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Birth Defects Research|June 22, 2019
Copy number variations in individuals with conotruncal heart defects reveal some shared developmental pathways irrespective of 22q11.2 deletion statusHongbo M Xie, Deanne M Taylor, Zhe Zhang, et al.
Schizophrenia Bulletin|October 18, 2017
Attention Deficit Hyperactivity Disorder Symptoms and Psychosis in 22q11.2 Deletion SyndromeMaria Niarchou, Monica E Calkins, Tyler M Moore, et al.
Plastic and Reconstructive Surgery|July 16, 2008
The changing epidemiologic spectrum of single-suture synostosesJesse Selber, Russell R Reid, Chuma J Chike-Obi, et al.
American Journal of Medical Genetics. Part A|August 7, 2013
Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosisKaren W Gripp, Dina J Zand, Laurie Demmer, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|July 21, 2006
Evaluation of potential modifiers of the palatal phenotype in the 22q11.2 deletion syndromeDeborah A Driscoll, Torrey Boland, Beverly S Emanuel, et al.
American Journal of Medical Genetics. Part A|December 25, 2009
A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21Chad R Haldeman-Englert, Kimberly A Chapman, Hillary Kruger, et al.
Molecular Genetics & Genomic Medicine|October 6, 2015
EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid featuresRebecca Ganetzky, Erin Finn, Atrish Bagchi, et al.
Human Mutation|April 19, 2006
Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arraysJeffrey E Ming, Elizabeth Geiger, Alison C James, et al.
European Journal of Human Genetics : EJHG|June 9, 2025
Modeling the long-range effect of an inversion downstream of EFNB1 concludes a 43-year molecular diagnostic odyssey for craniofrontonasal syndromeDong Li, Leticia S Matsuoka, Sarah Donoghue, et al.
Nature Genetics|June 3, 2000
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determinationK W Gripp, D Wotton, M C Edwards, et al.
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