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American Journal of Human Genetics|February 3, 2007
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardationFrancesca Pasutto, Heinrich Sticht, Gerhard Hammersen, et al.
Brain : a Journal of Neurology|February 1, 2013
Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathyMarian A J Weterman, Peter G Barth, Karin Y van Spaendonck-Zwarts, et al.
Human Genetics|June 20, 2002
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutationsKim Cryns, Markus Pfister, Ronald J E Pennings, et al.
European Journal of Human Genetics : EJHG|September 6, 2019
Copy number variants in lipid metabolism genes are associated with gallstones disease in menEduardo Pérez-Palma, Bernabé I Bustos, Dennis Lal, et al.
American Journal of Human Genetics|July 19, 2011
Faulty initiation of proteoglycan synthesis causes cardiac and joint defectsSevjidmaa Baasanjav, Lihadh Al-Gazali, Taishi Hashiguchi, et al.
Nature Genetics|August 28, 2012
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolismDavid Coelho, Jaeseung C Kim, Isabelle R Miousse, et al.
American Journal of Human Genetics|February 3, 2009
Mutations in SPINT2 cause a syndromic form of congenital sodium diarrheaPeter Heinz-Erian, Thomas Müller, Birgit Krabichler, et al.
JAMA Oncology|March 13, 2020
Association of Germline Variant Status With Therapy Response in High-risk Early-Stage Breast Cancer: A Secondary Analysis of the GeparOcto Randomized Clinical TrialEsther Pohl-Rescigno, Jan Hauke, Sibylle Loibl, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 1, 2025
Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and IchthyosisKeit Men Wong, Reza Maroofian, Kolja Meier, et al.
Cancers|July 9, 2022
Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian CancerMuriel Rolfes, Julika Borde, Kathrin Möllenhoff, et al.
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