Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability (2025) Sabeh P, Dumas SA, Maios C, Daghar H, Korzeniowski M, Rousseau J, Lines M, et al. Journal article Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants (2024) Qiao L, Welch CL, Hernan R, Wynn J, Krishnan US, Zalieckas JM, Buchmiller T, et al. Journal article MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway (2024) Gong M, Li J, Qin Z, Machado Bressan Wilke MV, Liu Y, Li Q, Liu H, et al. Journal article Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome (2024) Rots D, Bouman A, Yamada A, Levy M, Dingemans AJ, de Vries BB, Ruiterkamp-Versteeg M, et al. Journal article Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect (2024) Yang F, Begemann A, Reichhart N, Haeckel A, Steindl K, Schellenberger E, Sturm RF, et al. Journal article A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3 (2024) Paul MS, Michener SL, Pan H, Chan H, Pfliger JM, Rosenfeld JA, Lerma VC, et al. Journal article Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling (2024) Boonsawat P, Asadollahi R, Niedrist D, Steindl K, Begemann A, Joset P, Bhoj EJ, et al. Journal article Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset (2024) Davidson AL, Michailidou K, Parsons MT, Fortuno C, Bolla MK, Wang Q, Dennis J, et al. Journal article Integrative multi-omics analyses to identify the genetic and functional mechanisms underlying ovarian cancer risk regions (2024) Dareng EO, Coetzee SG, Tyrer JP, Peng PC, Rosenow W, Chen S, Davis BD, et al. Journal article Targeted long-read sequencing of the Ewing sarcoma 6p25.1 susceptibility locus identifies germline-somatic interactions with EWSR1-FLI1 binding (2023) Lee OW, Rodrigues C, Lin SH, Luo W, Jones K, Brown DW, Zhou W, et al. Journal article