European Journal of Human Genetics
Journal Abbreviation: EUR J HUM GENET
ISSN: 1018-4813
eISSN: 1476-5438
Publisher: Nature Publishing Group: Open Access Hybrid Model Option B
Publications (83)
Identification of the deregulated NEK1 protein network in skeletal ciliopathies (2020)
Vogl C, Keßler K, Gießl A, Kirchner P, Büttner C, Ekici AB, Reis A, Thiel CT
Conference contribution
Detection rate and re-analysis of exome sequencing data in a cohort of 207 individuals with neurodevelopmental disorders (2020)
Hebebrand M, Thiel CT, Kraus C, Ekici AB, Reis A, Zweier C
Conference contribution
Unexpected phenotypic variability in a family with epilepsy explained by independent segregation of biparental CACNA1A loss-of-function variants (2020)
Kraus C, Mammadova D, Leis T, Ekici AB, Thiel C, Reis A, Trollmann R
Conference contribution
Deletion 7q31.2q31.31 segregating in a family with speech and language deficiencies (2020)
Rieger M, Krumbiegel M, Reuter M, Schützenberger A, Reis A, Zweier C
Conference contribution
A case of autosomal recessive spinocerebellar ataxia type 18 with a novel mutation in GRID2 (2020)
Hetzelt K, Kraus C, Kusnik S, Thiel C, Ekici AB, Reis A, Zweier C
Conference contribution
CTCF variants in 31 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum (2019)
Konrad E, Nardini N, Blyth M, Prescott K, Bouman AM, Brilstra EH, Caliebe A, et al.
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
Spatially clustering de novo variants in CYFIP2, encoding the cytoplasmic FMRP interacting protein 2, cause intellectual disability and seizures (2019)
Zweier M, Begemann A, Mcwalter K, Cho MT, Abela L, Banka S, Behring B, et al.
Conference contribution
De novo variants in MAPK8IP3 cause intellectual disability with variable brain anomalies (2019)
Platzer K, Sticht H, Edwards SL, Allen W, Angione KM, Bonati MT, Brasington C, et al.
Conference contribution
Delineation of the clinical phenotype caused by de novo CLTC variants (2019)
Sa MJN, Venselaar H, Wiel L, Trimouille A, Lasseaux E, Naudion S, Lacombe D, et al.
Conference contribution