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JAMA Network Open|February 26, 2025
Genetic Alterations, Therapy Response, and Survival Among Patients With Triple-Negative Breast Cancer: A Secondary Analysis of a Randomized Clinical TrialLisa Richters, Oleg Gluz, Nana Weber-Lassalle, et al.
Human Mutation|December 11, 2019
The recurrent postzygotic pathogenic variant p.Glu47Lys in RHOA causes a novel recognizable neuroectodermal phenotypeGökhan Yigit, Ken Saida, Danielle DeMarzo, et al.
Annals of Human Genetics|June 10, 2021
An identical-by-descent novel splice-donor variant in PRUNE1 causes a neurodevelopmental syndrome with prominent dystonia in two consanguineous Sudanese familiesMahmoud Koko, Ashraf Yahia, Liena E Elsayed, et al.
Molecular Metabolism|November 10, 2022
NIK/MAP3K14 in hepatocytes orchestrates NASH to hepatocellular carcinoma progression via JAK2/STAT5 inhibitionAnna Juliane Vesting, Alexander Jais, Paul Klemm, et al.
Molecular Cell|October 16, 2012
eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiationGuntram Borck, Byung-Sik Shin, Barbara Stiller, et al.
American Journal of Human Genetics|December 7, 2014
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndromeNadja Ehmke, Almuth Caliebe, Rainer Koenig, et al.
American Journal of Human Genetics|November 15, 2011
Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like SyndromeStefanie Weber, Holger Thiele, Sevgi Mir, et al.
JAMA Oncology|December 30, 2016
Association Between Loss-of-Function Mutations Within the FANCM Gene and Early-Onset Familial Breast CancerGuido Neidhardt, Jan Hauke, Juliane Ramser, et al.
JCI Insight|March 25, 2025
SEC24C deficiency causes trafficking and glycosylation abnormalities in an epileptic encephalopathy with cataracts and dyserythropoeisisNina Bögershausen, Büsranur Cavdarli, Taylor H Nagai, et al.
Genes|June 2, 2021
Modifier Genes in Microcephaly: A Report on <i>WDR62</i>, <i>CEP63</i>, <i>RAD50</i> and <i>PCNT</i> Variants Exacerbating Disease Caused by Biallelic Mutations of <i>ASPM</i> and <i>CENPJ</i>Ehtisham Ul Haq Makhdoom, Syeda Seema Waseem, Maria Iqbal, et al.
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