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Plos Genetics|December 4, 2009
Mutations in GDF5 reveal a key residue mediating BMP inhibition by NOGGINPetra Seemann, Anja Brehm, Jana König, et al.JCI Insight|March 24, 2025
Altered chaperone-nonmuscle myosin II interactions drive pathogenicity of the UNC45A c.710T>C variant in osteo-oto-hepato-enteric syndromeStephanie Waich, Karin Kreidl, Julia Vodopiutz, et al.Clinical Genetics|March 30, 2024
Kinesin family member 12-related hepatopathy: A generally indolent disorder with elevated gamma-glutamyl-transferase activityGeorg-Friedrich Vogel, Alexandra Podpeskar, Dietmar Rieder, et al.Brain : a Journal of Neurology|June 15, 2015
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathiesDana Safka Brozkova, Tine Deconinck, Laurie Beth Griffin, et al.American Journal of Human Genetics|December 9, 2004
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardationLars Riff Jensen, Marion Amende, Ulf Gurok, et al.American Journal of Human Genetics|January 4, 2011
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type IChristian Guelly, Peng-Peng Zhu, Lea Leonardis, et al.Clinical Journal of the American Society of Nephrology : CJASN|June 18, 2016
Genetic, Environmental, and Disease-Associated Correlates of Vitamin D Status in Children with CKDAnke Doyon, Bettina Schmiedchen, Anja Sander, et al.Journal of Medical Genetics|February 1, 2011
High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasiaSerena Nik-Zainal, Reiner Strick, Mekayla Storer, et al.Nature Communications|July 7, 2016
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfectaUschi Lindert, Wayne A Cabral, Surasawadee Ausavarat, et al.Transplantation|February 28, 2003
Pediatric renal transplantation with mycophenolate mofetil-based immunosuppression without induction: results after three yearsTherese Jungraithmayr, Astrid Staskewitz, Günter Kirste, et al.Pageof 25