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Jonathan D. Picker, Ph.D., M.D.

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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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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Almuqbil MA, Waisbren SE, Levy HL, Picker JD. Revising the Psychiatric Phenotype of Homocystinuria. Genet Med. 2019 Jan 15. PMID: 30643218.
    Citations:    Fields:    
  2. Whitley BN, Lam C, Cui H, Haude K, Bai R, Escobar L, Hamilton A, Brady L, Tarnopolsky MA, Dengle L, Picker J, Lincoln S, Lackner LL, Glass IA, Hoppins S. Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes. Hum Mol Genet. 2018 11 01; 27(21):3710-3719. PMID: 30085106.
    Citations:    Fields:    
  3. Wojcik MH, Brodsky D, Stewart JE, Picker J. Peri-mortem evaluation of infants who die without a diagnosis: focus on advances in genomic technology. J Perinatol. 2018 Sep; 38(9):1125-1134. PMID: 30076402.
    Citations:    Fields:    
  4. Schwartz TS, Wojcik MH, Pelletier RC, Edward HL, Picker JD, Holm IA, Towne MC, Beggs AH, Agrawal PB. Expanding the phenotypic spectrum associated with OPHN1 variants. Eur J Med Genet. 2019 Feb; 62(2):137-143. PMID: 29960046.
    Citations:    Fields:    
  5. Kim H, Chadwick L, Alzaidi Y, Picker J, Poduri A, Manzi S. HLA-A*31:01 and Oxcarbazepine-Induced DRESS in a Patient With Seizures and Complete DCX Deletion. Pediatrics. 2018 Apr; 141(Suppl 5):S434-S438. PMID: 29610167.
    Citations:    Fields:    
  6. Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK. Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. Am J Med Genet A. 2018 04; 176(4):925-935. PMID: 29436146.
    Citations: 1     Fields:    
  7. Jamuar SS, Picker JD, Stoler JM. Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder. J Pediatr. 2018 05; 196:270-274.e1. PMID: 29398060.
    Citations:    Fields:    
  8. Munshi K, Pawlowski K, Gonzalez-Heydrich J, Picker JD. Review of Salient Investigational Drugs for the Treatment of Fragile X Syndrome. J Child Adolesc Psychopharmacol. 2017 Dec; 27(10):850-863. PMID: 28475355.
    Citations:    Fields:    Translation:HumansAnimals
  9. Zou F, McWalter K, Schmidt L, Decker A, Picker JD, Lincoln S, Sweetser DA, Briere LC, Harini C, Marsh E, Medne L, Wang RY, Leydiker K, Mower A, Visser G, Cuppen I, van Gassen KL, van der Smagt J, Yousaf A, Tennison M, Shanmugham A, Butler E, Richard G, McKnight D. Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype. J Neurogenet. 2017 Mar - Jun; 31(1-2):30-36. PMID: 28460589.
    Citations:    Fields:    Translation:Humans
  10. Garza-Flores A, Hawley P, Picker J, Tannebring E, Deardorff MA, Lin AE. Response to: Toriello et al., "Update on the Toriello-Carey Syndrome." Further delineation of a young woman with deletion 1q42.12-q42.2. Am J Med Genet A. 2017 Apr 26. PMID: 28447379.
    Citations:    Fields:    
  11. Rodan LH, Cohen J, Fatemi A, Gillis T, Lucente D, Gusella J, Picker JD. A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. Eur J Hum Genet. 2016 12; 24(12):1833. PMID: 27834362.
    Citations: 1     Fields:    
  12. Rodan LH, Cohen J, Fatemi A, Gillis T, Lucente D, Gusella J, Picker JD. A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. Eur J Hum Genet. 2016 12; 24(12):1826-1827. PMID: 27329733.
    Citations: 7     Fields:    Translation:Humans
  13. Srivastava S, Olson HE, Cohen JS, Gubbels CS, Lincoln S, Davis BT, Shahmirzadi L, Gupta S, Picker J, Yu TW, Miller DT, Soul JS, Poretti A, Naidu S. BRAT1 mutations present with a spectrum of clinical severity. Am J Med Genet A. 2016 09; 170(9):2265-73. PMID: 27282546.
    Citations: 1     Fields:    Translation:Humans
  14. Oberman LM, Ifert-Miller F, Najib U, Bashir S, Heydrich JG, Picker J, Rotenberg A, Pascual-Leone A. Abnormal Mechanisms of Plasticity and Metaplasticity in Autism Spectrum Disorders and Fragile X Syndrome. J Child Adolesc Psychopharmacol. 2016 09; 26(7):617-24. PMID: 27218148.
