Research Overview

Currently, translating mouse behavioral paradigms to the clinical arena in order to carry out cross species interventional studies that can provide quantifiable data for meaningful trials. Interest remains strong in understanding the mechanisms by which genes influence behavior in rodents to identify targetable treatment options.

Research Background

Jonathan Picker’s background is a mixture clinical pediatrics, genetics and child psychiatry with a PhD in molecular biology (faculty of Agriculture, Newcastle university) focused on gene regulation that followed a Master degree in prokaryotic genetics. Initial medical training and experience was in the United Kingdom before coming to Harvard to do fellowship in both Genetics and Child and adolescent psychiatry. Research thereafter was in Joe Coyle’s lab looking at factors predisposing towards psychosis and brain development and involved collaborations on mouse behavior at Wellesley College with Joanne Berger Sweeney. Since then he has moved to a more translational approach seeking to advance personalized medicine through genomic approaches. He directs the fragile X program and cofounded and co-directs the pharmacogenomics clinic at Boston Children’s Hospital. Research remains oriented towards understanding the mechanisms by which genes influence behavior in rodents to identify targetable treatment options.

Selected Publications

  1. 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 Dec;24(12):1833
  2. Picker JD, Walsh CA. New innovations: therapeutic opportunities for intellectual disabilities. Ann Neurol. 2013 Sep;74(3):382-90.
  3. 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 (*joint senior authors)
  4. Picker JD, Yang R, Ricceri L, Berger-Sweeney J. An altered neonatal behavioral phenotype in Mecp2 mutant mice. Neuroreport. 2006 Apr 3;17(5):541-4
  5. 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.

