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American Journal of Human Genetics|August 2, 2007
Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephalyMichael Field, Patrick S Tarpey, Raffaella Smith, et al.Computational Toxicology (Amsterdam, Netherlands)|February 23, 2023
Principles and Procedures for Assessment of Acute Toxicity Incorporating In Silico MethodsCraig M Zwickl, Jessica Graham, Robert Jolly, et al.Nature|January 21, 2011
Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinomaIgnacio Varela, Patrick Tarpey, Keiran Raine, et al.American Journal of Human Genetics|December 23, 2006
Mutations in the gene encoding the Sigma 2 subunit of the adaptor protein 1 complex, AP1S2, cause X-linked mental retardationPatrick S Tarpey, Claire Stevens, Jon Teague, et al.Gastroenterology|September 23, 2022
Greater Transplant-Free Survival in Patients Receiving Obeticholic Acid for Primary Biliary Cholangitis in a Clinical Trial Setting Compared to Real-World External ControlsC Fiorella Murillo Perez, Holly Fisher, Shaun Hiu, et al.Nature Genetics|October 25, 2022
Multiomics study of nonalcoholic fatty liver diseaseGardar Sveinbjornsson, Magnus O Ulfarsson, Rosa B Thorolfsdottir, et al.Journal of Hepatology|July 1, 2022
Liver stiffness measurement by vibration-controlled transient elastography improves outcome prediction in primary biliary cholangitisChristophe Corpechot, Fabrice Carrat, Farid Gaouar, et al.American Journal of Human Genetics|January 20, 2007
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremorPatrick S Tarpey, F Lucy Raymond, Sarah O'Meara, et al.Nature Genetics|March 31, 2025
The complexity of tobacco smoke-induced mutagenesis in head and neck cancerLaura Torrens, Sarah Moody, Ana Carolina de Carvalho, et al.Nature|January 8, 2010
Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genesGillian L Dalgliesh, Kyle Furge, Chris Greenman, et al.Pageof 48