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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.


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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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    1. 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 Oct; 66:288-293. PMID: 30243213.
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    2. 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. 2018 Aug 24. PMID: 30172462.
      View in: PubMed
    3. 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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    4. 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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    5. 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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    6. 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-ß-Cyclodextrin. Pediatr Neurol. 2018 Mar; 80:24-34. PMID: 29429782.
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    7. 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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    8. Berry-Kravis EM, Lindemann L, Jønch 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 Apr; 17(4):280-299. PMID: 29217836.
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    9. 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, Lönnqvist 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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    10. 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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    11. 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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    12. 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-ß-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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    13. 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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    14. 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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    15. 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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    16. 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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    17. 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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    18. 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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    19. 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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    20. 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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    21. 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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    22. 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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    23. 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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    24. 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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    25. Hall DA, Robertson E, Shelton AL, Losh MC, Mila M, Moreno EG, Gomez-Anson B, Martínez-Cerdeño 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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    26. 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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    27. 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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    28. 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; PMCID: PMC5012003.
    29. 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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    30. 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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    31. 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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    32. 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; PMCID: PMC4817899.
    33. 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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    34. 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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    35. 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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    36. 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; PMCID: PMC4743124.
    37. 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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    38. 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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    39. 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; PMCID: PMC4860881 [Available on 01/01/17].
    40. 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; PMCID: PMC4548308.
    41. 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; PMCID: PMC4516945.
    42. 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; PMCID: PMC4489963.
    43. 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; PMCID: PMC4451047.
    44. Hall DA, Birch RC, Anheim M, Jønch 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; PMCID: PMC4387583.
    45. 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; PMCID: PMC4400343.
    46. 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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    47. 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; PMCID: PMC4298645.
    48. 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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    49. 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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    50. Yu TW, Berry-Kravis E. Autism and fragile X syndrome. Semin Neurol. 2014 Jul; 34(3):258-65. PMID: 25192504.
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    51. 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; PMCID: PMC4126815.
    52. Wheeler AC, Bailey DB, Berry-Kravis E, Greenberg J, Losh M, Mailick M, Milà 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; PMCID: PMC4121434.
    53. Hall DA, Birch RC, Anheim M, Jønch 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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    54. 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; PMCID: PMC4317522.
    55. 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; PMCID: PMC4613563.
    56. 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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    57. 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; PMCID: PMC4035419.
    58. 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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    59. 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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    60. 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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    61. 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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    62. 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; PMCID: PMC3932172.
    63. O'Keefe JA, Espinoza Orías 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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    64. 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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    65. 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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    66. 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; PMCID: PMC3664772.
    67. 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; PMCID: PMC3699699.
    68. 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; PMCID: PMC3654391.
    69. 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; PMCID: PMC3742321.
    70. 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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    71. 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; PMCID: PMC4396070.
    72. 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; PMCID: PMC3773516.
    73. 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; PMCID: PMC3589182.
    74. 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; PMCID: PMC4064316.
    75. 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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    76. 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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    77. 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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    78. 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; PMCID: PMC3413981.
    79. 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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    157. 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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    158. 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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    159. 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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    160. 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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    161. 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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    162. 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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    163. 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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    164. 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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    165. 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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    166. 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; PMCID: PMC3249442.
    167. 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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    168. 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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    169. 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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    170. 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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    171. 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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    172. 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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    173. 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; PMCID: PMC1180350.
    174. 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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    175. 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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    176. 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; PMCID: PMC1757351.
    177. 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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    178. Berry-Kravis E. Epilepsy in fragile X syndrome. Dev Med Child Neurol. 2002 Nov; 44(11):724-8. PMID: 12418611.
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    179. 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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    180. 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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    181. 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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    182. 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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    183. 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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    184. 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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    185. 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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    186. 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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    187. 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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    188. 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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    189. 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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    190. 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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    191. 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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    192. 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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    193. 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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    194. 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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    195. 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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    196. 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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    197. 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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    198. 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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    199. 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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    200. 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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    201. 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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    202. 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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    203. 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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    204. 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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    205. 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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    206. 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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    207. 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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