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European Journal of Human Genetics : EJHG|February 5, 2024
Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile EpilepsyMahmoud Koko, Maha A Elseed, Inaam N Mohammed, et al.
The Journal of Clinical Investigation|March 2, 2023
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesisNafisa Nuzhat, Kristof Van Schil, Sandra Liakopoulos, et al.
HGG Advances|May 16, 2022
<i>De novo</i> variants of <i>CSNK2B</i> cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathwayMaria Asif, Emrah Kaygusuz, Marwan Shinawi, et al.
Breast Cancer Research : BCR|January 26, 2018
BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancerNana Weber-Lassalle, Jan Hauke, Juliane Ramser, et al.
American Journal of Human Genetics|July 9, 2013
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disabilityNina Bögershausen, Nassim Shahrzad, Jessica X Chong, et al.
Plos One|October 21, 2017
Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1)Philipp Harter, Jan Hauke, Florian Heitz, et al.
Human Mutation|July 18, 2017
The role of de novo mutations in the development of amyotrophic lateral sclerosisPerry T C van Doormaal, Nicola Ticozzi, Jochen H Weishaupt, et al.
The New England Journal of Medicine|April 28, 2016
Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 MutationsKamel Laghmani, Bodo B Beck, Sung-Sen Yang, et al.
American Journal of Human Genetics|October 1, 2019
Autosomal-Recessive Mutations in MESD Cause Osteogenesis ImperfectaShahida Moosa, Guilherme L Yamamoto, Lutz Garbes, et al.
American Journal of Human Genetics|December 4, 2012
Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndromeLina Basel-Vanagaite, Bruno Dallapiccola, Ramiro Ramirez-Solis, et al.
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