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 (80)
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
Genetic Interaction screen for severe neurodevelopmental disorders reveals a functional link between Ube3a and Mef2 in Drosophila melanogaster (2019)
Straub J, Sauerer T, Fliedner A, Distel L, Suchy C, Ekici AB, Ferrazzi F, et al.
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
Mutations in the BAF-complex subunit DPF2 are associated with Coffin-Siris syndrome (2019)
Vasileiou G, Vergarajauregui S, Endele S, Popp B, Büttner C, Ekici AB, Gerard M, et al.
Conference contribution
Identification of novel candidate genes for idiopathic short stature using whole exome sequencing (2019)
Thiel C, Hauer N, Vogl C, Ahmadian R, Dhandapany PS, Popp B, Buettner C, et al.
Conference contribution
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and high-resolution copy number study (2019)
Papuc S, Abela L, Steindl K, Begemann A, Simmons T, Schmitt B, Zweier M, et al.
Conference contribution