    Citations: 7     Fields:    Translation:Humans
  15. Okur V, Cho MT, Henderson L, Retterer K, Schneider M, Sattler S, Niyazov D, Azage M, Smith S, Picker J, Lincoln S, Tarnopolsky M, Brady L, Bjornsson HT, Applegate C, Dameron A, Willaert R, Baskin B, Juusola J, Chung WK. De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. Hum Genet. 2016 07; 135(7):699-705. PMID: 27048600.
    Citations: 3     Fields:    Translation:Humans
  16. Brownstein CA, Kleiman RJ, Engle EC, Towne MC, D'Angelo EJ, Yu TW, Beggs AH, Picker J, Fogler JM, Carroll D, Schmitt RC, Wolff RR, Shen Y, Lip V, Bilguvar K, Kim A, Tembulkar S, O'Donnell K, Gonzalez-Heydrich J. Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reports. Am J Med Genet A. 2016 May; 170A(5):1165-73. PMID: 26887912; PMCID: PMC4833544.
    Citations: 2     Fields:    Translation:HumansCells
  17. Brownstein CA, Beggs AH, Rodan L, Shi J, Towne MC, Pelletier R, Cao S, Rosenberg PA, Urion DK, Picker J, Tan WH, Agrawal PB. Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations. Neurogenetics. 2016 Jan; 17(1):11-6. PMID: 26395884; PMCID: PMC4911217.
    Citations: 4     Fields:    Translation:Humans
  18. Thaker VV, Esteves KM, Towne MC, Brownstein CA, James PM, Crowley L, Hirschhorn JN, Elsea SH, Beggs AH, Picker J, Agrawal PB. Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. J Clin Endocrinol Metab. 2015 May; 100(5):1723-30. PMID: 25781356; PMCID: PMC4422892.
    Citations: 5     Fields:    Translation:Humans
  19. Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, Gervasini C, Gillessen-Kaesbach G, Guo Y, Hakonarson H, Hopkin RJ, Kaur M, Keating BJ, Kibaek M, Kinning E, Kleefstra T, Kline AD, Kuchinskaya E, Larizza L, Li YR, Liu X, Mariani M, Picker JD, Pié Á, Pozojevic J, Queralt E, Richer J, Roeder E, Sinha A, Scott RH, So J, Wusik KA, Wilson L, Zhang J, Gómez-Puertas P, Casale CH, Ström L, Selicorni A, Ramos FJ, Jackson LG, Krantz ID, Das S, Hennekam RC, Kaiser FJ, FitzPatrick DR, Pié J. De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Hum Mutat. 2015 Apr; 36(4):454-62. PMID: 25655089.
    Citations: 10     Fields:    Translation:Humans
  20. Geng J, Picker J, Zheng Z, Zhang X, Wang J, Hisama F, Brown DW, Mullen MP, Harris D, Stoler J, Seman A, Miller DT, Fu Q, Roberts AE, Shen Y. Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield. BMC Genomics. 2014 Dec 17; 15:1127. PMID: 25516202; PMCID: PMC4378009.
    Citations: 15     Fields:    Translation:Humans
  21. Heard TT, Ramgopal S, Picker J, Lincoln SA, Rotenberg A, Kothare SV. EEG abnormalities and seizures in genetically diagnosed Fragile X syndrome. Int J Dev Neurosci. 2014 Nov; 38:155-60. PMID: 25016068.
    Citations: 10     Fields:    Translation:Humans
  22. Picker JD, Walsh CA. New innovations: therapeutic opportunities for intellectual disabilities. Ann Neurol. 2013 Sep; 74(3):382-90. PMID: 24038210; PMCID: PMC3876407.
    Citations: 7     Fields:    Translation:Humans
  23. McLaughlin HM, Kelly MA, Hawley PP, Darras BT, Funke B, Picker J. Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy. BMC Med Genet. 2013 Jul 02; 14:68. PMID: 23815709; PMCID: PMC3711885.
    Citations: 5     Fields:    Translation:HumansCells
  24. Talkowski ME, Ordulu Z, Pillalamarri V, Benson CB, Blumenthal I, Connolly S, Hanscom C, Hussain N, Pereira S, Picker J, Rosenfeld JA, Shaffer LG, Wilkins-Haug LE, Gusella JF, Morton CC. Clinical diagnosis by whole-genome sequencing of a prenatal sample. N Engl J Med. 2012 Dec 06; 367(23):2226-32. PMID: 23215558; PMCID: PMC3579222.
    Citations: 45     Fields:    Translation:Humans
  25. 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.
