National Human Genome Research Institute (NHGRI)

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice (2023) Sheppard SE, Bryant L, Wickramasekara RN, Vaccaro C, Robertson B, Hallgren J, Hulen J, et al. Journal article Identification of Two Genetic Loci Associated with Leukopenia after Chemotherapy in Patients with Breast Cancer (2022) Fasching P, Liu D, Scully S, Ingle JN, Lyra PC, Rack B, Hein A, et al. Journal article Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis (2022) Nießl C, Boulesteix AL, Oh J, Palm K, Schlingmann P, Wygoda S, Haffner D, et al. Journal article Heterozygous variants in MYH10 associated with neurodevelopmental disorders and congenital anomalies with evidence for primary cilia-dependent defects in Hedgehog signaling (2022) Holtz AM, Vancoil R, Vansickle EA, Carere DA, Withrow K, Torti E, Juusola J, et al. Journal article Meta-analyses identify DNA methylation associated with kidney function and damage (2021) Schlosser P, Tin A, Matias-Garcia PR, Thio CHL, Joehanes R, Liu H, Weihs A, et al. Journal article Epigenome-wide association study of serum urate reveals insights into urate co-regulation and the SLC2A9 locus (2021) Tin A, Schlosser P, Matias-Garcia PR, Thio CHL, Joehanes R, Liu H, Yu Z, et al. Journal article BACH2 enforces the transcriptional and epigenetic programs of stem-like CD8+ T cells (2021) Yao C, Lou G, Sun HW, Zhu Z, Sun Y, Chen Z, Chauss D, et al. Journal article Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot (2021) Škorić-Milosavljević D, Lahrouchi N, Bosada FM, Dombrowsky G, Williams SG, Lesurf R, Tjong FV, et al. Journal article miR-155 harnesses Phf19 to potentiate cancer immunotherapy through epigenetic reprogramming of CD8+ T cell fate (2019) Ji Y, Fioravanti J, Zhu W, Wang H, Wu T, Hui J, Lacey NE, et al. Journal article Assessing predictions of the impact of variants on splicing in CAGI5 (2019) Mount SM, Avsec Z, Carmel L, Casadio R, Celik MH, Chen K, Cheng J, et al. Journal article