Kaiser Permanente

Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci (2023) Han X, Gharahkhani P, Hamel AR, Ong JS, Rentería ME, Mehta P, Dong X, et al. Journal article Genome-wide and transcriptome-wide association studies of mammographic density phenotypes reveal novel loci (2022) Chen H, Fan S, Stone J, Thompson DJ, Douglas J, Li S, Scott C, et al. Journal article EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum (2022) Hüffmeier U, Kraus C, Reuter M, Uebe S, Abbott MA, Ahmed SA, Rawson KL, et al. Conference contribution Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders (2021) Mannucci I, Dang NDP, Huber H, Murry JB, Abramson J, Althoff T, Banka S, et al. Journal article Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders (2021) Gillentine MA, Wang T, Hoekzema K, Rosenfeld J, Liu P, Guo H, Kim CN, et al. Journal article Comprehensive Molecular Profiling of Sinonasal Teratocarcinosarcoma Identifies Recurrent SMARCA4 and Wnt/beta-catenin Pathway Mutations (2021) Rooper L, Din NU, Gagan J, Thompson L, Agaimy A, Bishop J Conference contribution DLG4-related synaptopathy: a new rare brain disorder (2021) Rodriguez-Palmero A, Boerrigter MM, Gomez-Andres D, Aldinger KA, Marcos-Alcalde I, Popp B, Everman DB, et al. Journal article SCAF4 loss of function in humans and Drosophila implicates mRNA transcriptional termination in neuro-developmental disorders (2020) Fliedner A, Kirchner P, Agre KE, De Graaf-Van De Laar I, Clarke MD, Davis-Keppen L, Ekici AB, et al. Conference contribution Sinonasal Undifferentiated Carcinoma (SNUC): From an Entity to Morphologic Pattern and Back Again-A Historical Perspective (2020) Agaimy A, Franchi A, Lund VJ, Skalova A, Bishop JA, Triantafyllou A, Andreasen S, et al. Journal article, Review article De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy (2020) Kloeckner C, Sticht H, Zacher P, Popp B, Babcock HE, Bakker DP, Barwick K, et al. Journal article