Atlas Biolabs (Germany)

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

Mathieu Lemaire, Véronique Frémeaux‐Bacchi, Franz Schaefer et al. · Nature Genetics · 2013 · 466 citations · Full text

Urology, Mendelian Disorder, Genetic Disorder +4

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

Enrico Leipold, Lutz Liebmann, Georg Christoph Korenke et al. · Nature Genetics · 2013 · 302 citations

Molecular Neuroscience, Genetics, Gain-of-function Mutation +7

Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency

Eirini Meimaridou, Julia Kowalczyk, Leonardo Guasti et al. · Nature Genetics · 2012 · 260 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +6

Nonsense Mutations in SMPX, Encoding a Protein Responsive to Physical Force, Result in X-Chromosomal Hearing Loss

Antje K. Huebner, Marta Gandía, Peter Frommolt et al. · The American Journal of Human Genetics · 2011 · 85 citations · Full text

Genome Instability, Protein Responsive, Genetic Disorder +9

Personalized risk prediction of postoperative cognitive impairment – rationale for the EU-funded BioCog project

Georg Winterer, Ganna Androsova, Olaf Bender et al. · European Psychiatry · 2018 · 79 citations · Full text

Elderly Patients, Neurochemical Biomarkers, Risk Analysis +26