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Elizabeth M. Berry-Kravis, MD, PhD

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  • Child Neurology
  • Pediatrics
Board Certification:
  • Neurology with Special Qualif in Child Neurology
Faculty Rank: Professor
Medical or Graduate Education: University of Chicago Pritzker School of Medicine
Residency: University of Chicago Medical Center - Pediatrics
Fellowship: University of Chicago Medical Center - Pediatric Neurology
Clinical Expertise:
  • Fragile X syndrome
  • Mitochondrial diseases
  • Neurogenetic diseases
Research Interests:
  • Fragile X syndrome
  • Genotype-phenotype studies of neurodegenerative and neurogenetic diseases
  • Risk factors for neurodegenerative and neurogenetic diseases
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Below is a list of scientific publications for which this practitioner was either the primary author or a contributor. Citations come from PubMed, a database of biomedical literature, life science journals and online books. PubMed is a service of the US Library of Medicine at the National Institutes of Health. Click on the title of the cited work for more information (this will take you directly to Listings go back five years.

  1. Congenital Central Hypoventilation Syndrome: Neurocognition Already Reduced in Preschool-Age Children.
    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
    2015 Sep 17
  2. White matter disease and cognitive impairment in FMR1 premutation carriers.
    Filley CM, Brown MS, Onderko K, Ray M, Bennett RE, Berry-Kravis E, Grigsby J
    2015 May 26
  3. Activation of peroxisome proliferator-activated receptor a induces lysosomal biogenesis in brain cells: Implications for lysosomal storage disorders.
    Ghosh A, Jana M, Modi K, Gonzalez FJ, Sims KB, Berry-Kravis E, Pahan K
    J. Biol. Chem.
    2015 Mar 6
  4. Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).
    O'Keefe JA, Robertson-Dick E, Dunn EJ, Li Y, Deng Y, Fiutko AN, Berry-Kravis E, Hall DA
    2015 Mar 13
  5. Therapeutic Strategies in Fragile X Syndrome: From Bench to Bedside and Back.
    Gross C, Hoffmann A, Bassell GJ, Berry-Kravis EM
    2015 Jul
  6. Gait and Functional Mobility Deficits in Fragile X-Associated Tremor/Ataxia Syndrome.
    O'Keefe JA, Robertson-Dick EE, Hall DA, Berry-Kravis E
    2015 Aug 23
  7. Maternal Consequences of the Detection of Fragile X Carriers in Newborn Screening.
    Bailey DB, Wheeler A, Berry-Kravis E, Hagerman R, Tassone F, Powell CM, Roche M, Gane LW, Sideris J
    2015 Aug
  8. Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours.
    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
    Orphanet J Rare Dis
  9. Erratum: Emerging topics in FXTAS.
    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
    J Neurodev Disord
  10. Cholesterol levels in Fragile X syndrome.
    Berry-Kravis E, Levin R, Shah H, Mathur S, Darnell JC, Ouyang B
    Am. J. Med. Genet. A
    2014 Nov 25
  11. Fragile X Syndrome: A Review of Associated Medical Problems.
    Kidd SA, Lachiewicz A, Barbouth D, Blitz RK, Delahunty C, McBrien D, Visootsak J, Berry-Kravis E
    2014 Nov
  12. Distribution of AGG interruption patterns within nine world populations.
    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
    Intractable Rare Dis Res
    2014 Nov
  13. Fragile X gene expansions are not associated with dementia.
    Hall DA, Bennett DA, Filley CM, Shah RC, Kluger B, Ouyang B, Berry-Kravis E
    Neurobiol. Aging
    2014 May 2
  14. The challenges of clinical trials in fragile X syndrome.
    Jacquemont S, Berry-Kravis E, Hagerman R, von Raison F, Gasparini F, Apostol G, Ufer M, Des Portes V, Gomez-Mancilla B
    Psychopharmacology (Berl.)
