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)
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
Phenotype of the first patient harboring a de novo in-frame deletion in the LisH (LIS1 homology) domain of the WDR26 gene (2019)
Steindl K, Kraemer D, Gogoll L, Zanoni P, Sticht H, Rauch A
Conference contribution
Exploring the phenotypical spectrum of BRD4 defects (2019)
Hauer N, Vogl C, Popp B, Buettner C, Uebe S, Sticht H, Ekici AB, et al.
Conference contribution
Whole-exome sequencing identifies novel causative variants and expands the phenotypic spectrum of PLK4-related primary microcephaly (2019)
Boonsawat P, Asadollahi R, Niedrist D, Joset P, Wisser J, Budka H, Bode PK, et al.
Conference contribution
De novo missense variants in RHOBTB2 cause a developmental and epileptic encephalopathy in humans, and altered levels cause neurological defects in Drosophila (2019)
Straub J, Konrad E, Grüner J, Toutain A, Bok LA, Cho MT, Crawford HP, et al.
Conference contribution