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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.
JCI Insight|October 5, 2023
Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumorsGhada M H Abdel-Salam, Susanne Hellmuth, Elise Gradhand, et al.
Human Molecular Genetics|June 19, 2014
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsyEva M Reinthaler, Dennis Lal, Sebastien Lebon, et al.
Plos One|November 23, 2013
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophiesTobias Eisenberger, Christine Neuhaus, Arif O Khan, 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|December 29, 2005
Genomewide scan and fine-mapping linkage studies in four European samples with bipolar affective disorder suggest a new susceptibility locus on chromosome 1p35-p36 and provides further evidence of loci on chromosome 4q31 and 6q24Johannes Schumacher, Radka Kaneva, Rami Abou Jamra, 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.
Human Mutation|June 16, 2016
Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2Nina Bögershausen, Vincent Gatinois, Vera Riehmer, et al.
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