-
Genome sequencing in families with congenital limb malformations2021 Human Genetics article Biochemistry, Genetics and Molecular Biology Congenital limb and hand anomalies Open access
Jonas Elsner, Martin A. Mensah, Manuel Holtgrewe, Jakob Hertzberg, Stefania Bigoni, Marie Coutelier, +24 more
26citations -
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals2023 Human Genetics article Biochemistry, Genetics and Molecular Biology Chromatin Remodeling and Cancer Open access
Ariane Schmetz, Hermann‐Josef Lüdecke, Harald Surowy, Sugirthan Sivalingam, Ange‐Line Bruel, Roseline Caumes, +44 more
26citations -
Large-scale pedigree analysis highlights rapidly mutating Y-chromosomal short tandem repeats for differentiating patrilineal relatives and predicting their degrees of consanguinity2022 Human Genetics article Biochemistry, Genetics and Molecular Biology Forensic and Genetic Research Open access
Arwin Ralf, Diego Montiel González, Dion Zandstra, Bram van Wersch, Nefeli Kousouri, Peter de Knijff, +4 more
23citations -
The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes2024 Human Genetics article Biochemistry, Genetics and Molecular Biology Epigenetics and DNA Methylation Open access
Niels Vos, Sadegheh Haghshenas, Liselot van der Laan, Perle K. M. Russel, Kathleen Rooney, Michael A. Levy, +53 more
12citations -
Identification of novel genetic variants associated with short stature in a Baka Pygmies population2020 Human Genetics article Biochemistry, Genetics and Molecular Biology Genetic Associations and Epidemiology Open access
Matteo Zoccolillo, Claudia Moia, Sergio Comincini, Davide Cittaro, Dejan Lazarević, Karen A. Pisani, +2 more
11citations -
A comprehensive and accessible model for co-segregation analysis in BRCA1, BRCA2, and PALB2 variant classification2026 Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Setareh Moghadasi, Ramin Monajemi, Merel E. Braspenning, Maaike P.G. Vreeswijk, Mar D M Rodríguez-Girondo
0citations -
Expected costs and benefits of genetic counselling and germline genetic testing in metastatic prostate cancer2026 Human Genetics article Biochemistry, Genetics and Molecular Biology BRCA gene mutations in cancer Open access
Michiel Vlaming, Lambertus A.L.M. Kiemeney, Wouter Koole, Inge M. van Oort, Eveline M. A. Bleiker, Margreet G.E.M. Ausems, +1 more
0citations
11 results