Publications by authors named "Jonathan D Picker"

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Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.
Klaus Schmitz-Abe, Qifei Li, Samantha M Rosen, Neeharika Nori, Jill A Madden, Jonathan D Picker

Eur J Hum Genet· September 2019

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Revising the Psychiatric Phenotype of Homocystinuria.
Mohamed A Almuqbil, Susan E Waisbren, Harvey L Levy, Jonathan D Picker

Genet Med· August 2019

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Expanding the phenotypic spectrum associated with OPHN1 variants.
Talia S Schwartz, Monica H Wojcik, Renee C Pelletier, Heather L Edward, Jonathan D Picker

Eur J Med Genet· February 2019

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Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder.
Saumya S Jamuar, Jonathan D Picker, Joan M Stoler

J Pediatr· May 2018

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Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype.
Fanggeng Zou, Kirsty McWalter, Lindsay Schmidt, Amy Decker, Jonathan D Picker

J Neurogenet· March 2018

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Review of Salient Investigational Drugs for the Treatment of Fragile X Syndrome.
Kaizad Munshi, Katherine Pawlowski, Joseph Gonzalez-Heydrich, Jonathan D Picker

J Child Adolesc Psychopharmacol· December 2017

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A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene.
Lance H Rodan, Julie Cohen, Ali Fatemi, Tammy Gillis, Diane Lucente, Jonathan D Picker

Eur J Hum Genet· December 2016

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A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene.
Lance H Rodan, Julie Cohen, Ali Fatemi, Tammy Gillis, Diane Lucente, Jonathan D Picker

Eur J Hum Genet· December 2016

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De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
María Concepción Gil-Rodríguez, Matthew A Deardorff, Morad Ansari, Christopher A Tan, Ilaria Parenti, Jonathan D Picker

Hum Mutat· April 2015

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New innovations: therapeutic opportunities for intellectual disabilities.
Jonathan D Picker, Christopher A Walsh

Ann Neurol· September 2013

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Glutamate carboxypeptidase II and folate deficiencies result in reciprocal protection against cognitive and social deficits in mice: implications for neurodevelopmental disorders.
Laura R Schaevitz, Jonathan D Picker, Jasmine Rana, Nancy H Kolodny, Barry Shane

Dev Neurobiol· June 2012

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Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
Michael S L Ching, Yiping Shen, Wen-Hann Tan, Shafali S Jeste, Eric M Morrow, Jonathan D Picker

Am J Med Genet B Neuropsychiatr Genet· June 2010

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Phenotypic characterization of mice heterozygous for a null mutation of glutamate carboxypeptidase II.
Liqun Han, Jonathan D Picker, Laura R Schaevitz, Guochuan Tsai, Jiamin Feng

Synapse· August 2009

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An altered neonatal behavioral phenotype in Mecp2 mutant mice.
Jonathan D Picker, Rebecca Yang, Laura Ricceri, Joanne Berger-Sweeney

Neuroreport· April 2006

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Do maternal folate and homocysteine levels play a role in neurodevelopmental processes that increase risk for schizophrenia?
Jonathan D Picker, Joseph T Coyle

Harv Rev Psychiatry· January 2006

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Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.
Jonathan D Picker, Ana C Puga, Harvey L Levy, Deborah Marsden, Vivian E Shih

J Pediatr· March 2003

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Multicolor karyotypic interpretation of a heterochromatin-associated marker chromosome in a dysmorphic girl with developmental delay.
Jonathan D Picker, Gerry F Cox, Yao-Shan Fan, Darren J Fowler, Stanislawa Weremowicz

Am J Med Genet· July 2002

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