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American Journal of Human Genetics|November 27, 2012
Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIATobias B Haack, Penelope Hogarth, Michael C Kruer, et al.
Nature Metabolism|July 23, 2020
Functional identity of hypothalamic melanocortin neurons depends on Tbx3Carmelo Quarta, Alexandre Fisette, Yanjun Xu, et al.
Lancet (London, England)|October 2, 2012
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing studyAnita Rauch, Dagmar Wieczorek, Elisabeth Graf, et al.
Cell Metabolism|September 26, 2017
Molecular Integration of Incretin and Glucocorticoid Action Reverses Immunometabolic Dysfunction and ObesityCarmelo Quarta, Christoffer Clemmensen, Zhimeng Zhu, et al.
American Journal of Human Genetics|November 8, 2018
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal NeuropathyKatharina Danhauser, Bader Alhaddad, Christine Makowski, et al.
Annals of Neurology|February 2, 2026
Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia CohortAlice Saparov, Ivana Dzinovic, Theresa Brunet, et al.
Nature Neuroscience|March 25, 2015
Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementiaAxel Freischmidt, Thomas Wieland, Benjamin Richter, et al.
American Journal of Human Genetics|December 1, 2014
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndromeDagmar Wieczorek, William G Newman, Thomas Wieland, et al.
Nature|November 12, 2013
Dysfunctional nitric oxide signalling increases risk of myocardial infarctionJeanette Erdmann, Klaus Stark, Ulrike B Esslinger, et al.
Human Genetics|October 20, 2014
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrumAlma Kuechler, Marjolein H Willemsen, Beate Albrecht, et al.
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