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Orphanet Journal of Rare Diseases|April 19, 2015
Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndromeJessica S Albert, Nisan Bhattacharyya, Lynne A Wolfe, et al.
Human Mutation|August 8, 2015
PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseasesOrion J Buske, Marta Girdea, Sergiu Dumitriu, et al.
Nature Communications|June 14, 2022
Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disordersXinyuan Zhang, Anastasia M Lucas, Yogasudha Veturi, et al.
Frontiers in Genetics|February 21, 2022
Multi-Trait Genome-Wide Association Study of Atherosclerosis Detects Novel Pleiotropic LociTiffany R Bellomo, William P Bone, Brian Y Chen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 13, 2015
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiencyWilliam P Bone, Nicole L Washington, Orion J Buske, et al.
Nature Communications|November 7, 2020
Publisher Correction: Regulation of cellular sterol homeostasis by the oxygen responsive noncoding RNA lincNORSXue Wu, Cristina M Niculite, Mihai Bogdan Preda, et al.
Nature Communications|September 22, 2020
Regulation of cellular sterol homeostasis by the oxygen responsive noncoding RNA lincNORSXue Wu, Cristina M Niculite, Mihai Bogdan Preda, et al.
Nature Communications|November 14, 2022
Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failureMichael G Levin, Noah L Tsao, Pankhuri Singhal, et al.
Frontiers in Medicine|June 13, 2017
Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program ExperienceTimothy Gall, Elise Valkanas, Christofer Bello, et al.
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