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Epilepsia|July 5, 2014
Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsyEva M Reinthaler, Dennis Lal, Wiktor Jurkowski, et al.
EMBO Molecular Medicine|May 26, 2016
TGFβ signaling directs serrated adenomas to the mesenchymal colorectal cancer subtypeEvelyn Fessler, Jarno Drost, Sander R van Hooff, et al.
Human Genetics|November 29, 2005
SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephalyMasoud Garshasbi, Mohammad Mahdi Motazacker, Kimia Kahrizi, et al.
Gastroenterology|August 30, 2008
Genome-wide association analysis in sarcoidosis and Crohn's disease unravels a common susceptibility locus on 10p12.2Andre Franke, Annegret Fischer, Michael Nothnagel, et al.
Blood|May 27, 2016
Complex karyotypes and KRAS and POT1 mutations impact outcome in CLL after chlorambucil-based chemotherapy or chemoimmunotherapyCarmen Diana Herling, Marion Klaumünzer, Cristiano Krings Rocha, et al.
American Journal of Human Genetics|January 17, 2012
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasminPeter Huppke, Cornelia Brendel, Vera Kalscheuer, et al.
Nature Genetics|December 25, 2007
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2Uwe Kornak, Ellen Reynders, Aikaterini Dimopoulou, et al.
Critical Care Medicine|August 15, 2017
Association of Gender With Outcome and Host Response in Critically Ill Sepsis PatientsLonneke A van Vught, Brendon P Scicluna, Maryse A Wiewel, et al.
American Journal of Human Genetics|May 10, 2011
Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing lossAntje K Huebner, Marta Gandia, Peter Frommolt, et al.
The Lancet. Respiratory Medicine|September 3, 2017
Classification of patients with sepsis according to blood genomic endotype: a prospective cohort studyBrendon P Scicluna, Lonneke A van Vught, Aeilko H Zwinderman, et al.
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