Jonathan Picker, MD, PhD
Director, Fragile X Program; Director, Pharmacogenomic Service; Assistant in Medicine, Division of Genetics and Genomics
Assistant Professor, Harvard Medical School
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Jonathan Picker, MD, PhD
Director, Fragile X Program; Director, Pharmacogenomic Service; Assistant in Medicine, Division of Genetics and Genomics
Assistant Professor, Harvard Medical School
Medical Services
Languages
English
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
Certifications
American Board of Pediatrics (General)
Publications
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome. View Abstract
Fluvoxamine for the treatment of COVID-19. View Abstract
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency. View Abstract
Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort. View Abstract
Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs. View Abstract
Recurrent SLC1A2 variants cause epilepsy via a dominant negative mechanism. View Abstract
Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes. View Abstract
De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. View Abstract
Revising the Psychiatric Phenotype of Homocystinuria. View Abstract
Aberrant Drp1-mediated mitochondrial division presents in humans with variable outcomes. View Abstract
Peri-mortem evaluation of infants who die without a diagnosis: focus on advances in genomic technology. View Abstract
Expanding the phenotypic spectrum associated with OPHN1 variants. View Abstract
HLA-A*31:01 and Oxcarbazepine-Induced DRESS in a Patient With Seizures and Complete DCX Deletion. View Abstract
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. View Abstract
Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder. View Abstract
Review of Salient Investigational Drugs for the Treatment of Fragile X Syndrome. View Abstract
Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype. View Abstract
Response to: Toriello et al., "Update on the Toriello-Carey Syndrome." Further delineation of a young woman with deletion 1q42.12-q42.2. View Abstract
A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. View Abstract
A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene. View Abstract
BRAT1 mutations present with a spectrum of clinical severity. View Abstract
Abnormal Mechanisms of Plasticity and Metaplasticity in Autism Spectrum Disorders and Fragile X Syndrome. View Abstract
De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. View Abstract
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. View Abstract
Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations. View Abstract
Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome. View Abstract
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. View Abstract
Chromosome microarray testing for patients with congenital heart defects reveals novel disease causing loci and high diagnostic yield. View Abstract
EEG abnormalities and seizures in genetically diagnosed Fragile X syndrome. View Abstract
New innovations: therapeutic opportunities for intellectual disabilities. View Abstract
Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy. View Abstract
Clinical diagnosis by whole-genome sequencing of a prenatal sample. View Abstract
Newborn, carrier, and early childhood screening recommendations for fragile X. View Abstract
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy. View Abstract
Glutamate carboxypeptidase II and folate deficiencies result in reciprocal protection against cognitive and social deficits in mice: implications for neurodevelopmental disorders. View Abstract
Chromosomal microarray testing influences medical management. View Abstract
A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism. View Abstract
Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome. View Abstract
Transcranial magnetic stimulation provides means to assess cortical plasticity and excitability in humans with fragile x syndrome and autism spectrum disorder. View Abstract
Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders. View Abstract
Trisomy 8 mosaicism and favorable outcome after treatment of infantile spasms: case report. View Abstract
Clinical genetic testing for patients with autism spectrum disorders. View Abstract
Phenotypic characterization of mice heterozygous for a null mutation of glutamate carboxypeptidase II. View Abstract
Advances in the treatment of fragile X syndrome. View Abstract
Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes. View Abstract
Familial deletion within NLGN4 associated with autism and Tourette syndrome. View Abstract
Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice. View Abstract
An altered neonatal behavioral phenotype in Mecp2 mutant mice. View Abstract
Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work? View Abstract
Do maternal folate and homocysteine levels play a role in neurodevelopmental processes that increase risk for schizophrenia? View Abstract
Do maternal folate and homocysteine levels play a role in neurodevelopmental processes which may relate to schizophrenia genesis View Abstract
Homocystinuria. In: Genereviews at Genetests View Abstract
Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema. View Abstract
Further delineation of cardiac abnormalities in Costello syndrome. View Abstract
Multicolor karyotypic interpretation of a heterochromatin-associated marker chromosome in a dysmorphic girl with developmental delay. View Abstract
Neonatal screening for medium--chain acyl-CoA dehydrogenase deficiency. View Abstract
Do curried foods produce micronuclei in buccal epithelial cells? View Abstract