Reena N. Jethva
Pediatrics
30 Prospect Avenue
Pediatric Genetics & Genomics, Wfan, Room 210
Hackensack, NJ 7601.
Pediatric Genetics & Genomics, Wfan, Room 210
Hackensack, NJ 7601.
Last Updated: 09/26/2026
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Found 12 publications
Newborn Screening for Gaucher Disease: The New Jersey Experience.
Journal: International journal of neonatal screening
Published: February 28, 2025
Correction: Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.
Journal: Molecular psychiatry
Published: July 20, 2021
Disruption of NEUROD2 causes a neurodevelopmental syndrome with autistic features via cell-autonomous defects in forebrain glutamatergic neurons.
Journal: Molecular psychiatry
Published: August 20, 2020
Mitochondrial enzyme dysfunction in autism spectrum disorders; a novel biomarker revealed from buccal swab analysis.
Journal: Biomarkers in medicine
Published: October 07, 2015
Fraternal twins with autism, severe cognitive deficit, and epilepsy: diagnostic role of chromosomal microarray analysis.
Journal: Seminars in pediatric neurology
Published: August 24, 2014
A novel 2q37 microdeletion containing human neural progenitors genes including STK25 results in severe developmental delay, epilepsy, and microcephaly.
Journal: American journal of medical genetics. Part A
Published: June 21, 2014
Co-occurrence of non-mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a liveborn female: case report and review of the literature.
Journal: American journal of medical genetics. Part A
Published: June 15, 2014
Mitochondrial dysfunction in autism.
Journal: Seminars in pediatric neurology
Published: December 17, 2013
Tetrasomy 13q32.2qter due to an apparent inverted duplicated neocentric marker chromosome in an infant with hemangiomas, failure to thrive, laryngomalacia, and tethered cord.
Journal: Birth defects research. Part A, Clinical and molecular teratology
Published: July 17, 2013
Correction of a short cardiac PR interval in a 12-year-old girl with late-onset Pompe disease following enzyme replacement therapy.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 07, 2012
Transplanted bone marrow mononuclear cells and MSCs impart clinical benefit to children with osteogenesis imperfecta through different mechanisms.
Journal: Blood
Published: July 26, 2012
Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.
Journal: American journal of medical genetics. Part A
Published: November 29, 2011
Showing 1-12 of 12
Last Updated: 09/26/2026