Assistant Professor, Pediatrics-Children's Hospital, Harvard Medical School
Medical Genetics
Jonathan D. Picker, MB CHB
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Jonathan Picker is an expert in the field of Medical Genetics. Jonathan Picker is a published doctor. He has 26 papers published. The most current publication "Do curried foods produce micronuclei in buccal epithelial cells?"
Publications
- EEG abnormalities and seizures in genetically diagnosed Fragile X syndrome.
- New innovations: Therapeutic opportunities for Intellectual disabilities.
- Clinical diagnosis by whole-genome sequencing of a prenatal sample.
- Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.
- Glutamate carboxypeptidase II and folate deficiencies result in reciprocal protection against cognitive and social deficits in mice: implications for neurodevelopmenta...
- Phenotypic characterization of mice heterozygous for a null mutation of glutamate carboxypeptidase II.
- Do maternal folate and homocysteine levels play a role in neurodevelopmental processes that increase risk for schizophrenia?
- Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.
- Multicolor karyotypic interpretation of a heterochromatin-associated marker chromosome in a dysmorphic girl with developmental delay.
- Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.
- Clinical genetic testing for patients with autism spectrum disorders.
- Transcranial magnetic stimulation provides means to assess cortical plasticity and excitability in humans with fragile x syndrome and autism spectrum disorder.
- Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome.
- Trisomy 8 mosaicism and favorable outcome after treatment of infantile spasms: case report.
- Neonatal screening for medium--chain acyl-CoA dehydrogenase deficiency.
- Familial deletion within NLGN4 associated with autism and Tourette syndrome.
- Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.
- Further delineation of cardiac abnormalities in Costello syndrome.
- Smith-Lemli-Opitz syndrome in trisomy 13: how does the mix work?
- Chromosomal microarray testing influences medical management.
- Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice.
- A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism.
- Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
- An altered neonatal behavioral phenotype in Mecp2 mutant mice.
- Do curried foods produce micronuclei in buccal epithelial cells?
Schools
University of Aberdeen College Medicine And Medical Sciences
Noble39s Hospital
University Of New Castle
Chldrn39s Hospital
Harvard Chldrn39s Hospital
Doctors Specialties
- Clinical Genetics
- Medical Genetics
Accepted Insurances
Education
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Boston Children's Hospital
Hospital
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Boston Children's Hospital
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