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Elizabeth Berry-Kravis

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


    Collapse Bibliographic 
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    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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    1. 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.
      View in: PubMed
    2. 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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    3. 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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    4. 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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    5. 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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    6. 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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    7. 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.
      View in: PubMed
    8. 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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    9. 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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    10. 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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    11. 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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    12. 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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    13. 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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    14. 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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    15. 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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    16. 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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    17. 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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    18. 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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    19. 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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    20. 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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    21. 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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    22. 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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    23. 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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    24. 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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    25. 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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    26. 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.
      View in: PubMed
    27. 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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    28. 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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    29. 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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    30. 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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    31. 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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    32. 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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    33. 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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    34. 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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    35. 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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    36. 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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    37. 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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    38. 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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    39. 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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    40. 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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    41. 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.
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    42. 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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    43. 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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    44. 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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    45. 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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    46. 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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    47. 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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    48. 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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    49. 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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    50. 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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    51. 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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    52. 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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    53. Berry-Kravis E, Horrigan JP, Tartaglia N, Hagerman R, Kolevzon A, Erickson CA, Hatti S, Snape M, Yaroshinsky A, Stoms G. 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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    54. 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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    55. 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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    56. 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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    57. 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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    58. 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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    59. 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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    60. 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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    61. 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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    62. 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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    63. 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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    64. 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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    65. 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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    66. 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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    67. 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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    68. 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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    69. 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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    70. 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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    71. 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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    157. 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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    159. 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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    161. 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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    162. 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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    163. 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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    164. 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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    166. 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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    167. 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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    168. 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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    169. 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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    173. 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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    174. 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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    176. 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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    180. 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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    181. 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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    182. 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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    183. 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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    184. 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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    185. 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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    189. 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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    193. 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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    197. 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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    199. 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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    201. 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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    203. 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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    204. 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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    205. 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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    206. 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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    207. 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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    209. 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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    210. 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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    212. 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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    213. 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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    215. 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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    217. 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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    218. 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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    223. 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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    224. 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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    226. 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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    228. 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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    229. 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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    230. 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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    231. 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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    232. 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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    233. 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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    234. 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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    235. 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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    236. 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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    237. 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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    238. 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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    239. 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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    240. 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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    241. 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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    242. 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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    243. 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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    244. 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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    245. 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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    246. 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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    247. 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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    248. 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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    249. 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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    250. 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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    251. 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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    252. 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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    253. 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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    254. 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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    255. 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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    256. 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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    257. 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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    258. 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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    259. 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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    260. 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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    261. 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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    262. 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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    263. 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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    264. 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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    265. 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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    266. 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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    267. 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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    268. 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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    269. 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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    270. Berry-Kravis E. Epilepsy in fragile X syndrome. Dev Med Child Neurol. 2002 Nov; 44(11):724-8. PMID: 12418611.
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    271. 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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    272. 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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    273. 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.
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    274. 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.
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    275. 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.
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    276. 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.
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    277. 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.
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    278. 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.
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    279. 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.
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    280. 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.
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    281. 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.
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    282. 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.
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    283. 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.
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    284. 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.
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    285. 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.
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    286. 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.
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    287. 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.
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    288. 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.
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    289. 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.
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    290. 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.
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    291. Berry-Kravis E, Huttenlocher PR. Cyclic AMP metabolism in fragile X syndrome. Ann Neurol. 1992 Jan; 31(1):22-6. PMID: 1371909.
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    292. 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.
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    293. 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.
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    294. 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.
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    295. 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.
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    296. 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.
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    297. 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.
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    298. 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.
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    299. 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.
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