Eli and Edythe L. Broad Institute of MIT and Harvard

Temporal change of DNA methylation subclasses between matched newly diagnosed and recurrent glioblastoma (2024) Drexler R, Khatri R, Schüller U, Eckhardt A, Ryba A, Sauvigny T, Dührsen L, et al. Journal article Metrics reloaded: recommendations for image analysis validation (2024) Maier-Hein L, Reinke A, Godau P, Tizabi MD, Buettner F, Christodoulou E, Glocker B, et al. Journal article LHX2 haploinsufficiency causes a variable neurodevelopmental disorder (2023) Schmid CM, Gregor A, Costain G, Morel CF, Massingham L, Schwab J, Quélin C, et al. Journal article A polygenic score for reduced kidney function and adverse outcomes in a cohort with chronic kidney disease (2023) Steinbrenner I, Yu Z, Jin J, Schultheiss UT, Kotsis F, Grams ME, Coresh J, et al. Journal article Clinical Features, Neuropathology, and Surgical Outcome in Patients with Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene (2023) Barba C, Blümcke I, Winawer MR, Hartlieb T, Kang HC, Grisotto L, Chipaux M, et al. Journal article The genomic landscape across 474 surgically accessible epileptogenic human brain lesions (2022) A López-Rivera J, Leu C, Macnee M, Khoury J, Hoffmann L, Coras R, Kobow K, et al. Journal article, Original article A POLYGENIC RISK SCORE FOR REDUCED EGFR IS ASSOCIATED WITH ADVERSE EVENTS IN A CHRONIC KIDNEY DISEASE COHORT - THE GERMAN CHRONIC KIDNEY DISEASE STUDY (2022) Steinbrenner I, Yu Z, Jin J, Schultheiss UT, Kotsis FK, Grams M, Coresh J, et al. Conference contribution 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 Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort (2022) van der Sluijs PJ, Joosten M, Alby C, Attié-Bitach T, Gilmore K, Dubourg C, Fradin M, et al. Journal article De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability (2021) Schalk A, Cousin MA, Challman TD, Wain KE, Powis Z, Minks K, Trimouille A, et al. Journal article