Human genetics
Journal Abbreviation: HUM GENET
ISSN: 0340-6717
eISSN: 1432-1203
Publisher: Springer Verlag (Germany)
Publications (14)
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly (2024)
Herbst C, Bothe V, Wegler M, Axer-Schaefer S, Audebert-Bellanger S, Gecz J, Cogne B, et al.
Journal article
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals (2023)
Schmetz A, Lüdecke HJ, Surowy H, Sivalingam S, Bruel AL, Caumes R, Charles P, et al.
Journal article
Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus. (2021)
Kho PF, Mortlock S, Rogers PAW, Nyholt DR, Montgomery GW, Spurdle AB, Glubb DM, O'Mara TA
Journal article
Genome sequencing in families with congenital limb malformations (2021)
Elsner J, Mensah MA, Holtgrewe M, Hertzberg J, Bigoni S, Busche A, Coutelier M, et al.
Journal article
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis (2019)
Amar A, Majmundar AJ, Ullah I, Afzal A, Braun DA, Shril S, Daga A, et al.
Journal article
Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association Consortium (2016)
Lei J, Rudolph A, Moysich KB, Behrens S, Goode EL, Bolla MK, Dennis J, et al.
Journal article
Assessing the genetic architecture of epithelial ovarian cancer histological subtypes (2016)
Cuellar-Partida G, Lu Y, Dixon SC, Fasching PA, Hein A, Burghaus S, Beckmann M, et al.
Journal article
Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT) (2016)
Kosfeld A, Kreuzer M, Daniel C, Brand F, Schaefer AK, Chadt A, Weiss AC, et al.
Journal article
Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk (2015)
Carvajal-Carmona LG, O'Mara TA, Painter JN, Lose FA, Dennis J, Michailidou K, Tyrer JP, et al.
Journal article
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum (2015)
Kuechler A, Willemsen MH, Albrecht B, Bacino CA, Bartholomew DW, Van Bokhoven H, Van Den Boogaard MJH, et al.
Journal article