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American Journal of Medical Genetics. Part A|July 29, 2022
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER dataAmy Hardcastle, Aliska M Berry, Ian M Campbell, et al.Genome Medicine|September 23, 2017
Identification of novel candidate disease genes from de novo exonic copy number variantsTomasz Gambin, Bo Yuan, Weimin Bi, et al.Nature|April 13, 2023
Tracking early lung cancer metastatic dissemination in TRACERx using ctDNAChristopher Abbosh, Alexander M Frankell, Thomas Harrison, et al.Morbidity and Mortality Weekly Report. Surveillance Summaries (Washington, D.C. : 2002)|April 15, 2025
Prevalence and Early Identification of Autism Spectrum Disorder Among Children Aged 4 and 8 Years - Autism and Developmental Disabilities Monitoring Network, 16 Sites, United States, 2022Kelly A Shaw, Susan Williams, Mary E Patrick, et al.American Journal of Human Genetics|January 31, 2017
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental DisorderSébastien Küry, Thomas Besnard, Frédéric Ebstein, et al.Human Mutation|September 28, 2011
Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeatsPaweł Stankiewicz, Shashikant Kulkarni, Avinash V Dharmadhikari, et al.Journal of Translational Medicine|October 5, 2012
Cancer classification using the Immunoscore: a worldwide task forceJérôme Galon, Franck Pagès, Francesco M Marincola, et al.Biorxiv : the Preprint Server for Biology|June 25, 2020
SARS-CoV-2 mRNA Vaccine Development Enabled by Prototype Pathogen PreparednessKizzmekia S Corbett, Darin Edwards, Sarah R Leist, et al.Nature|August 7, 2020
SARS-CoV-2 mRNA vaccine design enabled by prototype pathogen preparednessKizzmekia S Corbett, Darin K Edwards, Sarah R Leist, et al.The New England Journal of Medicine|April 27, 2017
Tracking the Evolution of Non-Small-Cell Lung CancerMariam Jamal-Hanjani, Gareth A Wilson, Nicholas McGranahan, et al.Pageof 221