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)

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Abstract

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
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