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American Journal of Human Genetics|March 28, 2017
De Novo Truncating Mutations in the Last and Penultimate Exons of PPM1D Cause an Intellectual Disability SyndromeSandra Jansen, Sinje Geuer, Rolph Pfundt, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|May 19, 2016
Advances and unmet needs in genetic, basic and clinical science in Alport syndrome: report from the 2015 International Workshop on Alport SyndromeOliver Gross, Clifford E Kashtan, Michelle N Rheault, et al.American Journal of Human Genetics|April 4, 2020
DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex GenesSanaa Choufani, William T Gibson, Andrei L Turinsky, et al.Clinical Journal of the American Society of Nephrology : CJASN|December 21, 2021
Guidelines for Genetic Testing and Management of Alport SyndromeJudy Savige, Beata S Lipska-Zietkiewicz, Elizabeth Watson, et al.Journal of Medical Genetics|August 16, 2014
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicismMorad Ansari, Gemma Poke, Quentin Ferry, et al.The New England Journal of Medicine|November 10, 2021
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report, Damian Smedley, Katherine R Smith, et al.Pageof 10