Human Genetics and Genomics Advances
ISSN: 2666-2477
Publisher: Cell Press
Publications (4)
Biologically targeted discovery-replication scan identifies G×G interaction in relation to risk of Barrett's esophagus and esophageal adenocarcinoma (2025)
Yan L, He Q, Verma SP, Zhang X, Giel AS, Maj C, Graz K, et al.
Journal article
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants (2024)
van der Laan L, Lauffer P, Rooney K, Silva A, Haghshenas S, Relator R, Levy MA, et al.
Journal article
Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function. (2024)
Carpentieri G, Cecchetti S, Bocchinfuso G, Radio FC, Leoni C, Onesimo R, Calligari P, et al.
Journal article
First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B (2022)
Gehlen J, Giel AS, Köllges R, Haas SL, Zhang R, Trcka J, Sungur A, et al.
Journal article