    2014 Mar
  15. Climbing the branches of a family tree: diagnosis of fragile x syndrome.
    Visootsak J, Hipp H, Clark H, Berry-Kravis E, Anderson T, Laney D
    J. Pediatr.
    2014 Jun
  16. Developing a utility index for the Aberrant Behavior Checklist (ABC-C) for fragile X syndrome.
    Kerr C, Breheny K, Lloyd A, Brazier J, Bailey DB, Berry-Kravis E, Cohen J, Petrillo J
    Qual Life Res
    2014 Jul 26
  17. Autism and fragile X syndrome.
    Yu TW, Berry-Kravis E
    Semin Neurol
    2014 Jul
  18. Development of mavoglurant and its potential for the treatment of fragile X syndrome.
    Gomez-Mancilla B, Berry-Kravis E, Hagerman R, von Raison F, Apostol G, Ufer M, Gasparini F, Jacquemont S
    Expert Opin Investig Drugs
    2014 Jan
  19. Feasibility, reproducibility, and clinical validity of the pediatric anxiety rating scale-revised for fragile X syndrome.
    Russo-Ponsaran NM, Yesensky J, Hessl D, Berry-Kravis E
    Am J Intellect Dev Disabil
    2014 Jan
  20. Implementation of a markerless motion analysis method to quantify hyperkinesis in males with fragile X syndrome.
    O'Keefe JA, Espinoza Orías AA, Khan H, Hall DA, Berry-Kravis E, Wimmer MA
    Gait Posture
    2014 Feb
  21. Mechanism-based treatments in neurodevelopmental disorders: fragile X syndrome.
    Berry-Kravis E
    Pediatr. Neurol.
    2014 Apr
  22. Emerging topics in FXTAS.
    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
    J Neurodev Disord
  23. Associated features in females with an FMR1 premutation.
    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
    J Neurodev Disord
  24. AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission.
    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
    J Neurodev Disord
  25. New observations in the fragile X-associated tremor/ataxia syndrome (FXTAS) phenotype.
    Fraint A, Vittal P, Szewka A, Bernard B, Berry-Kravis E, Hall DA
    Front Genet
  26. Outcome Measures for Clinical Trials in Fragile X Syndrome.
    Berry-Kravis E, Hessl D, Abbeduto L, Reiss AL, Beckel-Mitchener A, Urv TK,
    J Dev Behav Pediatr
    2013 Sep
  27. Developing BACE-1 inhibitors for FXS.
    Westmark CJ, Berry-Kravis EM, Ikonomidou C, Yin JC, Puglielli L.
    Front Cell Neurosci. 2013
    2013 May 28
    7:77. doi: 10.3389/fncel.2013.00077. Print 2013.
  28. Development of an expressive language sampling procedure in fragile X syndrome: a pilot study.
    Berry-Kravis E, Doll E, Sterling A, Kover ST, Schroeder SM, Mathur S, Abbeduto L.
    J Dev Behav Pediatr. 2013
    2013 May
    34(4):245-51. doi: 10.1097/DBP.0b013e31828742fc.
  29. CDKL5 and ARX Mutations in Males With Early-Onset Epilepsy.
    Mirzaa GM, Paciorkowski AR, Marsh ED, Berry-Kravis EM, Medne L, Grix A, Wirrell EC, Powell BR, Nickels KC, Burton B, Paras A, Kim K, Chung W, Dobyns WB, Das S.
    Pediatr Neurol. 2013
    2013 May
    48(5):367-77. doi: 10.1016/j.pediatrneurol.2012.12.030.
  30. Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation.
    Goldman JG, Eichenseer SR, Berry-Kravis E, Zimnowodzki S, Gregory A, Hogarth P, Hayflick SJ.
    Mov Disord. 2013
    2013 Mar 13. doi: 10.1002/mds.25410. [Epub ahead of print] No abstract available.
  31. Development of a Genomic DNA Reference Material Panel for Myotonic Dystrophy Type 1 (DM1) Genetic Testing.
    Kalman L, Tarleton J, Hitch M, Hegde M, Hjelm N, Berry-Kravis E, Zhou L, Hilbert JE, Luebbe EA, Moxley RT 3rd, Toji L.