Education

Medical School

Aberdeen University
1988 Aberdeen Scotland

Medical School

Surgery Salford Royal Hospital
Manchester England

Medical School

Medicine Noble's Hospital
Douglas Isle of Man

Residency

Pediatrics Newcastle University
Newcastle upon Tyne England

Fellowship

Harvard Genetics Program Harvard Medical School
Boston MA

Fellowship

Psychiatry Boston Children's Hospital
Boston MA

Graduate School

Molecular Biology Newcastle University
Newcastle upon Tyne England

Publications

  1. Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. Am J Hum Genet. 2022 04 07; 109(4):601-617. View Abstract
  2. Fluvoxamine for the treatment of COVID-19. Lancet Glob Health. 2022 03; 10(3):e330. View Abstract
  3. Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. Hum Mutat. 2022 04; 43(4):461-470. View Abstract
  4. Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort. Mol Genet Genomic Med. 2021 06; 9(6):e1689. View Abstract
  5. Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs. Hum Mol Genet. 2021 04 26; 30(3-4):135-148. View Abstract
  6. Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism. Ann Neurol. 2019 06; 85(6):921-926. View Abstract
  7. Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. Eur J Hum Genet. 2019 09; 27(9):1398-1405. View Abstract
  8. De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. Eur J Hum Genet. 2019 07; 27(7):1081-1089. View Abstract
  9. Revising the Psychiatric Phenotype of Homocystinuria. Genet Med. 2019 08; 21(8):1827-1831. View Abstract
  10. Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes. Hum Mol Genet. 2018 11 01; 27(21):3710-3719. View Abstract
  11. Peri-mortem evaluation of infants who die without a diagnosis: focus on advances in genomic technology. J Perinatol. 2018 09; 38(9):1125-1134. View Abstract
  12. Expanding the phenotypic spectrum associated with OPHN1 variants. Eur J Med Genet. 2019 Feb; 62(2):137-143. View Abstract
  13. HLA-A*31:01 and Oxcarbazepine-Induced DRESS in a Patient With Seizures and Complete DCX Deletion. Pediatrics. 2018 04; 141(Suppl 5):S434-S438. View Abstract
  14. Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. Am J Med Genet A. 2018 04; 176(4):925-935. View Abstract
  15. Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder. J Pediatr. 2018 05; 196:270-274.e1. View Abstract
  16. Review of Salient Investigational Drugs for the Treatment of Fragile X Syndrome. J Child Adolesc Psychopharmacol. 2017 Dec; 27(10):850-863. View Abstract
  17. 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. View Abstract
  18. 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 Jul; 173(7):1988-1991. View Abstract
  19. A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. Eur J Hum Genet. 2016 12; 24(12):1833. View Abstract
  20. A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. Eur J Hum Genet. 2016 12; 24(12):1826-1827. View Abstract
  21. BRAT1 mutations present with a spectrum of clinical severity. Am J Med Genet A. 2016 09; 170(9):2265-73. View Abstract
  22. Abnormal Mechanisms of Plasticity and Metaplasticity in Autism Spectrum Disorders and Fragile X Syndrome. J Child Adolesc Psychopharmacol. 2016 09; 26(7):617-24. View Abstract
  23. De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. Hum Genet. 2016 07; 135(7):699-705. View Abstract
  24. 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. View Abstract
  25. Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations. Neurogenetics. 2016 Jan; 17(1):11-6. View Abstract
  26. 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. View Abstract
  27. De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Hum Mutat. 2015 Apr; 36(4):454-62. View Abstract
  28. 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. View Abstract
  29. EEG abnormalities and seizures in genetically diagnosed Fragile X syndrome. Int J Dev Neurosci. 2014 Nov; 38:155-60. View Abstract
  30. New innovations: therapeutic opportunities for intellectual disabilities. Ann Neurol. 2013 Sep; 74(3):382-90. View Abstract
  31. Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy. BMC Med Genet. 2013 Jul 02; 14:68. View Abstract
  32. Clinical diagnosis by whole-genome sequencing of a prenatal sample. N Engl J Med. 2012 Dec 06; 367(23):2226-32. View Abstract
  33. Newborn, carrier, and early childhood screening recommendations for fragile X. Pediatrics. 2012 Dec; 130(6):1126-35. View Abstract
  34. Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. Epilepsia. 2012 Aug; 53(8):e146-50. View Abstract
  35. 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. View Abstract
  36. Chromosomal microarray testing influences medical management. Genet Med. 2011 Sep; 13(9):770-6. View Abstract
  37. 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. View Abstract
  38. Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome. Pediatrics. 2010 Dec; 126(6):e1594-8. View Abstract
  39. 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. View Abstract
  40. 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. View Abstract
  41. Trisomy 8 mosaicism and favorable outcome after treatment of infantile spasms: case report. J Child Neurol. 2010 Oct; 25(10):1275-7. View Abstract
  42. Clinical genetic testing for patients with autism spectrum disorders. Pediatrics. 2010 Apr; 125(4):e727-35. View Abstract
  43. Phenotypic characterization of mice heterozygous for a null mutation of glutamate carboxypeptidase II. Synapse. 2009 Aug; 63(8):625-35. View Abstract
  44. Advances in the treatment of fragile X syndrome. Pediatrics. 2009 Jan; 123(1):378-90. View Abstract
  45. Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. Genet Med. 2008 Apr; 10(4):267-77. View Abstract
  46. Familial deletion within NLGN4 associated with autism and Tourette syndrome. Eur J Hum Genet. 2008 May; 16(5):614-8. View Abstract
  47. Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice. Brain Res. 2007 Nov 14; 1180:1-6. View Abstract
  48. An altered neonatal behavioral phenotype in Mecp2 mutant mice. Neuroreport. 2006 Apr 03; 17(5):541-4. View Abstract
  49. 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. View Abstract
  50. 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. View Abstract
  51. 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. View Abstract
  52. Homocystinuria. In: Genereviews at Genetests. 2003. View Abstract
  53. Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. J Pediatr. 2003 Mar; 142(3):349-52. View Abstract
  54. Further delineation of cardiac abnormalities in Costello syndrome. Am J Med Genet. 2002 Aug 01; 111(2):115-29. View Abstract
  55. 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. View Abstract
  56. Neonatal screening for medium--chain acyl-CoA dehydrogenase deficiency. Lancet. 2002 Feb 16; 359(9306):628. View Abstract
  57. Do curried foods produce micronuclei in buccal epithelial cells? Mutat Res. 1986 Aug-Sep; 171(2-3):185-8. View Abstract

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