wilson RS, Schneider JA, Barnes LL, Beckett LA, Aggarwal NT, Cochran EJ, Berry-Kravis E, Bach J, Fox JH, Evans DA, Bennett DA. The apolipoprotein E epsilon 4 allele and decline in different cognitive systems during a 6-year period. Arch Neurol. 2002 Jul; 59(7):1154-60. PMID: 12117364.
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    302. Berry-Kravis E, Booth G, Sanchez AC, Woodbury-Kolb J. Carnitine levels and the ketogenic diet. Epilepsia. 2001 Nov; 42(11):1445-51. PMID: 11879348.
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    303. Goetz CG, Burke PF, Leurgans S, Berry-Kravis E, Blasucci LM, Raman R, Zhou L. Genetic variation analysis in parkinson disease patients with and without hallucinations: case-control study. Arch Neurol. 2001 Feb; 58(2):209-13. PMID: 11176958.
      Citations:    
    304. Berry-Kravis E, Booth G, Taylor A, Valentino LA. Bruising and the ketogenic diet: evidence for diet-induced changes in platelet function. Ann Neurol. 2001 Jan; 49(1):98-103. PMID: 11198302.
      Citations:    
    305. Block SS, Brusca-Vega R, Pizzi WJ, Berry-Kravis E, Maino DM, Treitman TM. Cognitive and visual processing skills and their relationship to mutation size in full and premutation female fragile X carriers. Optom Vis Sci. 2000 Nov; 77(11):592-9. PMID: 11138833.
      Citations:    
    306. Berry-Kravis E, Sleat DE, Sohar I, Meyer P, Donnelly R, Lobel P. Prenatal testing for late infantile neuronal ceroid lipofuscinosis. Ann Neurol. 2000 Feb; 47(2):254-7. PMID: 10665500.
      Citations:    
    307. Dobyns WB, Berry-Kravis E, Havernick NJ, Holden KR, Viskochil D. X-linked lissencephaly with absent corpus callosum and ambiguous genitalia. Am J Med Genet. 1999 Oct 08; 86(4):331-7. PMID: 10494089.
      Citations:    
    308. Hsu WT, Shchepin DA, Mao R, Berry-Kravis E, Garber AP, Fischel-Ghodsian N, Falk RE, Carlson DE, Roeder ER, Leeth EA, Hajianpour MJ, Wang JC, Rosenblum-Vos LS, Bhatt SD, Karson EM, Hux CH, Trunca C, Bialer MG, Linn SK, Schreck RR. Mosaic trisomy 16 ascertained through amniocentesis: evaluation of 11 new cases. Am J Med Genet. 1998 Dec 28; 80(5):473-80. PMID: 9880211.
      Citations:    
    309. Berry-Kravis E, Ciurlionis R. Overexpression of fragile X gene (FMR-1) transcripts increases cAMP production in neural cells. J Neurosci Res. 1998 Jan 01; 51(1):41-8. PMID: 9452307.
      Citations:    
    310. Das S, Kubota T, Song M, Daniel R, Berry-Kravis EM, Prior TW, Popovich B, Rosser L, Arinami T, Ledbetter DH. Methylation analysis of the fragile X syndrome by PCR. Genet Test. 1997-1998; 1(3):151-5. PMID: 10464640.
      Citations:    
    311. Banerjee P, Chromy BA, Berry-Kravis E, Hammond D, Singh JK, Dawson G. Stable expression and heterologous coupling of the kappa opioid receptor in cell lines of neural and nonneural origin. Life Sci. 1996; 58(15):1277-84. PMID: 8614281.
      Citations:    
    312. Berry-Kravis E, Hicar M, Ciurlionis R. Reduced cyclic AMP production in fragile X syndrome: cytogenetic and molecular correlations. Pediatr Res. 1995 Nov; 38(5):638-43. PMID: 8552427.
      Citations:    
    313. Merenstein SA, Shyu V, Sobesky WE, Staley L, Berry-Kravis E, Nelson DL, Lugenbeel KA, Taylor AK, Pennington BF, Hagerman RJ. Fragile X syndrome in a normal IQ male with learning and emotional problems. J Am Acad Child Adolesc Psychiatry. 1994 Nov-Dec; 33(9):1316-21. PMID: 7995799.
      Citations:    
    314. Berry-Kravis E, Mao R, Ciurlionis R, Adams A. New Pvu II mitochondrial polymorphism in a mother and son of Indian ancestry. Am J Med Genet. 1994 Oct 15; 53(1):94-6. PMID: 7802049.