    J Mol Diagn. 2013
    2013 Jul
    15(4):518-25. doi: 10.1016/j.jmoldx.2013.03.008. Epub 2013 May 13.
  32. New NBIA subtype: Genetic, clinical, pathologic, and radiographic features of MPAN.
    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.
    Neurology. 2013
    2013 Jan 15
    80(3):268-275. Epub 2012 Dec 26.
  33. MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.
    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.
    Neurogenetics. 2013
    2013 Feb 7. [Epub ahead of print]
  34. Analysis of PAC1 receptor gene variants in Caucasian and African-American infants dying of sudden infant death syndrome.
    Barrett KT, Rodikova E, Weese-Mayer DE, Rand CM, Marazita ML, Cooper ME, Berry-Kravis EM, Bech-Hansen NT, Wilson RJ
    Acta Paediatr.
    2013 Aug 26
  35. Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.
    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.
    Am J Med Genet A. 2013
    2013 Apr
    161(4):771-8. doi: 10.1002/ajmg.a.35833. Epub 2013 Feb 26.
  36. Effects of STX209 (arbaclofen) on neurobehavioral function in children and adults with fragile X syndrome: a randomized, controlled, phase 2 trial.
    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.
    Sci Transl Med. 2012
    2012 Sep 19
  37. Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS).
    Rand CM, Yu M, Jennings LJ, Panesar K, Berry-Kravis EM, Zhou L, Weese-Mayer DE.
    Am J Med Genet A. 2012
    2012 Sep
    158A(9):2297-301. doi: 10.1002/ajmg.a.35499. Epub 2012 Jul 20.
  38. A triple threat: Down syndrome, congenital central hypoventilation syndrome, and Hirschsprung disease.
    Jones KL, Pivnick EK, Hines-Dowell S, Weese-Mayer DE, Berry-Kravis EM, Santiago T, Nnorom C, Pourcyrous M.
    Pediatrics. 2012
    2012 Nov
    130(5):e1382-4. doi: 10.1542/peds.2011-3844. Epub 2012 Oct 8.
  39. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa.
    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, et al.
    Hum Genet. 2012
    2012 Nov
    131(11):1761-73. doi: 10.1007/s00439-012-1197-8. Epub 2012 Jul 8.
  40. Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation: Are We Missing the Diagnosis?
    Nirupam N, Sharma R, Chhapola V, Kanwal SK, Berry-Kravis EM, Kumar V.
    Indian J Pediatr. 2012
    2012 Jul 25. [Epub ahead of print]
  41. Psychometric study of the Aberrant Behavior Checklist in Fragile X Syndrome and implications for targeted treatment.
    Sansone SM, Widaman KF, Hall SS, Reiss AL, Lightbody A, Kaufmann WE, Berry-Kravis E, Lachiewicz A, Brown EC, Hessl D.
    J Autism Dev Disord. 2012
    2012 Jul
    42(7):1377-92. doi: 10.1007/s10803-011-1370-2.
  42. Medication utilization for targeted symptoms in children and adults with fragile X syndrome: US survey.
    Bailey DB Jr, Raspa M, Bishop E, Olmsted M, Mallya UG, Berry-Kravis E.
    J Dev Behav Pediatr. 2012
    2012 Jan
    33(1):62-9. doi: 10.1097/DBP.0b013e318236c0e1.
  43. Therapeutic strategies in fragile X syndrome: dysregulated mGluR signaling and beyond.
    Gross C, Berry-Kravis EM, Bassell GJ.
    Neuropsychopharmacology. 2012
    2012 Jan
    37(1):178-95. doi: 10.1038/npp.2011.137. Epub 2011 Jul 27. Review.
  44. Feasibility, reliability, and clinical validity of the Test of Attentional Performance for Children (KiTAP) in Fragile X syndrome (FXS).
    Knox A, Schneider A, Abucayan F, Hervey C, Tran C, Hessl D, Berry-Kravis E.
    J Neurodev Disord. 2012
    2012 Feb 8
    4(1):2. doi: 10.1186/1866-1955-4-2.
