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American Journal of Medical Genetics. Part A|November 15, 2007
Severe presentation of Beckwith-Wiedemann syndrome associated with high levels of constitutional paternal uniparental disomy for chromosome 11p15Adam C Smith, Cheryl Shuman, David Chitayat, et al.CJC Pediatric and Congenital Heart Disease|November 16, 2023
Exploring Barriers and Facilitators to Indirect Cascade Screening for Familial Hypercholesteraemia in a Paediatric/Parent PopulationMegan A Dickson, Laura Zahavich, Janet Rush, et al.Journal of Genetic Counseling|March 9, 2018
Informed Decision-Making in the Context of Prenatal Chromosomal MicroarrayJessica Baker, Cheryl Shuman, David Chitayat, et al.American Journal of Medical Genetics. Part A|September 20, 2016
Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 geneMelita D Irving, Boyan I Dimitrov, Marja Wessels, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2011
Prospective validation of quantitative fluorescent polymerase chain reaction for rapid detection of common aneuploidiesDiane J Allingham-Hawkins, David Chitayat, Vincenzo Cirigliano, et al.Molecular Medicine Reports|April 12, 2011
Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndromeManuela Morleo, Daniela Iaconis, David Chitayat, et al.American Journal of Medical Genetics. Part A|October 17, 2007
Fatal lung fibrosis associated with immunodeficiency and gonadal dysgenesis in 46XX sisters--a new syndromeRaz Somech, Gino R Somers, David Chitayat, et al.Prenatal Diagnosis|August 20, 2010
Fetal cardiac tumors: a single-center experience of 40 casesYoav Yinon, David Chitayat, Susan Blaser, et al.Children (Basel, Switzerland)|August 26, 2023
Parental Preferences for Expanded Newborn Screening: What Are the Limits?Nicole S Y Liang, Abby Watts-Dickens, David Chitayat, et al.Human Mutation|August 9, 2005
SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disordersJürgen Kohlhase, David Chitayat, Dieter Kotzot, et al.Pageof 45