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Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2022
Centers for Mendelian Genomics: A decade of facilitating gene discoverySamantha M Baxter, Jennifer E Posey, Nicole J Lake, et al.Nature Genetics|July 31, 2012
Exome sequencing identifies recurrent somatic RAC1 mutations in melanomaMichael Krauthammer, Yong Kong, Byung Hak Ha, et al.Kidney International Reports|February 22, 2021
Recessive Mutations in <i>SYNPO2</i> as a Candidate of Monogenic Nephrotic SyndromeYouying Mao, Ronen Schneider, Peter F M van der Ven, et al.Nature|January 1, 2025
Dysregulation of mTOR signalling is a converging mechanism in lissencephalyCe Zhang, Dan Liang, A Gulhan Ercan-Sencicek, et al.Journal of the International AIDS Society|August 9, 2024
Acceptability, usability, and willingness to pay for HIV self-test kits distributed through community-based, PLHIV network-led and private practitioners models in India: Results from the STAR III InitiativeChinmay Laxmeshwar, Asha Hegde, Alpana Dange, et al.Proceedings of the National Academy of Sciences of the United States of America|January 30, 2013
Landscape of somatic single-nucleotide and copy-number mutations in uterine serous carcinomaSiming Zhao, Murim Choi, John D Overton, et al.Journal of the American Society of Nephrology : JASN|November 22, 2022
Genetic Variants in ARHGEF6 Cause Congenital Anomalies of the Kidneys and Urinary Tract in Humans, Mice, and FrogsVerena Klämbt, Florian Buerger, Chunyan Wang, et al.American Journal of Human Genetics|November 24, 2020
DAAM2 Variants Cause Nephrotic Syndrome via Actin DysregulationRonen Schneider, Konstantin Deutsch, Gregory J Hoeprich, et al.Nature Genetics|November 11, 2008
Susceptibility loci for intracranial aneurysm in European and Japanese populationsKaya Bilguvar, Katsuhito Yasuno, Mika Niemelä, et al.Cell Reports|October 7, 2014
De novo insertions and deletions of predominantly paternal origin are associated with autism spectrum disorderShan Dong, Michael F Walker, Nicholas J Carriero, et al.Pageof 166