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European Journal of Human Genetics : EJHG|October 14, 2025
Twenty years of genome-wide association studies: Health translation challenges and AI opportunitiesJie Huang, Gary R McLean, Andre Franke
European Journal of Human Genetics : EJHG|October 15, 2025
Variable response of germline activating PDGFRB variants to receptor tyrosine kinase inhibitors: implications for treatmentIleana Cristea, Roya Mehrasa, Titas Gladkauskas, et al.
European Journal of Human Genetics : EJHG|September 27, 2025
PKD1 5'UTR variants are a rare cause of disease in ADPKD and suggest a new focus for therapeutic developmentLaura Wedd, Yvonne Hort, Chirag Patel, et al.
European Journal of Human Genetics : EJHG|June 24, 2020
SKOR1 has a transcriptional regulatory role on genes involved in pathways related to restless legs syndromeFaezeh Sarayloo, Dan Spiegelman, Daniel Rochefort, et al.
European Journal of Human Genetics : EJHG|June 24, 2020
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging featuresMarcello Scala, Geok Lin Chua, Cheen Fei Chin, et al.
European Journal of Human Genetics : EJHG|September 15, 2021
Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SONAlexander J M Dingemans, Kim M G Truijen, Jung-Hyun Kim, et al.
European Journal of Human Genetics : EJHG|August 18, 2016
Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome)Glen R Monroe, Isabelle Fpm Kappen, Marijn F Stokman, et al.
European Journal of Human Genetics : EJHG|August 2, 2022
The experiences of UK-based genetic counsellors working in mainstream settingsEllie Quinn, Katherine Mazur
European Journal of Human Genetics : EJHG|September 24, 2025
Pharmacogenomics in drug therapy: global regulatory guidelines for managing high-risk drug reactionsSafa Omran, Siew Hua Gan, Siew Li Teoh
European Journal of Human Genetics : EJHG|August 20, 2025
MINDDS-connect: a federated data platform integrating biobanks for meta cohort building and analysisBenjamin Huremagic, Nishkala Sattanathan, Mathilde Geysens, et al.
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