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 (91)
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
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size (2019)
Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, De Crescenzo A, Kotzaeridou U, et al.
Conference contribution
Fruits of Genomic Match-making: De Novo Variants in PRR12 are Associated with a Spectrum of Eye and Neurodevelopmental Anomalies (2019)
Balci TB, Wang L, Lalani S, Heide S, Keren B, Mignot C, Morley G, et al.
Conference contribution
Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly (2019)
Boonsawat P, Joset P, Steindl K, Oneda B, Gogoll L, Azzarello-Burri S, Sheth F, et al.
Journal article