  45. Variable human phenotype associated with novel deletions of the PHOX2B gene.
    Jennings LJ, Yu M, Rand CM, Kravis N, Berry-Kravis EM, Patwari PP, Weese-Mayer DE.
    Pediatr Pulmonol. 2012
    2012 Feb
    47(2):153-61. doi: 10.1002/ppul.21527. Epub 2011 Aug 9.
  46. FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States.
    Tassone F, Long KP, Tong TH, Lo J, Gane LW, Berry-Kravis E, Nguyen D, Mu LY, Laffin J, Bailey DB Jr, Hagerman RJ.
    Genome Med. 2012
    2012 Dec 21
    4(12):100. [Epub ahead of print]
  47. Newborn, carrier, and early childhood screening recommendations for fragile x.
    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.
    Pediatrics. 2012
    2012 Dec
    130(6):1126-35. doi: 10.1542/peds.2012-0693. Epub 2012 Nov 5.
  48. Update on Kleefstra Syndrome.
    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, et al.
    Mol Syndromol. 2012
    2012 Apr
    2(3-5):202-212. Epub 2012 Jan 24.
  49. Clinic-based retrospective analysis of psychopharmacology for behavior in fragile x syndrome.
    Berry-Kravis E, Sumis A, Hervey C, Mathur S.
    Int J Pediatr. 2012
    2012:843016. doi: 10.1155/2012/843016. Epub 2012 Jul 30.
  50. Fragile X syndrome and targeted treatment trials.
    Hagerman R, Lauterborn J, Au J, Berry-Kravis E.
    Results Probl Cell Differ. 2012
    54:297-335. doi: 10.1007/978-3-642-21649-7_17. Review.
  51. Targeted treatments for fragile X syndrome.
    Berry-Kravis E, Knox A, Hervey C.
    J Neurodev Disord. 2011
    2011 Sep
    3(3):193-210. doi: 10.1007/s11689-011-9074-7. Epub 2011 Feb 19.
  52. Monozygotic twins discordant for ROHHAD phenotype.
    Patwari PP, Rand CM, Berry-Kravis EM, Ize-Ludlow D, Weese-Mayer DE.
    Pediatrics. 2011
    2011 Sep
    128(3):e711-5. doi: 10.1542/peds.2011-0155. Epub 2011 Aug 1.
  53. Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice.
    Hunsaker MR, Greco CM, Spath MA, Smits AP, Navarro CS, Tassone F, Kros JM, Severijnen LA, Berry-Kravis EM, Berman RF, Hagerman PJ, Willemsen R, Hagerman RJ, Hukema RK.
    Acta Neuropathol. 2011
    2011 Oct
    122(4):467-79. doi: 10.1007/s00401-011-0860-9. Epub 2011 Jul 23.
  54. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation: analysis of hypothalamic and autonomic candidate genes.
    Rand CM, Patwari PP, Rodikova EA, Zhou L, Berry-Kravis EM, Wilson RJ, Bech-Hansen T, Weese-Mayer DE.
    Pediatr Res. 2011
    2011 Oct
    70(4):375-8. doi: 10.1038/pr.2011.600.
  55. Reliability of eye tracking and pupillometry measures in individuals with fragile X syndrome.
    Farzin F, Scaggs F, Hervey C, Berry-Kravis E, Hessl D.
    J Autism Dev Disord. 2011
    2011 Nov
    41(11):1515-22. doi: 10.1007/s10803-011-1176-2.
  56. Effect of Anticoagulants on Amyloid ß-Protein Precursor and Amyloid Beta Levels in Plasma.
    Westmark CJ, Hervey CM, Berry-Kravis EM, Malter JS.
    J Alzheimers Dis Parkinsonism. 2011
    2011 Jul 24
  57. Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.
    Jacquemont S, Curie A, des Portes V, Torrioli MG, Berry-Kravis E, Hagerman RJ, Ramos FJ, Cornish K, He Y, Paulding C, Neri G, Chen F, Hadjikhani N, Martinet D, Meyer J, Beckmann JS, Delange K, Brun A, Bussy G, Gasparini F, Hilse T, Floesser A, et al.
