Jonathan Picker

Jonathan Picker

UNVERIFIED PROFILE

Are you Jonathan Picker?   Register this Author

Register author
Jonathan Picker

Jonathan Picker

Publications by authors named "Jonathan Picker"

Are you Jonathan Picker?   Register this Author

48Publications

1129Reads

42Profile Views

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.

Eur J Hum Genet 2019 Sep 12;27(9):1398-1405. Epub 2019 Apr 12.

Division of Newborn Medicine and Neonatal Genomics Program, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41431-019-0401-xDOI Listing
September 2019

Revising the Psychiatric Phenotype of Homocystinuria.

Genet Med 2019 08 15;21(8):1827-1831. Epub 2019 Jan 15.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/s41436-018-0419-4
Publisher Site
http://dx.doi.org/10.1038/s41436-018-0419-4DOI Listing
August 2019

Expanding the phenotypic spectrum associated with OPHN1 variants.

Eur J Med Genet 2019 Feb 28;62(2):137-143. Epub 2018 Jun 28.

Division of Genetics & Genomics, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; The Manton Center for Orphan Disease Research, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA; Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital and Harvard Medical School Boston, MA, 02115, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2018.06.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310103PMC
February 2019

Peri-mortem evaluation of infants who die without a diagnosis: focus on advances in genomic technology.

J Perinatol 2018 09 3;38(9):1125-1134. Epub 2018 Aug 3.

Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41372-018-0187-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6419510PMC
September 2018

Utility of Genetic Testing in Fetal Alcohol Spectrum Disorder.

J Pediatr 2018 05 3;196:270-274.e1. Epub 2018 Feb 3.

Division of Genetics, Boston Children's Hospital, Harvard Medical School, Boston, MA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpeds.2017.12.046DOI Listing
May 2018

and Oxcarbazepine-Induced DRESS in a Patient With Seizures and Complete Deletion.

Pediatrics 2018 04;141(Suppl 5):S434-S438

Clinical Pharmacogenomics Service,

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/peds.2017-1361DOI Listing
April 2018

Review of Salient Investigational Drugs for the Treatment of Fragile X Syndrome.

J Child Adolesc Psychopharmacol 2017 Dec 5;27(10):850-863. Epub 2017 May 5.

1 Department of Psychiatry, Boston Children's Hospital , Boston, Massachusetts.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/cap.2016.0200DOI Listing
December 2017

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 26;173(7):1988-1991. Epub 2017 Apr 26.

Medical Genetics Unit, Department of Pediatrics, Massachusetts General Hospital, Boston, Massachusetts.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38203DOI Listing
July 2017

A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene.

Eur J Hum Genet 2016 12 22;24(12):1826-1827. Epub 2016 Jun 22.

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.

View Article

Download full-text PDF

Source
http://www.nature.com/articles/ejhg201674
Publisher Site
http://dx.doi.org/10.1038/ejhg.2016.74DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5117927PMC
December 2016

Abnormal Mechanisms of Plasticity and Metaplasticity in Autism Spectrum Disorders and Fragile X Syndrome.

J Child Adolesc Psychopharmacol 2016 09 24;26(7):617-24. Epub 2016 May 24.

1 Berenson-Allen Center for Noninvasive Brain Stimulation, Division of Cognitive Neurology, Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School , Boston, Massachusetts.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1089/cap.2015.0166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5111832PMC
September 2016

Clinical heterogeneity associated with KCNA1 mutations include cataplexy and nonataxic presentations.

Neurogenetics 2016 Jan 22;17(1):11-6. Epub 2015 Sep 22.

Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-015-0460-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4911217PMC
January 2016

Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.

J Clin Endocrinol Metab 2015 May 17;100(5):1723-30. Epub 2015 Mar 17.

Division of Endocrinology (V.V.T., J.N.H.), Newborn Medicine (K.M.E., P.B.A.), and Genetics and Genomics (M.C.T., C.A.B., L.C., A.H.B., J.P., P.B.A.), Department of Medicine, and Gene Discovery Core (M.C.T., C.A.B., L.C., A.H.B., J.P., P.B.A.), The Manton Center for Orphan Disease Research, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts 02115; Genetics and Metabolism (P.M.J.), Phoenix Children's Hospital, Phoenix, Arizona 85006; and Department of Molecular and Human Genetics (S.H.E.), Baylor College of Medicine, Houston, Texas 77030.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2014-4215DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422892PMC
May 2015

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. Epub 2014 Dec 17.

