Anne Kosfeld

FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study

Alma Osmanovic, I Rangnau, Anne Kosfeld et al. · European Journal of Human Genetics · 2017 · 62 citations

Life Sciences, Neurology, Neuroscience +17

Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations

Anne Kosfeld, Frank Brand, Anna‐Carina Weiss et al. · Human Molecular Genetics · 2017 · 51 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT)

Anne Kosfeld, Martin Kreuzer, Christoph Daniel et al. · Human Genetics · 2015 · 39 citations

Medicine, Genetics, Molecular Genetics +15

Characterization of the Interaction Between the Small Regulatory Peptide SgrT and the EIICBGlc of the Glucose-Phosphotransferase System of E. coli K-12

Anne Kosfeld, Knut Jahreis · Metabolites · 2012 · 28 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +13

Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis

Carl Friedrich Classen, Vera Riehmer, Christina Landwehr et al. · Human Genetics · 2013 · 24 citations

Life Sciences, Genetics, Molecular Genetics +16