Most Recent Articles: Human Genomicshttps://humgenomics.biomedcentral.comMost Recent Articles: Human GenomicsA genome-wide association study of neutrophil count in individuals associated to an African continental ancestry group facilitates studies of malaria pathogenesishttps://humgenomics.biomedcentral.com/articles/10.1186/s40246-024-00585-w'Benign ethnic neutropenia' (BEN) is a heritable condition characterized by lower neutrophil counts, predominantly observed in individuals of African ancestry, and the genetic basis of BEN remains a subject of...ResearchFri, 15 Mar 2024 00:00:00 GMThttps://humgenomics.biomedcentral.com/articles/10.1186/s40246-024-00585-wAndrei-Emil Constantinescu, David A. Hughes, Caroline J. Bull, Kathryn Fleming, Ruth E. Mitchell, Jie Zheng, Siddhartha Kar, Nicholas J. Timpson, Borko Amulic and Emma E. Vincent2024-03-15T00:00:00ZStatistical methods for assessing the effects of de novo variants on birth defectshttps://humgenomics.biomedcentral.com/articles/10.1186/s40246-024-00590-zWith the development of next-generation sequencing technology, de novo variants (DNVs) with deleterious effects can be identified and investigated for their effects on birth defects such as congenital heart disea...ReviewThu, 14 Mar 2024 00:00:00 GMThttps://humgenomics.biomedcentral.com/articles/10.1186/s40246-024-00590-zYuhan Xie, Ruoxuan Wu, Hongyu Li, Weilai Dong, Geyu Zhou and Hongyu Zhao2024-03-14T00:00:00ZCellular and clinical impact of protein phosphatase enzyme epigenetic silencing in multiple cancer tissueshttps://humgenomics.biomedcentral.com/articles/10.1186/s40246-024-00592-xProtein Phosphatase Enzymes (PPE) and protein kinases simultaneously control phosphorylation mechanisms that tightly regulate intracellular signalling pathways and stimulate cellular responses. In human malign...ResearchTue, 12 Mar 2024 00:00:00 GMThttps://humgenomics.biomedcentral.com/articles/10.1186/s40246-024-00592-xEdward Wiltshire, Manuel Castro de Moura, David Piñeyro and Ricky S. Joshi2024-03-12T00:00:00ZZebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndromehttps://humgenomics.biomedcentral.com/articles/10.1186/s40246-024-00593-wRare genetic disorders causing specific congenital developmental abnormalities often manifest in single families. Investigation of disease-causing molecular features are most times lacking, although these inve...ResearchWed, 06 Mar 2024 00:00:00 GMThttps://humgenomics.biomedcentral.com/articles/10.1186/s40246-024-00593-wAsuman Koparir, Caroline Lekszas, Kemal Keseroglu, Thalia Rose, Lena Rappl, Aboulfazl Rad, Reza Maroofian, Nakul Narendran, Atefeh Hasanzadeh, Ehsan Ghayoor Karimiani, Felix Boschann, Uwe Kornak, Eva Klopocki, Ertuğrul M. Özbudak, Barbara Vona, Thomas Haaf…2024-03-06T00:00:00ZMutations in TSPAN12 gene causing familial exudative vitreoretinopathyhttps://humgenomics.biomedcentral.com/articles/10.1186/s40246-024-00589-6To report newly found TSPAN12 mutations with a unique form of familial exudative vitreoretinopathy (FEVR) and find out the possible mechanism of a repeated novel intronic variant in TSPAN12 led to FEVR.ResearchFri, 01 Mar 2024 00:00:00 GMThttps://humgenomics.biomedcentral.com/articles/10.1186/s40246-024-00589-6Yuqiao Ju, Tianhui Chen, Lu Ruan, Ye Zhao, Qing Chang and Xin Huang2024-03-01T00:00:00Z