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Plos One|August 28, 2018
Rare gene deletions in genetic generalized and Rolandic epilepsiesKamel Jabbari, Dheeraj R Bobbili, Dennis Lal, et al.International Journal of Cancer|September 16, 2014
Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposisSukanya Horpaopan, Isabel Spier, Alexander M Zink, et al.Human Genetics|April 11, 2017
Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disabilityNuria C Bramswig, Hermann-Josef Lüdecke, Fadi F Hamdan, et al.Journal of Medical Genetics|October 17, 2018
Specific combinations of biallelic <i>POLR3A</i> variants cause Wiedemann-Rautenstrauch syndromeStefano Paolacci, Yun Li, Emanuele Agolini, et al.American Journal of Human Genetics|August 2, 2016
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous PolyposisRonja Adam, Isabel Spier, Bixiao Zhao, et al.JAMA Oncology|July 18, 2017
Germline Mutation Status, Pathological Complete Response, and Disease-Free Survival in Triple-Negative Breast Cancer: Secondary Analysis of the GeparSixto Randomized Clinical TrialEric Hahnen, Bianca Lederer, Jan Hauke, et al.American Journal of Human Genetics|December 3, 2014
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndromeMuhammad Sajid Hussain, Agatino Battaglia, Sandra Szczepanski, et al.Med (New York, N.Y.)|May 19, 2022
In-depth cell-free DNA sequencing reveals genomic landscape of Hodgkin's lymphoma and facilitates ultrasensitive residual disease detectionSophia Sobesky, Laman Mammadova, Melita Cirillo, et al.Brain : a Journal of Neurology|October 13, 2022
The genomic landscape across 474 surgically accessible epileptogenic human brain lesionsJavier A López-Rivera, Costin Leu, Marie Macnee, et al.Proceedings of the National Academy of Sciences of the United States of America|May 22, 2023
Germline <i>C1GALT1C1</i> mutation causes a multisystem chaperonopathyFlorian Erger, Rajindra P Aryal, Björn Reusch, et al.Pageof 33