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American Journal of Human Genetics|May 4, 2019
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract ObstructionCaroline M Kolvenbach, Gabriel C Dworschak, Sandra Frese, et al.
Cancer Medicine|March 10, 2018
Gene panel testing of 5589 BRCA1/2-negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian CancerJan Hauke, Judit Horvath, Eva Groß, et al.
American Journal of Human Genetics|July 2, 2019
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe CasesYoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Baratang, et al.
Science (New York, N.Y.)|December 8, 2018
A mechanistic classification of clinical phenotypes in neuroblastomaSandra Ackermann, Maria Cartolano, Barbara Hero, et al.
Cancer Discovery|January 29, 2014
CD74-NRG1 fusions in lung adenocarcinomaLynnette Fernandez-Cuesta, Dennis Plenker, Hirotaka Osada, et al.
Nature Genetics|January 10, 2017
De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal developmentChristopher T Gordon, Shifeng Xue, Gökhan Yigit, et al.
Human Molecular Genetics|August 3, 2013
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodelingDagmar Wieczorek, Nina Bögershausen, Filippo Beleggia, et al.
Nature|October 16, 2015
Telomerase activation by genomic rearrangements in high-risk neuroblastomaMartin Peifer, Falk Hertwig, Frederik Roels, et al.
Brain : a Journal of Neurology|May 2, 2017
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxiaMartina Minnerop, Delia Kurzwelly, Holger Wagner, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 10, 2021
Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomaliesMaria Iqbal, Reza Maroofian, Büşranur Çavdarlı, et al.
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