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Scientific Reports|January 20, 2016
The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum DisorderTara L Wenger, Charlly Kao, Donna M McDonald-McGinn, et al.
American Journal of Human Genetics|May 1, 1993
Molecular analysis of the 18q- syndrome--and correlation with phenotypeA D Kline, M E White, R Wapner, et al.
American Journal of Medical Genetics. Part A|October 15, 2011
Mosaic trisomy 17: variable clinical and cytogenetic presentationRobert Daber, Kimberly A Chapman, Eduardo Ruchelli, et al.
Human Genetics|March 10, 1999
Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patientJ Gecz, E Baker, A Donnelly, et al.
American Journal of Medical Genetics. Part A|January 7, 2004
Independent de novo 22q11.2 deletions in first cousins with DiGeorge/velocardiofacial syndromeSulagna C Saitta, Stacy E Harris, Donna M McDonald-McGinn, et al.
American Journal of Medical Genetics|October 1, 1993
Saethre-Chotzen syndrome with familial translocation at chromosome 7p22C S Reid, L E McMorrow, D M McDonald-McGinn, et al.
American Journal of Medical Genetics. Part A|September 21, 2020
Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndromeK Taylor Wild, Tia Gordon, Elizabeth J Bhoj, et al.
American Journal of Medical Genetics. Part A|November 22, 2013
Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicismJennifer J Johnston, Julie C Sapp, Cynthia Curry, et al.
Clinical Orthopaedics and Related Research|September 15, 2000
Two primary osteosarcomas in a patient with Rothmund-Thomson syndromeK K Anbari, L A Ierardi-Curto, J S Silber, et al.
American Journal of Medical Genetics. Part A|May 16, 2017
CMIP haploinsufficiency in two patients with autism spectrum disorder and co-occurring gastrointestinal issuesMinjie Luo, Jinbo Fan, Tara L Wenger, et al.
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