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Plos One|July 29, 2016
Meta-Analysis of Genome-Wide Association Studies and Network Analysis-Based Integration with Gene Expression Data Identify New Suggestive Loci and Unravel a Wnt-Centric Network Associated with Dupuytren's DiseaseKerstin Becker, Sabine Siegert, Mohammad Reza Toliat, et al.
Annals of Neurology|June 2, 2005
Genetic dissection of photosensitivity and its relation to idiopathic generalized epilepsyUlrike Tauer, Susanne Lorenz, Kirsten P Lenzen, et al.
JAMA Neurology|May 24, 2013
A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotypingBeenish Arif, Kishore R Kumar, Philip Seibler, et al.
Experimental Neurology|May 28, 2019
Homozygous NMNAT2 mutation in sisters with polyneuropathy and erythromelalgiaPeter Huppke, Eike Wegener, Jonathan Gilley, et al.
American Journal of Human Genetics|April 24, 2012
A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal functionMuhammad Sajid Hussain, Shahid Mahmood Baig, Sascha Neumann, et al.
Nature Communications|December 10, 2015
Cold-aggravated pain in humans caused by a hyperactive NaV1.9 channel mutantEnrico Leipold, Andrea Hanson-Kahn, Miya Frick, et al.
American Journal of Human Genetics|September 9, 2017
A Genome-wide Association Study of Dupuytren Disease Reveals 17 Additional Variants Implicated in FibrosisMichael Ng, Dipti Thakkar, Lorraine Southam, et al.
BMC Genomics|August 17, 2013
Transcriptional profiling reveals progeroid Ercc1(-/Δ) mice as a model system for glomerular agingBernhard Schermer, Valerie Bartels, Peter Frommolt, et al.
Bioinformatics (Oxford, England)|May 16, 2019
Variant Score Ranker-a web application for intuitive missense variant prioritizationJuanjiangmeng Du, Monica Sudarsanam, Eduardo Pérez-Palma, et al.
American Journal of Medical Genetics. Part A|April 9, 2009
Compound heterozygous ASPM mutations in Pakistani MCPH familiesFarooq Muhammad, Shahid Mahmood Baig, Lars Hansen, et al.
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