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American Journal of Medical Genetics|August 26, 1998
Phenotype of the fibroblast growth factor receptor 2 Ser351Cys mutation: Pfeiffer syndrome type IIIK W Gripp, C A Stolle, D M McDonald-McGinn, et al.American Journal of Medical Genetics. Part A|January 7, 2023
Genomic sequencing in a cohort of individuals with fibular aplasia, tibial campomelia, and oligosyndactyly (FATCO) syndromeDena R Matalon, Elizabeth J Bhoj, Dong Li, et al.American Journal of Medical Genetics. Part A|January 12, 2013
A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndromeBrittney Murray, Rohan Wagle, Nuria Amat-Alarcon, et al.Human Molecular Genetics|November 1, 1994
Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)S T Lee, R D Nicholls, R E Schnur, et al.The Journal of Pediatrics|April 17, 2022
The Genomics of Congenital Diaphragmatic Hernia: A 10-Year Retrospective ReviewK Taylor Wild, Erica Schindewolf, Holly L Hedrick, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|September 14, 2016
IQ and hemizygosity for the Val158 Met functional polymorphism of COMT in 22q11DSColleen P Franconi, Donna McDonald-McGinn, Elaine H Zackai, et al.American Journal of Human Genetics|February 7, 2015
Mouse and human CRKL is dosage sensitive for cardiac outflow tract formationSilvia E Racedo, Donna M McDonald-McGinn, Jonathan H Chung, et al.Ecology and Evolution|October 13, 2025
Exposure to Rivals Does Not Affect Male Mate Choice in Drosophila melanogasterHarini Shankar, Avigayil Lev, Rachel S Halpern, et al.American Journal of Medical Genetics. Part A|June 26, 2015
Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disordersAddie Nesbitt, Elizabeth J Bhoj, Kristin McDonald Gibson, et al.Human Genetics|February 18, 2005
Molecular analysis of congenital scoliosis: a candidate gene approachMelissa K Maisenbacher, Ji-Soo Han, Megan L O'brien, et al.Pageof 63