Department of Laboratory Medicine, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2164-15-1127DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4378009PMC
December 2014

EEG abnormalities and seizures in genetically diagnosed Fragile X syndrome.

Int J Dev Neurosci 2014 Nov 9;38:155-60. Epub 2014 Jul 9.

Neurology, Boston Children's Hospital, Boston, MA, United States. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ijdevneu.2014.07.002DOI Listing
November 2014

New innovations: therapeutic opportunities for intellectual disabilities.

Ann Neurol 2013 Sep;74(3):382-90

Division of Genetics, Boston Children's Hospital, and Howard Hughes Medical Institute, Boston, MA; Departments of Pediatrics and Neurology,, Harvard Medical School, Boston, MA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.24002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3876407PMC
September 2013

Compound heterozygosity of predicted loss-of-function DES variants in a family with recessive desminopathy.

BMC Med Genet 2013 Jul 2;14:68. Epub 2013 Jul 2.

Laboratory for Molecular Medicine, 65 Landsdowne Street, Cambridge, MA 02139, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/1471-2350-14-68DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3711885PMC
July 2013

Chromosomal microarray testing influences medical management.

Genet Med 2011 Sep;13(9):770-6

Division of Genetics, Children's Hospital Boston, Massachusetts 02115, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/GIM.0b013e31821dd54aDOI Listing
September 2011

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 28;2:26. Epub 2010 Jun 28.

Department of Neurology, Berenson-Allen Center for Noninvasive Brain Stimulation, Beth Israel Deaconess Medical Center, Harvard University Medical School Boston, MA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fnsyn.2010.00026DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3059673PMC
July 2011

Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome.

Pediatrics 2010 Dec 1;126(6):e1594-8. Epub 2010 Nov 1.

Division of Endocrinology, CLS 16, Children's Hospital Boston, 300 Longwood Ave, Boston, MA 02115, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/peds.2010-0164DOI Listing
December 2010

Trisomy 8 mosaicism and favorable outcome after treatment of infantile spasms: case report.

J Child Neurol 2010 Oct 20;25(10):1275-7. Epub 2010 May 20.

Division of Epilepsy, Department of Neurology, Children's Hospital Boston, Boston, Massachusetts, USA.

View Article

Download full-text PDF

Source
http://journals.sagepub.com/doi/10.1177/0883073809357361
Publisher Site
http://dx.doi.org/10.1177/0883073809357361DOI Listing
October 2010

Phenotypic characterization of mice heterozygous for a null mutation of glutamate carboxypeptidase II.

Synapse 2009 Aug;63(8):625-35

Department of Psychiatry, Laboratory of Molecular and Psychiatric Neuroscience, Harvard Medical School and McLean Hospital, Belmont, Massachusetts 02478, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/syn.20649DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2749286PMC
August 2009

Familial deletion within NLGN4 associated with autism and Tourette syndrome.

Eur J Hum Genet 2008 May 30;16(5):614-8. Epub 2008 Jan 30.

Department of Genetics, Children's Hospital Boston, Boston, MA 02115, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5202006DOI Listing
May 2008

Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice.

Brain Res 2007 Nov 24;1180:1-6. Epub 2007 Aug 24.

Department of Psychiatry, Harvard Medical School, McLean Hospital, Belmont, MA 02478, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.brainres.2007.08.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706140PMC
November 2007

An altered neonatal behavioral phenotype in Mecp2 mutant mice.

Neuroreport 2006 Apr;17(5):541-4

Department of Genetics, Children's Hospital, Boston, Massachusetts, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/01.wnr.0000208995.38695.2fDOI Listing
April 2006

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

Department of Genetics, Harvard Medical School; McLean Hospital, Belmont, MA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/10673220500243372DOI Listing
January 2006

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

Division of Genetics and Metabolism, Children's Hospital Boston, Harvard Medical School, MA 02115, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/bdra.20165DOI Listing
August 2005

Arginase deficiency with lethal neonatal expression: evidence for the glutamine hypothesis of cerebral edema.

J Pediatr 2003 Mar;142(3):349-52

Divisions of Genetics and Neuropathology, Children's Hospital Boston, the Department of Neurology, Massachusetts General Hospital, Cambridge, Massachusetts 02115, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1067/mpd.2003.97DOI Listing
March 2003

Further delineation of cardiac abnormalities in Costello syndrome.

Am J Med Genet 2002 Aug;111(2):115-29

Teratology Unit, Pediatric Service, Massachusetts General Hospital, Boston, Massachusetts, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.10558DOI Listing
August 2002