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Nature Genetics|May 13, 2008
X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairmentLeanne M Dibbens, Patrick S Tarpey, Kim Hynes, et al.Alzheimer'S & Dementia : the Journal of the Alzheimer'S Association|July 14, 2020
Quality of life and caregiver burden in familial frontotemporal lobar degeneration: Analyses of symptomatic and asymptomatic individuals within the LEFFTDS cohortMelanie T Gentry, Maria I Lapid, Jeremy Syrjanen, et al.Nature Genetics|May 24, 2005
A screen of the complete protein kinase gene family identifies diverse patterns of somatic mutations in human breast cancerPhilip Stephens, Sarah Edkins, Helen Davies, et al.Journal of Hepatology|October 5, 2025
Prognostic value of liver stiffness measurement vs. biochemical response in primary biliary cholangitisYu Jun Wong, Laurent Lam, Pierre-Antoine Soret, et al.Cancer Research|September 6, 2005
Somatic mutations of the protein kinase gene family in human lung cancerHelen Davies, Chris Hunter, Raffaella Smith, et al.Nature Genetics|March 31, 2009
Somatic mutations of the histone H3K27 demethylase gene UTX in human cancerGijs van Haaften, Gillian L Dalgliesh, Helen Davies, et al.Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association|July 17, 2024
Dynamics of Liver Stiffness Measurement and Clinical Course of Primary Biliary CholangitisLaurent Lam, Pierre-Antoine Soret, Sara Lemoinne, et al.Cell|May 22, 2012
Mutational processes molding the genomes of 21 breast cancersSerena Nik-Zainal, Ludmil B Alexandrov, David C Wedge, et al.Nature|March 9, 2007
Patterns of somatic mutation in human cancer genomesChristopher Greenman, Philip Stephens, Raffaella Smith, et al.Nature Communications|July 26, 2022
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseasesMallory J Owen, Sebastien Lefebvre, Christian Hansen, et al.Pageof 48