    Sci Transl Med. 2011
    2011 Jan 5
    3(64):64ra1. doi: 10.1126/scitranslmed.3001708.
  58. Mutations in prickle orthologs cause seizures in flies, mice, and humans.
    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, et al.
    Am J Hum Genet. 2011
    2011 Feb 11
    88(2):138-49. doi: 10.1016/j.ajhg.2010.12.012. Epub 2011 Feb 3.
  59. Autonomic regulation in fragile X syndrome.
    Heilman KJ, Harden ER, Zageris DM, Berry-Kravis E, Porges SW.
    Dev Psychobiol. 2011
    2011 Dec
    53(8):785-95. doi: 10.1002/dev.20551. Epub 2011 May 5.
  60. Executive dysfunction in young FMR1 premutation carriers: forme fruste of FXTAS or new phenotype?
    Berry-Kravis E, Hall DA.
    Neurology. 2011
    2011 Aug 16
    77(7):612-3. doi: 10.1212/WNL.0b013e3182299f98. Epub 2011 Jul 20. No abstract available.
  61. FMR1 gray-zone alleles: association with Parkinson's disease in women?
    Hall DA, Berry-Kravis E, Zhang W, Tassone F, Spector E, Zerbe G, Hagerman PJ, Ouyang B, Leehey MA.
    Mov Disord. 2011
    2011 Aug 15
    26(10):1900-6. doi: 10.1002/mds.23755. Epub 2011 May 12.
  62. Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome.
    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.
    Hum Mol Genet. 2011
    2011 Aug 1
    20(15):3079-92. doi: 10.1093/hmg/ddr211. Epub 2011 May 10.
  63. Racial differences may influence the role of cholecystokinin polymorphisms in Parkinson's disease hallucinations.
    Goldman JG, Marr D, Zhou L, Ouyang B, Leurgans SE, Berry-Kravis E, Goetz CG.
    Mov Disord. 2011
    2011 Aug 1
    26(9):1781-2. doi: 10.1002/mds.23655. Epub 2011 Apr 19. No abstract available.
  64. Reversal of fragile X phenotypes by manipulation of AβPP/Aβ levels in Fmr1KO mice.
    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.
    PLoS One. 2011
    6(10):e26549. doi: 10.1371/journal.pone.0026549. Epub 2011 Oct 26.
  65. Open-label add-on treatment trial of minocycline in fragile X syndrome.
    Paribello C, Tao L, Folino A, Berry-Kravis E, Tranfaglia M, Ethell IM, Ethell DW.
    BMC Neurol. 2010
    2010 Oct 11
    10:91. doi: 10.1186/1471-2377-10-91.
  66. Seizures in fragile X syndrome: characteristics and comorbid diagnoses.
    Berry-Kravis E, Raspa M, Loggin-Hester L, Bishop E, Holiday D, Bailey DB.
    Am J Intellect Dev Disabil. 2010
    2010 Nov
    115(6):461-72. doi: 10.1352/1944-7558-115.6.461.
  67. Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.
    Collins SC, Coffee B, Benke PJ, Berry-Kravis E, Gilbert F, Oostra B, Halley D, Zwick ME, Cutler DJ, Warren ST.
    PLoS One. 2010
    2010 Mar 5
    5(3):e9476. doi: 10.1371/journal.pone.0009476.
  68. An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.
    Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Keens TG, Loghmanee DA, Trang H; ATS Congenital Central Hypoventilation Syndrome Subcommittee.
    Am J Respir Crit Care Med. 2010
    2010 Mar 15
    181(6):626-44. doi: 10.1164/rccm.200807-1069ST.
  69. Aging in fragile X syndrome.
    Utari A, Adams E, Berry-Kravis E, Chavez A, Scaggs F, Ngotran L, Boyd A, Hessl D, Gane LW, Tassone F, Tartaglia N, Leehey MA, Hagerman RJ.