    Citations: 13     Fields:    Translation:HumansAnimalsCellsPHPublic Health
  26. Poduri A, Chopra SS, Neilan EG, Elhosary PC, Kurian MA, Meyer E, Barry BJ, Khwaja OS, Salih MA, Stödberg T, Scheffer IE, Maher ER, Sahin M, Wu BL, Berry GT, Walsh CA, Picker J, Kothare SV. Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. Epilepsia. 2012 Aug; 53(8):e146-50. PMID: 22690784; PMCID: PMC3851296.
    Citations: 20     Fields:    Translation:Humans
  27. Schaevitz LR, Picker JD, Rana J, Kolodny NH, Shane B, Berger-Sweeney JE, Coyle JT. Glutamate carboxypeptidase II and folate deficiencies result in reciprocal protection against cognitive and social deficits in mice: implications for neurodevelopmental disorders. Dev Neurobiol. 2012 Jun; 72(6):891-905. PMID: 22076974; PMCID: PMC3401954.
    Citations: 1     Fields:    Translation:Animals
  28. Coulter ME, Miller DT, Harris DJ, Hawley P, Picker J, Roberts AE, Sobeih MM, Irons M. Chromosomal microarray testing influences medical management. Genet Med. 2011 Sep; 13(9):770-6. PMID: 21716121.
    Citations: 28     Fields:    Translation:HumansCells
  29. Yu HE, Hawash K, Picker J, Stoler J, Urion D, Wu BL, Shen Y. A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism. Clin Genet. 2012 Mar; 81(3):257-64. PMID: 21255006.
    Citations: 14     Fields:    Translation:HumansCells
  30. Dauber A, Hirschhorn JN, Picker J, Maher TA, Milunsky A. Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome. Pediatrics. 2010 Dec; 126(6):e1594-8. PMID: 21041284.
    Citations: 4     Fields:    Translation:Humans
  31. Oberman L, Ifert-Miller F, Najib U, Bashir S, Woollacott I, Gonzalez-Heydrich J, Picker J, Rotenberg A, Pascual-Leone A. Transcranial magnetic stimulation provides means to assess cortical plasticity and excitability in humans with fragile x syndrome and autism spectrum disorder. Front Synaptic Neurosci. 2010; 2:26. PMID: 21423512.
    Citations: 30     
  32. Ching MS, Shen Y, Tan WH, Jeste SS, Morrow EM, Chen X, Mukaddes NM, Yoo SY, Hanson E, Hundley R, Austin C, Becker RE, Berry GT, Driscoll K, Engle EC, Friedman S, Gusella JF, Hisama FM, Irons MB, Lafiosca T, LeClair E, Miller DT, Neessen M, Picker JD, Rappaport L, Rooney CM, Sarco DP, Stoler JM, Walsh CA, Wolff RR, Zhang T, Nasir RH, Wu BL. Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. Am J Med Genet B Neuropsychiatr Genet. 2010 Jun 05; 153B(4):937-47. PMID: 20468056.
    Citations: 93     Fields:    Translation:Humans
  33. Datta A, Picker J, Rotenberg A. Trisomy 8 mosaicism and favorable outcome after treatment of infantile spasms: case report. J Child Neurol. 2010 Oct; 25(10):1275-7. PMID: 20489041.
    Citations: 1     Fields:    Translation:HumansCells
  34. Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, Miller KJ, Frazier JA, Silverstein I, Picker J, Weissman L, Raffalli P, Jeste S, Demmer LA, Peters HK, Brewster SJ, Kowalczyk SJ, Rosen-Sheidley B, McGowan C, Duda AW, Lincoln SA, Lowe KR, Schonwald A, Robbins M, Hisama F, Wolff R, Becker R, Nasir R, Urion DK, Milunsky JM, Rappaport L, Gusella JF, Walsh CA, Wu BL, Miller DT. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics. 2010 Apr; 125(4):e727-35. PMID: 20231187.
    Citations: 105     Fields:    Translation:Humans
  35. Han L, Picker JD, Schaevitz LR, Tsai G, Feng J, Jiang Z, Chu HC, Basu AC, Berger-Sweeney J, Coyle JT. Phenotypic characterization of mice heterozygous for a null mutation of glutamate carboxypeptidase II. Synapse. 2009 Aug; 63(8):625-35. PMID: 19347959; PMCID: PMC2749286.
    Citations: 10     Fields:    Translation:Animals
  36. Hagerman RJ, Berry-Kravis E, Kaufmann WE, Ono MY, Tartaglia N, Lachiewicz A, Kronk R, Delahunty C, Hessl D, Visootsak J, Picker J, Gane L, Tranfaglia M. Advances in the treatment of fragile X syndrome. Pediatrics. 2009 Jan; 123(1):378-90. PMID: 19117905; PMCID: PMC2888470.
