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 (87)
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.
Conference contribution
Skeletal defects and defective osteoclast and osteoblast function in Ayme-Gripp syndrome (2019)
Niceta M, Del Fattore A, Barbuti D, Rossi M, Stellacci E, Gupta N, Ruggiero C, et al.
Conference contribution
Whole-exome sequencing and large-scale re-sequencing in nonsyndromic cleft lip with/without cleft palate identify novel susceptibility genes (2019)
Ishorst N, Henschel L, Thieme F, Drichel D, Sivalingam S, Mehrem SL, Fechtner AC, et al.
Conference contribution
Rare frameshift mutation in SERPINA3 contributes to generalized pustular psoriasis (2019)
Hüffmeier U, Sticht H, Wenzel J, Wilsmann-Theis D, Wolff K, Löhr S, Frey B, et al.
Conference contribution