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American Journal of Medical Genetics. Part A|April 24, 2019
A novel missense mutation in TFAP2B associated with Char syndrome and central diabetes insipidusHeather L Edward, Alissa M D'Gama, Monica H Wojcik, et al.
Cold Spring Harbor Molecular Case Studies|May 25, 2023
Perinatal-lethal nonimmune fetal hydrops attributed to MECOM-associated bone marrow failureCamille A Dash, Jill A Madden, Christy Cummings, et al.
Pediatric Neurology|September 8, 2016
SLC6A1 Mutation and Ketogenic Diet in Epilepsy With Myoclonic-Atonic SeizuresSamantha Palmer, Meghan C Towne, Phillip L Pearl, et al.
JIMD Reports|November 19, 2016
Hyperammonemia as a Presenting Feature in Two Siblings with FBXL4 VariantsSarah U Morton, Edward G Neilan, Roy W A Peake, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 16, 2025
Implementing customized genomic sequencing reports to empower providers in safety-net Neonatal Intensive Care UnitsAlissa M D'Gama, Jessica Douglas, Sonia Hills, et al.
Cold Spring Harbor Molecular Case Studies|August 24, 2016
Exome sequencing results in successful diagnosis and treatment of a severe congenital anemiaJessica N Lacy, Jacob C Ulirsch, Rachael F Grace, et al.
European Journal of Human Genetics : EJHG|June 29, 2022
A neurodevelopmental disorder caused by a novel de novo SVA insertion in exon 13 of the SRCAP geneBoxun Zhao, Jill A Madden, Jasmine Lin, et al.
Frontiers in Physiology|July 26, 2018
Pressure Overload in Mice With Haploinsufficiency of Striated Preferentially Expressed Gene Leads to Decompensated Heart FailureChang Shu, He Huang, Ying Xu, et al.
Epilepsia|April 5, 2013
Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findingsMarlin Touma, Mugdha Joshi, Meghan C Connolly, et al.
Nepal Medical College Journal : NMCJ|March 26, 2010
Clinical profile and outcome of children presenting with poisoning or intoxication: a hospital based studyS Budhathoki, P Poudel, D Shah, et al.
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