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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.Prenatal Diagnosis|October 18, 2008
Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counselingBrigitte Simon-Bouy, Agnès Taillandier, Delphine Fauvert, et al.Prenatal Diagnosis|December 6, 2023
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysisGillian V Blayney, Eoghan Laffan, Preethi A Jacob, et al.Journal of Medical Genetics|March 31, 2018
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disordersRebekah Jobling, Dimitri James Stavropoulos, Christian R Marshall, et al.BMC Pregnancy and Childbirth|February 12, 2022
Adapting obstetric and neonatal services during the COVID-19 pandemic: a scoping reviewShira Gold, Lauren Clarfield, Jennie Johnstone, et al.JAMA Network Open|September 22, 2020
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical ComplexityGregory Costain, Susan Walker, Maria Marano, et al.European Journal of Human Genetics : EJHG|May 22, 2024
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart diseaseKaitlin J Stanley, Kelsey J Kalbfleisch, Olivia M Moran, et al.Pageof 53