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American Journal of Human Genetics|July 31, 2018
Mutations in TOP3A Cause a Bloom Syndrome-like DisorderCarol-Anne Martin, Kata Sarlós, Clare V Logan, et al.Science Translational Medicine|December 17, 2010
Frequent and focal FGFR1 amplification associates with therapeutically tractable FGFR1 dependency in squamous cell lung cancerJonathan Weiss, Martin L Sos, Danila Seidel, et al.The Journal of Clinical Investigation|September 5, 2018
Mutations in multiple components of the nuclear pore complex cause nephrotic syndromeDaniela A Braun, Svjetlana Lovric, David Schapiro, et al.Nature Communications|March 15, 2018
Integrative genomic profiling of large-cell neuroendocrine carcinomas reveals distinct subtypes of high-grade neuroendocrine lung tumorsJulie George, Vonn Walter, Martin Peifer, et al.Nature|May 27, 2021
Swarm Learning for decentralized and confidential clinical machine learningStefanie Warnat-Herresthal, Hartmut Schultze, Krishnaprasad Lingadahalli Shastry, et al.European Journal of Human Genetics : EJHG|June 3, 2020
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndromeTheodore G Drivas, Dong Li, Divya Nair, et al.Nature Genetics|August 13, 2013
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikesJohannes R Lemke, Dennis Lal, Eva M Reinthaler, et al.Nature Genetics|February 14, 2017
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfismJohn J Reynolds, Louise S Bicknell, Paula Carroll, et al.Nature Genetics|August 14, 2012
Lifestyle transitions in plant pathogenic Colletotrichum fungi deciphered by genome and transcriptome analysesRichard J O'Connell, Michael R Thon, Stéphane Hacquard, et al.American Journal of Human Genetics|January 28, 2021
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosisPatricia L Weng, Amar J Majmundar, Kamal Khan, et al.Pageof 33