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American Journal of Medical Genetics. Part A|February 19, 2016
Generating a taxonomy for genetic conditions relevant to reproductive planningDiane M Korngiebel, Carmit K McMullen, Laura M Amendola, et al.
Human Molecular Genetics|May 26, 2019
Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15Hanyin Cheng, Leah Gottlieb, Elaine Marchi, et al.
American Journal of Medical Genetics. Part A|November 21, 2012
Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networksMauro Longoni, Kasper Lage, Meaghan K Russell, et al.
American Journal of Human Genetics|June 25, 2011
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiencyAlan F Rope, Kai Wang, Rune Evjenth, et al.
Contemporary Clinical Trials|May 13, 2021
Cancer Health Assessments Reaching Many (CHARM): A clinical trial assessing a multimodal cancer genetics services delivery program and its impact on diverse populationsKathleen F Mittendorf, Tia L Kauffman, Laura M Amendola, et al.
American Journal of Human Genetics|December 7, 2015
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological ManifestationsJason A O'Rawe, Yiyang Wu, Max J Dörfel, et al.
Human Mutation|July 31, 2010
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutationsJennifer J Johnston, Julie C Sapp, Joyce T Turner, et al.
American Journal of Human Genetics|January 8, 2021
A dyadic approach to the delineation of diagnostic entities in clinical genomicsLeslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.
American Journal of Human Genetics|April 17, 2018
Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital AnomaliesHanyin Cheng, Avinash V Dharmadhikari, Sylvia Varland, et al.
American Journal of Medical Genetics. Part A|June 28, 2023
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanismsManinder Kaur, Justin Blair, Batsal Devkota, et al.
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