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Patterns (New York, N.Y.)|August 29, 2022
The All of Us Research Program: Data quality, utility, and diversityAndrea H Ramirez, Lina Sulieman, David J Schlueter, et al.
Neuron|October 22, 2013
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathyElizabeth K Ruzzo, José-Mario Capo-Chichi, Bruria Ben-Zeev, et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America|March 28, 2013
Contribution of genetic background, traditional risk factors, and HIV-related factors to coronary artery disease events in HIV-positive personsMargalida Rotger, Tracy R Glass, Thomas Junier, et al.
The New England Journal of Medicine|December 27, 2018
Diagnostic Utility of Exome Sequencing for Kidney DiseaseEmily E Groopman, Maddalena Marasa, Sophia Cameron-Christie, et al.
American Journal of Medical Genetics. Part A|September 9, 2018
Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literatureParisa Hemati, Anya Revah-Politi, Haim Bassan, et al.
American Journal of Human Genetics|November 4, 2017
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney MalformationsSimone Sanna-Cherchi, Kamal Khan, Rik Westland, et al.
The Journal of Clinical Investigation|May 27, 2021
Rare loss-of-function variants in type I IFN immunity genes are not associated with severe COVID-19Gundula Povysil, Guillaume Butler-Laporte, Ning Shang, et al.
American Journal of Human Genetics|April 20, 2010
Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromesErin L Heinzen, Rodney A Radtke, Thomas J Urban, et al.
Epilepsia|May 27, 2021
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severityMichelle E Ernst, Evan H Baugh, Amanda Thomas, et al.
Annals of Neurology|October 1, 2018
NBEA: Developmental disease gene with early generalized epilepsy phenotypesMaureen S Mulhern, Constance Stumpel, Nicholas Stong, et al.
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