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Plos Genetics|November 7, 2023
Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signalingRonit Marom, Bo Zhang, Megan E Washington, et al.
JAMA Cardiology|February 1, 2023
Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart DiseaseJacqueline S Dron, Aniruddh P Patel, Yiyi Zhang, et al.
Nature Communications|September 12, 2022
Clonal hematopoiesis of indeterminate potential, DNA methylation, and risk for coronary artery diseaseM D Mesbah Uddin, Ngoc Quynh H Nguyen, Bing Yu, et al.
Communications Biology|February 4, 2021
DNA methylation patterns identify subgroups of pancreatic neuroendocrine tumors with clinical associationVanessa Lakis, Rita T Lawlor, Felicity Newell, et al.
Arxiv|January 7, 2025
GREGoR: Accelerating Genomics for Rare DiseasesMoez Dawood, Ben Heavner, Marsha M Wheeler, et al.
Genome Medicine|May 19, 2019
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome casesAvinash V Dharmadhikari, Rajarshi Ghosh, Bo Yuan, et al.
The Journal of Clinical Investigation|January 10, 2015
Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypesBo Yuan, Davut Pehlivan, Ender Karaca, et al.
Scientific Reports|February 6, 2015
Targeted sequencing in chromosome 17q linkage region identifies familial glioma candidates in the Gliogene ConsortiumAli Jalali, E Susan Amirian, Matthew N Bainbridge, et al.
Genome Medicine|September 24, 2017
Creating a data resource: what will it take to build a medical information commons?Patricia A Deverka, Mary A Majumder, Angela G Villanueva, et al.
American Journal of Human Genetics|December 7, 2015
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin SyndromeLindsay C Burrage, Wu-Lin Charng, Mohammad K Eldomery, et al.
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