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American Journal of Human Genetics|December 30, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorderEric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.Medrxiv : the Preprint Server for Health Sciences|April 16, 2025
De novo variants in KDM2A cause a syndromic neurodevelopmental disorderEric N Anderson, Stephan Drukewitz, Sukhleen Kour, et al.American Journal of Human Genetics|January 8, 2021
A dyadic approach to the delineation of diagnostic entities in clinical genomicsLeslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, et al.Global Health Action|July 18, 2025
Advancing knowledge, maps and tools to address obesity and related socio-economic disparities in Europe: the OBCT projectThao Minh Lam, Julie Aarestrup, Erica L T van den Akker, et al.American Journal of Human Genetics|September 21, 2022
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndromeSanaa Choufani, Vanda McNiven, Cheryl Cytrynbaum, et al.Cell Host & Microbe|August 30, 2024
Bacteroides ovatus alleviates dysbiotic microbiota-induced graft-versus-host diseaseEiko Hayase, Tomo Hayase, Akash Mukherjee, et al.Science Translational Medicine|November 16, 2022
Diet-derived metabolites and mucus link the gut microbiome to fever after cytotoxic cancer treatmentZaker I Schwabkey, Diana H Wiesnoski, Chia-Chi Chang, et al.Medrxiv : the Preprint Server for Health Sciences|July 3, 2023
Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorderPatrick R Blackburn, Frédéric Ebstein, Tzung-Chien Hsieh, et al.American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons|June 9, 2016
2016 Comprehensive Update of the Banff Working Group on Liver Allograft Pathology: Introduction of Antibody-Mediated RejectionA J Demetris, C Bellamy, S G Hübscher, et al.Human Molecular Genetics|November 20, 2018
Genomic analyses in African populations identify novel risk loci for cleft palateAzeez Butali, Peter A Mossey, Wasiu L Adeyemo, et al.Pageof 263