    J Neurodev Disord. 2010
    2010 Jun
    2(2):70-76. Epub 2010 May 12.
  70. Fragile X: leading the way for targeted treatments in autism.
    Wang LW, Berry-Kravis E, Hagerman RJ.
    Neurotherapeutics. 2010
    2010 Jul
    7(3):264-74. doi: 10.1016/j.nurt.2010.05.005. Review.
  71. Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome.
    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.
    Clin Genet. 2010
    2010 Jul
    78(1):38-46. doi: 10.1111/j.1399-0004.2010.01448.x. Epub 2010 Apr 14.
  72. Fibroblast phenotype in male carriers of FMR1 premutation alleles.
    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.
    Hum Mol Genet. 2010
    2010 Jan 15
    19(2):299-312. doi: 10.1093/hmg/ddp497. Epub 2009 Oct 28.
  73. Congenital central hypoventilation syndrome: neurocognitive functioning in school age children.
    Zelko FA, Nelson MN, Leurgans SE, Berry-Kravis EM, Weese-Mayer DE.
    Pediatr Pulmonol. 2010
    2010 Jan
    45(1):92-8. doi: 10.1002/ppul.21170.
  74. A comparative study of the performance of individuals with fragile X syndrome and Fmr1 knockout mice on Hebb-Williams mazes.
    MacLeod LS, Kogan CS, Collin CA, Berry-Kravis E, Messier C, Gandhi R.
    Genes Brain Behav. 2010
    2010 Feb
    9(1):53-64. doi: 10.1111/j.1601-183X.2009.00534.x. Epub 2009 Aug 29.
  75. Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers.
    Jennings LJ, Yu M, Zhou L, Rand CM, Berry-Kravis EM, Weese-Mayer DE.
    Diagn Mol Pathol. 2010
    2010 Dec
    19(4):224-31. doi: 10.1097/PDM.0b013e3181eb92ff.
  76. Evidence of mitochondrial dysfunction in fragile X-associated tremor/ataxia syndrome.
    Ross-Inta C, Omanska-Klusek A, Wong S, Barrow C, Garcia-Arocena D, Iwahashi C, Berry-Kravis E, Hagerman RJ, Hagerman PJ, Giulivi C.
    Biochem J. 2010
    2010 Aug 1
    429(3):545-52. doi: 10.1042/BJ20091960.
  77. Sudden infant death syndrome (SIDS) in African Americans: polymorphisms in the gene encoding the stress peptide pituitary adenylate cyclase-activating polypeptide (PACAP).
    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.
    Acta Paediatr. 2009
    2009 Mar
    98(3):482-9. doi: 10.1111/j.1651-2227.2008.01131.x. Epub 2008 Dec 17.
  78. Prepulse inhibition in fragile X syndrome: feasibility, reliability, and implications for treatment.
    Hessl D, Berry-Kravis E, Cordeiro L, Yuhas J, Ornitz EM, Campbell A, Chruscinski E, Hervey C, Long JM, Hagerman RJ.
    Am J Med Genet B Neuropsychiatr Genet. 2009
    2009 Jun 5
    150B(4):545-53. doi: 10.1002/ajmg.b.30858.
  79. Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.
    Weese-Mayer DE, Rand CM, Berry-Kravis EM, Jennings LJ, Loghmanee DA, Patwari PP, Ceccherini I.
    Pediatr Pulmonol. 2009
    2009 Jun
    44(6):521-35. doi: 10.1002/ppul.21045. Review.
  80. A review of fragile X premutation disorders: expanding the psychiatric perspective.
    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.
    J Clin Psychiatry. 2009
    2009 Jun
    70(6):852-62. doi: 10.4088/JCP.08m04476. Epub 2009 May 5. Review.
  81. Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene.
    Repetto GM, Corrales RJ, Abara SG, Zhou L, Berry-Kravis EM, Rand CM, Weese-Mayer DE.
    Acta Paediatr. 2009
    2009 Jan
    98(1):192-5. doi: 10.1111/j.1651-2227.2008.01039.x. Epub 2008 Sep 16.
