Author details

Full Name

William P Bone

Affiliation

University of Pennsylvania - Perelman School of Medicine

ORCID

Career Start Year

2015

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37165871	Evaluating the Contribution of Cell Type-Specific Alternative Splicing to Variation in Lipid Levels.	Circ Genom Precis Med	2023
35186008	Multi-Trait Genome-Wide Association Study of Atherosclerosis Detects Novel Pleiotropic Loci.	Front Genet	2022
35701404	Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders.	Nat Commun	2022
35894642	ColocQuiaL: a QTL-GWAS colocalization pipeline.	Bioinformatics	2022
36376295	Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure.	Nat Commun	2022
35285134	Multi-phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations.	J Thromb Haemost	2022
32958772	Regulation of cellular sterol homeostasis by the oxygen responsive noncoding RNA lincNORS.	Nat Commun	2020
33159065	Publisher Correction: Regulation of cellular sterol homeostasis by the oxygen responsive noncoding RNA lincNORS.	Nat Commun	2020
30864329	Detecting potential pleiotropy across cardiovascular and neurological diseases using univariate, bivariate, and multivariate methods on 43,870 individuals from the eMERGE network.	Pac Symp Biocomput	2019
31659023	Natural human genetic variation determines basal and inducible expression of PM20D1, an obesity-associated gene.	Proc Natl Acad Sci U S A	2019
28603714	Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience.	Front Med (Lausanne)	2017
27568008	Explorations to improve the completeness of exome sequencing.	BMC Med Genomics	2016
28078312	Biallelic <i>SCN10A</i> mutations in neuromuscular disease and epileptic encephalopathy.	Ann Clin Transl Neurol	2016
26562225	Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency.	Genet Med	2016
26668131	Disruption of Golgi morphology and altered protein glycosylation in PLA2G6-associated neurodegeneration.	J Med Genet	2016
27785453	Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience.	Front Med (Lausanne)	2016
25577287	York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.	Mol Genet Metab	2015
25888122	Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.	Orphanet J Rare Dis	2015
25845469	MED23-associated intellectual disability in a non-consanguineous family.	Am J Med Genet A	2015
26562621	Next-generation diagnostics and disease-gene discovery with the Exomiser.	Nat Protoc	2015
26251998	PhenomeCentral: a portal for phenotypic and genotypic matchmaking of patients with rare genetic diseases.	Hum Mutat	2015

1 - 21 of 21

Binglan Li

Stanford University

Career Start Year 2018

Number of shared co-authors 7

Goo Jun

University of Texas Health Science Center at Houston

Career Start Year 2012

Number of shared co-authors 4

Konrad J Karczewski

Broad Institute of MIT and Harvard

Career Start Year 2010

Number of shared co-authors 10

Eric R Gamazon

Vanderbilt University Medical Center

Career Start Year 2009

Number of shared co-authors 6

Sofie Ashford

University of Cambridge

Career Start Year 2008

Number of shared co-authors 5

John D Overton

Regeneron Pharmaceuticals

Career Start Year 2008

Number of shared co-authors 21

Manuel A Rivas

Stanford University School of Medicine

Career Start Year 2008

Number of shared co-authors 10

Yiran Guo

Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia

Career Start Year 2007

Number of shared co-authors 10

Christoph Preuss

Universite de Montreal

Career Start Year 2007

Number of shared co-authors 1

Elizabeth T Cirulli

Duke University

Career Start Year 2007

Number of shared co-authors 4

Daniel M Jordan

Icahn School of Medicine at Mount Sinai

Career Start Year 2007

Number of shared co-authors 5

Jennifer E Below

Vanderbilt Genetics Institute, Vanderbilt University Medical Center

Career Start Year 2007

Number of shared co-authors 23

William S Bush

Cleveland Institute for Computational Biology, Case Western Reserve University

Career Start Year 2006

Number of shared co-authors 18

Ali Torkamani

Scripps Science Institute

Career Start Year 2005

Number of shared co-authors 6

Beth Wilmot

Knight Cancer Institute, Oregon Health & Science University

Career Start Year 2004

Number of shared co-authors 4

Zolt??n Kutalik

University of Lausanne

Career Start Year 2004

Number of shared co-authors 16

Christian M Shaffer

Vanderbilt University

Career Start Year 2004

Number of shared co-authors 26

Stephen B Montgomery

Stanford University

Career Start Year 2003

Number of shared co-authors 14

Sek Won Kong

Boston Children's Hospital, Seoul National University, Seoul National University Hospital

Career Start Year 2003

Number of shared co-authors 2

Elisabeth A Rosenthal

University of Washington Medical Center

Career Start Year 2003

Number of shared co-authors 22

Stacey Gabriel

Broad Institute of MIT and Harvard

Career Start Year 2001

Number of shared co-authors 19

Kai Wang

University of Pennsylvania

Career Start Year 2001

Number of shared co-authors 19

Andrew D Johnson

and Blood Institute

Career Start Year 2001

Number of shared co-authors 27

Gon??alo R Abecasis

Regeneron Pharmaceuticals Inc.

Career Start Year 2000

Number of shared co-authors 32

Christian Gieger

German Research Center for Cardiovascular Disease (DZHK)

Career Start Year 1999

Number of shared co-authors 25

Nicole Soranzo

Wellcome Sanger Institute

Career Start Year 1998

Number of shared co-authors 19

Joshua D Smith

University of Washington

Career Start Year 1998

Number of shared co-authors 13

Eric E Schadt

Icahn School of Medicine at Mount Sinai

Career Start Year 1998

Number of shared co-authors 23

Mark J Daly

Massachusetts General Hospital

Career Start Year 1987

Number of shared co-authors 24

Albert V Smith

University of Michigan School of Public Health ann arbor

Career Start Year 1987

Number of shared co-authors 31

row(s) 1 - 30 of 30

William A Gahl

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 10

Cornelius F Boerkoel

University of British Columbia

Co-authored papers 8

Thomas C Markello

National Institutes of Health

Co-authored papers 6

David R Adams

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 6

Benjamin F Voight

Perelman School of Medicine, University of Pennsylvania

Co-authored papers 6

Melissa A Haendel

American Medical Informatics Association, Oregon Health and Science University, Oregon State University, University of Colorado Anschutz Medical Campus, University of North Carolina at Chapel Hill, University of Wisconsin-Madison

Co-authored papers 5

Marylyn D Ritchie

Center for Systems Genomics, Pennsylvania State University, University Park

Co-authored papers 5

Melissa A Haendel

Co-authored papers 5

Amanda E Links

National Institutes of Health

Co-authored papers 5

Camilo Toro

National Human Genome Research Institute, National Institutes of Health

Co-authored papers 4