      Citations:    
    315. Berry-Kravis E, Israel J. X-linked pachygyria and agenesis of the corpus callosum: evidence for an X chromosome lissencephaly locus. Ann Neurol. 1994 Aug; 36(2):229-33. PMID: 8053659.
      Citations:    
    316. Banerjee P, Boyers MJ, Berry-Kravis E, Dawson G. Preferential beta-hexosaminidase (Hex) A (alpha beta) formation in the absence of beta-Hex B (beta beta) due to heterozygous point mutations present in beta-Hex beta-chain alleles of a motor neuron disease patient. J Biol Chem. 1994 Feb 18; 269(7):4819-26. PMID: 8106452.
      Citations:    
    317. Lindgren V, Rosinsky B, Chin J, Berry-Kravis E. Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence. Am J Med Genet. 1994 Jan 01; 49(1):67-73. PMID: 8172253.
      Citations:    
    318. Banerjee P, Berry-Kravis E, Bonafede-Chhabra D, Dawson G. Heterologous expression of the serotonin 5-HT1A receptor in neural and non-neural cell lines. Biochem Biophys Res Commun. 1993 Apr 15; 192(1):104-10. PMID: 8476411.
      Citations:    
    319. Cook EH, Arora RC, Anderson GM, Berry-Kravis EM, Yan SY, Yeoh HC, Sklena PJ, Charak DA, Leventhal BL. Platelet serotonin studies in hyperserotonemic relatives of children with autistic disorder. Life Sci. 1993; 52(25):2005-15. PMID: 7684805.
      Citations:    
    320. Berry-Kravis E, Sklena P. Demonstration of abnormal cyclic AMP production in platelets from patients with fragile X syndrome. Am J Med Genet. 1993 Jan 01; 45(1):81-7. PMID: 8380312.
      Citations:    
    321. Berry-Kravis E, Huttenlocher PR. Cyclic AMP metabolism in fragile X syndrome. Ann Neurol. 1992 Jan; 31(1):22-6. PMID: 1371909.
      Citations:    
    322. Berry-Kravis E, Kazmierczak BI, Derechin V, Dawson G. Neuromodulator-mediated phosphorylation of specific proteins in a neurotumor hybrid cell line (NCB-20). J Neurochem. 1988 Apr; 50(4):1287-96. PMID: 2450174.
      Citations:    
    323. McLawhon RW, Berry-Kravis E, Dawson G. Differential regulation of multiple neuroreceptors in a somatic cell hybrid by inhibitors of glycoprotein processing. Biochem Biophys Res Commun. 1986 Feb 13; 134(3):1387-94. PMID: 3004490.
      Citations:    
    324. Berry-Kravis E, Dawson G. Possible role of gangliosides in regulating an adenylate cyclase-linked 5-hydroxytryptamine (5-HT1) receptor. J Neurochem. 1985 Dec; 45(6):1739-47. PMID: 2997394.
      Citations:    
    325. Berry-Kravis E, Dawson G. Evidence for [D-Ala2,D-Leu5]enkephalin-induced supersensitivity to 5-hydroxytryptamine in a neurotumor x brain hybrid cell line (NCB-20). J Neurochem. 1985 Dec; 45(6):1731-8. PMID: 2997393.
      Citations:    
    326. Berry-Kravis E, Freedman SB, Dawson G. Specific receptor-mediated inhibition of cyclic AMP synthesis by dopamine in a neuroblastoma X brain hybrid cell line NCB-20. J Neurochem. 1984 Aug; 43(2):413-20. PMID: 6330299.
      Citations:    
    327. Dawson G, Berry-Kravis E. Gangliosides as modulators of the coupling of neurotransmitters to adenylate cyclase. Adv Exp Med Biol. 1984; 174:341-53. PMID: 6146253.
      Citations:    
    328. Berry-Kravis E, Dawson G. Characterization of an adenylate cyclase-linked serotonin (5-HT1) receptor in a neuroblastoma X brain explant hybrid cell line (NCB-20). J Neurochem. 1983 Apr; 40(4):977-85. PMID: 6834055.
      Citations:    
    329. Berry-Kravis E, Dawson G. Modulation of an adenylate cyclase-linked serotonin (5-HT) receptor system in a neuroblastoma x brain explant hybrid cell line (NCB-20) by opiates, prostaglandins, and alpha 2-adrenergic agonists. Adv Biochem Psychopharmacol. 1983; 37:361-72. PMID: 6138954.
      Citations:    
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