Eli and Edythe L. Broad Institute of MIT and Harvard

Research facility


Location: Cambridge, MA, United States (USA) (US) US

ISNI: 000000405461623


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Types of publications

Journal article
Book chapter / Article in edited volumes
Authored book
Translation
Thesis
Edited Volume
Conference contribution
Other publication type
Unpublished / Preprint

Publication year

From
To

Abstract

Journal

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, VanCoillie 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 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 The neutrotime transcriptional signature defines a single continuum of neutrophils across biological compartments (2021) Grieshaber-Bouyer R, Radtke FA, Cunin P, Stifano G, Levescot A, Nelson-Maney N, Blaustein RB, et al. Journal article A field guide to cultivating computational biology (2021) Way GP, Greene CS, Carninci P, Carvalho BS, De Hoon M, Finley S, Gosline SJC, et al. Journal article, Review article