  82. Advances in the treatment of fragile X syndrome.
    Hagerman RJ, Berry-Kravis E, Kaufmann WE, Ono MY, Tartaglia N, Lachiewicz A, Kronk R, Delahunty C, Hessl D, Visootsak J, Picker J, Gane L, Tranfaglia M.
    Pediatrics. 2009
    2009 Jan
    123(1):378-90. doi: 10.1542/peds.2008-0317. Review.
  83. HTR2A variation and sudden infant death syndrome: a case-control analysis.
    Rand CM, Berry-Kravis EM, Fan W, Weese-Mayer DE.
    Acta Paediatr. 2009
    2009 Jan
    98(1):58-61. doi: 10.1111/j.1651-2227.2008.01018.x. Epub 2008 Sep 2.
  84. A comparative neuropsychological test battery differentiates cognitive signatures of Fragile X and Down syndrome.
    Kogan CS, Boutet I, Cornish K, Graham GE, Berry-Kravis E, Drouin A, Milgram NW.
    J Intellect Disabil Res. 2009
    2009 Feb
    53(2):125-42. doi: 10.1111/j.1365-2788.2008.01135.x. Epub 2008 Nov 27.
  85. Intrastriatal CERE-120 (AAV-Neurturin) protects striatal and cortical neurons and delays motor deficits in a transgenic mouse model of Huntington's disease.
    Ramaswamy S, McBride JL, Han I, Berry-Kravis EM, Zhou L, Herzog CD, Gasmi M, Bartus RT, Kordower JH.
    Neurobiol Dis. 2009
    2009 Apr
    34(1):40-50. doi: 10.1016/j.nbd.2008.12.005. Epub 2008 Dec 25.
  86. A pilot open label, single dose trial of fenobam in adults with fragile X syndrome
    Berry-Kravis E, Hessl D, Coffey S, Hervey C, Schneider A, Yuhas J, Hutchison J, Snape M, Tranfaglia M, Nguyen DV, Hagerman R
    J Med Genet
    2009 Apr
  87. Early-phase ERK activation as a biomarker for metabolic status in fragile X syndrome.
    Weng N, Weiler IJ, Sumis A, Berry-Kravis E, Greenough WT.
    Am J Med Genet B Neuropsychiatr Genet. 2008
    2008 Oct 5
    147B(7):1253-7. doi: 10.1002/ajmg.b.30765.
  88. Characterization of potential outcome measures for future clinical trials in fragile X syndrome.
    Berry-Kravis E, Sumis A, Kim OK, Lara R, Wuu J.
    J Autism Dev Disord. 2008
    2008 Oct
    38(9):1751-7. doi: 10.1007/s10803-008-0564-8. Epub 2008 Mar 28.
  89. Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death
    Gronli JO, Santucci BA, Leurgans SE, Berry-Kravis EM, Weese-Mayer DE
    Pediatr Pulmonol
    2008 Jan
  90. Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation.
    Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Rand CM.
    Respir Physiol Neurobiol. 2008
    2008 Dec 10
    164(1-2):38-48. doi: 10.1016/j.resp.2008.05.011. Review.
  91. Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome.
    Berry-Kravis E, Sumis A, Hervey C, Nelson M, Porges SW, Weng N, Weiler IJ, Greenough WT.
    J Dev Behav Pediatr. 2008
    2008 Aug
    29(4):293-302. doi: 10.1097/DBP.0b013e31817dc447.
  92. FMR1 CGG repeat length predicts motor dysfunction in premutation carriers.
    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.
    Neurology. 2008
    2008 Apr 15
    70(16 Pt 2):1397-402. Epub 2007 Dec 5.
  93. Genetic variation in the HTR1A gene and sudden infant death syndrome.
    Morley ME, Rand CM, Berry-Kravis EM, Zhou L, Fan W, Weese-Mayer DE.
    Am J Med Genet A. 2008
    2008 Apr 1
    146(7):930-3. doi: 10.1002/ajmg.a.32112. No abstract available.
  94. Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems
    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
    Clin Interv Aging
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