PMC Links for OMIM (Select 613457) - PMC

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Items: 3

Select item 94916901.

De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities

Roya Bina, Dena Matalon, Brieana Fregeau, Jacqueline Joani Tarsitano, Ingvild Aukrust, Gunnar Houge, Renee Bend, Hannah Warren, Roger E Stevenson, Kyra Eva Stuurman, A James Barkovich, Elliott H. Sherr

J Med Genet. Author manuscript; available in PMC 2022 Sep 21.

Published in final edited form as: J Med Genet. 2020 Jul; 57(7): 461–465. Published online 2020 Jan 10. doi: 10.1136/jmedgenet-2019-106193

PMCID:: PMC9491690

Abstract Article PDF–173K

Select item 77103462.

First Whole Transcriptome RNAseq on CHD8 Haploinsufficient Patient and Meta-Analyses Across Cellular Models Uncovers Likely Key Pathophysiological Target Genes

Heba Yasin, Robert Stowe, Chi Kin Wong, Puthen Veettil Jithesh, Farah R Zahir

Cureus. 2020 Nov; 12(11): e11571. Published online 2020 Nov 19. doi: 10.7759/cureus.11571

PMCID:: PMC7710346

Abstract Article PDF–2.5M

Select item 25979533.

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

Farah Zahir, Helen V Firth, Agnes Baross, Allen D Delaney, Patrice Eydoux, William T Gibson, Sylvie Langlois, Howard Martin, Lionel Willatt, Marco A Marra, Jan M Friedman

J Med Genet. 2007 Sep; 44(9): 556–561. Published online 2007 Jun 1. doi: 10.1136/jmg.2007.050823