Institute of Human Genetics

QRICH1 variants in Ververi-Brady syndrome-delineation of the genotypic and phenotypic spectrum (2020) Foehrenbach M, Jamra RA, Borkhardt A, Brozou T, Muschke P, Popp B, Rey LK, et al. Journal article Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease (2020) Vergnano M, Mockenhaupt M, Benzian-Olsson N, Paulmann M, Grys K, Mahil SK, Chaloner C, et al. Journal article Choline transporter-like 1 deficiency causes a new type of childhood-onset neurodegeneration (2020) Fagerberg CR, Taylor A, Distelmaier F, Schrøder HD, Kibæk M, Wieczorek D, Tarnopolsky M, et al. Journal article Advanced in early- and adult-onset glaucoma genetics (2019) Pasutto F Conference contribution Delineating the clinical spectrum due to heterozygous TRAF7 missense mutations: A series of 38 cases (2019) Amiel J, Mishra K, Castilla L, Selmer KK, Barak T, Yang S, Blanco-Sanchez B, et al. Conference contribution Proteome-wide analysis of chaperone-mediated autophagy targeting motifs (2019) Kirchner P, Bourdenx M, Madrigal-Matute J, Tiano S, Diaz A, Bartholdy BA, Will B, Cuervo AM Journal article PEDIA: prioritization of exome data by image analysis (2019) Hsieh TC, Mensah MA, Pantel JT, Aguilar D, Bar O, Bayat A, Becerra-Solano L, et al. Journal article Functional analyses of Pericentrin and Syne-2 interaction in ciliogenesis (2018) Falk N, Keßler K, Schramm SF, Boldt K, Becirovic E, Michalakis S, Regus-Leidig H, et al. Journal article The role of genetic variation of human metabolism for BMI, mental traits and mental disorders (2018) Hebebrand J, Peters T, Schijven D, Hebebrand M, Grasemann C, Winkler TW, Heid IM, et al. Journal article Loss of Function of GALNT2 Lowers High-Density Lipoproteins in Humans, Nonhuman Primates, and Rodents (2016) Khetarpal SA, Schjoldager KT, Christoffersen C, Raghavan A, Edmondson AC, Reutter HM, Ahmed B, et al. Journal article