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Nature Communications|October 12, 2017
Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorderPeter Huppke, Susann Weissbach, Joseph A Church, et al.
Journal of Neurology|November 9, 2013
Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutationSarah Doss, Katja Lohmann, Philip Seibler, et al.
Genes|January 21, 2023
Whole-Exome Sequencing of Pakistani Consanguineous Families Identified Pathogenic Variants in Genes of Intellectual DisabilityMaria Asif, Maryam Anayat, Faiza Tariq, et al.
Circulation. Cardiovascular Genetics|December 18, 2009
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancyFrank Rutsch, Petra Böyer, Yvonne Nitschke, et al.
Human Mutation|July 3, 2010
Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotypeVéronique Dutrannoy, Ilja Demuth, Ulrich Baumann, et al.
Plos One|July 14, 2011
Pipeline for large-scale microdroplet bisulfite PCR-based sequencing allows the tracking of hepitype evolution in tumorsAlexander Herrmann, Andrea Haake, Ole Ammerpohl, et al.
American Journal of Human Genetics|December 1, 2009
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defectsNiki Tomas Loges, Heike Olbrich, Anita Becker-Heck, et al.
Plos One|December 27, 2007
Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain geneBirgit S Budde, Priska Binner, Stephan Waldmüller, et al.
Brain Communications|March 13, 2026
<i>CACNB3</i> defects are associated with infantile idiopathic nystagmusChristoph Jüschke, Kira Linsel, Marta Owczarek-Lipska, et al.
Clinical Genetics|December 28, 2022
Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domainLuisa Averdunk, Khalid Al-Thihli, Harald Surowy, et al.
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