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Human Mutation|October 15, 2008
Molecular investigations to improve diagnostic accuracy in patients with ARC syndromeAndrew R Cullinane, Anna Straatman-Iwanowska, Jeong K Seo, et al.Cell Stem Cell|August 19, 2020
Intrinsic Endocardial Defects Contribute to Hypoplastic Left Heart SyndromeYifei Miao, Lei Tian, Marcy Martin, et al.American Journal of Human Genetics|February 3, 2007
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationFrancesca Pasutto, Heinrich Sticht, Gerhard Hammersen, et al.Journal of Medical Genetics|January 22, 2013
Deletions in 16q24.2 are associated with autism spectrum disorder, intellectual disability and congenital renal malformationGregory Ryan Handrigan, David Chitayat, Anath C Lionel, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2017
Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesisSarah Boissel, Catherine Fallet-Bianco, David Chitayat, et al.Epilepsia|April 30, 2013
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutationMitsuhiro Kato, Takanori Yamagata, Masaya Kubota, et al.American Journal of Human Genetics|September 9, 2017
RAC1 Missense Mutations in Developmental Disorders with Diverse PhenotypesMargot R F Reijnders, Nurhuda M Ansor, Maria Kousi, et al.Human Genetics|August 10, 2006
Clinical and molecular genetic features of ARC syndromePaul Gissen, Louise Tee, Colin A Johnson, et al.BMC Medical Genomics|July 11, 2019
New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndromeEric Chater-Diehl, Resham Ejaz, Cheryl Cytrynbaum, et al.American Journal of Human Genetics|May 6, 2017
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping ConditionsDarci T Butcher, Cheryl Cytrynbaum, Andrei L Turinsky, et al.Pageof 45