    Citations: 166     Fields:    Translation:HumansAnimals
  37. Ou Z, Berg JS, Yonath H, Enciso VB, Miller DT, Picker J, Lenzi T, Keegan CE, Sutton VR, Belmont J, Chinault AC, Lupski JR, Cheung SW, Roeder E, Patel A. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med. 2008 Apr; 10(4):267-77. PMID: 18414210.
    Citations: 55     Fields:    Translation:HumansCells
  38. Lawson-Yuen A, Saldivar JS, Sommer S, Picker J. Familial deletion within NLGN4 associated with autism and Tourette syndrome. Eur J Hum Genet. 2008 May; 16(5):614-8. PMID: 18231125.
    Citations: 92     Fields:    Translation:Humans
  39. Lawson-Yuen A, Liu D, Han L, Jiang ZI, Tsai GE, Basu AC, Picker J, Feng J, Coyle JT. Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice. Brain Res. 2007 Nov 14; 1180:1-6. PMID: 17936729; PMCID: PMC2706140.
    Citations: 22     Fields:    Translation:Animals
  40. Picker JD, Yang R, Ricceri L, Berger-Sweeney J. An altered neonatal behavioral phenotype in Mecp2 mutant mice. Neuroreport. 2006 Apr 03; 17(5):541-4. PMID: 16543822.
    Citations: 31     Fields:    Translation:Animals
  41. Alkuraya FS, Picker J, Irons MB, Kimonis VE. Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work? Birth Defects Res A Clin Mol Teratol. 2005 Aug; 73(8):569-71. PMID: 15965973.
    Citations: 1     Fields:    Translation:HumansCells
  42. Picker JD, Coyle JT. Do maternal folate and homocysteine levels play a role in neurodevelopmental processes that increase risk for schizophrenia? Harv Rev Psychiatry. 2005 Jul-Aug; 13(4):197-205. PMID: 16126606.
    Citations: 17     Fields:    Translation:Humans
  43. Picker JD & Coyle JT . Do maternal folate and homocysteine levels play a role in neurodevelopmental processes which may relate to schizophrenia genesis. Harvard Review of Psychiatry. 2005; 13(4):197-205.
  44. Picker JD, Levy HL. . Homocystinuria. In: Genereviews at Genetests. 2003.
  45. Picker JD, Puga AC, Levy HL, Marsden D, Shih VE, Degirolami U, Ligon KL, Cederbaum SD, Kern RM, Cox GF. Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. J Pediatr. 2003 Mar; 142(3):349-52. PMID: 12640389.
    Citations: 10     Fields:    Translation:Humans
  46. Lin AE, Grossfeld PD, Hamilton RM, Smoot L, Gripp KW, Proud V, Weksberg R, Wheeler P, Picker J, Irons M, Zackai E, Marino B, Scott CI, Nicholson L. Further delineation of cardiac abnormalities in Costello syndrome. Am J Med Genet. 2002 Aug 01; 111(2):115-29. PMID: 12210337.
    Citations: 18     Fields:    Translation:Humans
  47. Picker JD, Cox GF, Fan YS, Fowler DJ, Weremowicz S, Morton CC, Lee C. Multicolor karyotypic interpretation of a heterochromatin-associated marker chromosome in a dysmorphic girl with developmental delay. Am J Med Genet. 2002 Jul 15; 110(4):393-6. PMID: 12116216.
    Citations:    Fields:    Translation:HumansCells
  48. Fowler DJ, Picker J, Waisbren SE, Levy HL. Neonatal screening for medium--chain acyl-CoA dehydrogenase deficiency. Lancet. 2002 Feb 16; 359(9306):628. PMID: 11867144.
    Citations:    Fields:    Translation:HumansPHPublic Health
  49. Picker JD, Fox DP. Do curried foods produce micronuclei in buccal epithelial cells? Mutat Res. 1986 Aug-Sep; 171(2-3):185-8. PMID: 3748066.
    Citations:    Fields:    Translation:HumansCells
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Funded by the NIH/NCATS Clinical and Translational Science Award (CTSA) program, grant number UL1TR001102, and through institutional support from Harvard University, Harvard Medical School, Harvard T.H. Chan School of Public Health, Beth Israel Deaconess Medical Center, Boston Children's Hospital, Brigham and Women's Hospital, Massachusetts General Hospital and the Dana Farber Cancer Institute.