Human Genetics and Genomics Advances

ISSN: 2666-2477
Publisher: Cell Press

Publications (7)

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Journal article
Unpublished / Preprint

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Abstract

Expanding the ABCA2-associated neurodevelopmental phenotype (2026) Oja KT, Reinson K, Ilisson M, Örd D, Wojcik MH, Seaby EG, Wittmann BM, et al. Journal article Proteasomal activation ameliorates neuronal phenotypes linked to FBXO11-deficiency (2025) Gregor A, Distel L, Ekici AB, Kirchner P, Uebe S, Krumbiegel M, Turan S, et al. Journal article 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 Pleiotropy-guided transcriptome imputation from normal and tumor tissues identifies candidate susceptibility genes for breast and ovarian cancer (2021) Kar SP, Considine DP, Tyrer JP, Plummer JT, Chen S, Dezem FS, Barbeira AN, et al. Journal article