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Nature Genetics|September 29, 2014
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid featuresDavor Lessel, Bruno Vaz, Swagata Halder, et al.Blood Cancer Discovery|January 15, 2021
An Autochthonous Mouse Model of Myd88- and BCL2-Driven Diffuse Large B-cell Lymphoma Reveals Actionable Molecular VulnerabilitiesRuth Flümann, Tim Rehkämper, Pascal Nieper, et al.American Journal of Human Genetics|September 9, 2017
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental DelaysChristian Windpassinger, Juliette Piard, Carine Bonnard, et al.American Journal of Human Genetics|November 22, 2016
Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair SyndromeF Buket Ü Basmanav, Laura Cau, Aylar Tafazzoli, et al.American Journal of Human Genetics|August 14, 2018
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia SyndromeShereen G Ghosh, Kerstin Becker, He Huang, et al.Nature Genetics|October 27, 2014
Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathyCarol-Anne Martin, Ilyas Ahmad, Anna Klingseisen, et al.Brain : a Journal of Neurology|October 21, 2017
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic featuresCristina Elena Niturad, Dorit Lev, Vera M Kalscheuer, et al.Journal of the American Society of Nephrology : JASN|October 5, 2021
mTOR-Activating Mutations in <i>RRAGD</i> Are Causative for Kidney Tubulopathy and CardiomyopathyKarl P Schlingmann, François Jouret, Kuang Shen, et al.Genome Biology|February 5, 2015
Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing dataLynnette Fernandez-Cuesta, Ruping Sun, Roopika Menon, et al.Nature Communications|March 28, 2014
Frequent mutations in chromatin-remodelling genes in pulmonary carcinoidsLynnette Fernandez-Cuesta, Martin Peifer, Xin Lu, et al.Pageof 33