Author details

Full Name

Leigh C Carmody

Affiliation

Center for the Science of Therapeutics, Broad Institute of MIT and Harvard

ORCID

Career Start Year

2002

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37684057	De novo <i>TRPM3</i> missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy.	Cold Spring Harb Mol Case Stud	2024
37953324	The Human Phenotype Ontology in 2024: phenotypes around the world.	Nucleic Acids Res	2024
37684057	De novo <i>TRPM3</i> missense variant associated with neurodevelopmental delay and manifestations of cerebral palsy.	Cold Spring Harb Mol Case Stud	2024
37953324	The Human Phenotype Ontology in 2024: phenotypes around the world.	Nucleic Acids Res	2024
36929917	An expectation-maximization framework for comprehensive prediction of isoform-specific functions.	Bioinformatics	2023
37963467	The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease.	Med	2023
37196000	Phenopacket-tools: Building and validating GA4GH Phenopackets.	PLoS One	2023
36929917	An expectation-maximization framework for comprehensive prediction of isoform-specific functions.	Bioinformatics	2023
37503136	The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease.	medRxiv	2023
37963467	The Medical Action Ontology: A tool for annotating and analyzing treatments and clinical management of human disease.	Med	2023
37503136	The Medical Action Ontology: A Tool for Annotating and Analyzing Treatments and Clinical Management of Human Disease.	medRxiv	2023
37196000	Phenopacket-tools: Building and validating GA4GH Phenopackets.	PLoS One	2023
35101336	Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).	Genet Med	2022
35872606	Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.	Am J Med Genet C Semin Med Genet	2022
36063163	Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).	Genet Med	2022
37324543	A community effort for COVID-19 Ontology Harmonization.	CEUR Workshop Proc	2022
35101336	Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).	Genet Med	2022
37324543	A community effort for COVID-19 Ontology Harmonization.	CEUR Workshop Proc	2022
35872606	Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.	Am J Med Genet C Semin Med Genet	2022
36063163	Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).	Genet Med	2022
33264411	The Human Phenotype Ontology in 2021.	Nucleic Acids Res	2021
33752678	Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome.	Orphanet J Rare Dis	2021
34289339	Interpretable prioritization of splice variants in diagnostic next-generation sequencing.	Am J Hum Genet	2021
33264411	The Human Phenotype Ontology in 2021.	Nucleic Acids Res	2021
34739835	Interpretable prioritization of splice variants in diagnostic next-generation sequencing.	Am J Hum Genet	2021
33752678	Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome.	Orphanet J Rare Dis	2021
34739835	Interpretable prioritization of splice variants in diagnostic next-generation sequencing.	Am J Hum Genet	2021
34289339	Interpretable prioritization of splice variants in diagnostic next-generation sequencing.	Am J Hum Genet	2021
32755546	Interpretable Clinical Genomics with a Likelihood Ratio Paradigm.	Am J Hum Genet	2020
32019583	Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes.	Orphanet J Rare Dis	2020
32755546	Interpretable Clinical Genomics with a Likelihood Ratio Paradigm.	Am J Hum Genet	2020
32787960	A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome.	Orphanet J Rare Dis	2020
32019583	Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes.	Orphanet J Rare Dis	2020
32787960	A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome.	Orphanet J Rare Dis	2020
30476213	Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.	Nucleic Acids Res	2019
30476213	Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.	Nucleic Acids Res	2019
31479590	Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.	Curr Protoc Hum Genet	2019
31479590	Encoding Clinical Data with the Human Phenotype Ontology for Computational Differential Diagnostics.	Curr Protoc Hum Genet	2019
29632381	Plain-language medical vocabulary for precision diagnosis.	Nat Genet	2018
29632381	Plain-language medical vocabulary for precision diagnosis.	Nat Genet	2018
25660025	Niche-Based Screening in Multiple Myeloma Identifies a Kinesin-5 Inhibitor with Improved Selectivity over Hematopoietic Progenitors.	Cell Rep	2015
25660025	Niche-Based Screening in Multiple Myeloma Identifies a Kinesin-5 Inhibitor with Improved Selectivity over Hematopoietic Progenitors.	Cell Rep	2015
23403082	Cinnamides as selective small-molecule inhibitors of a cellular model of breast cancer stem cells.	Bioorg Med Chem Lett	2013
23403082	Cinnamides as selective small-molecule inhibitors of a cellular model of breast cancer stem cells.	Bioorg Med Chem Lett	2013
24900788	Diversity-oriented synthesis yields a new drug lead for treatment of chagas disease.	ACS Med Chem Lett	2013
24900788	Diversity-oriented synthesis yields a new drug lead for treatment of chagas disease.	ACS Med Chem Lett	2013
22503247	Identification of a selective small molecule inhibitor of breast cancer stem cells.	Bioorg Med Chem Lett	2012
22853929	Screening for inhibitors of an essential chromatin remodeler in mouse embryonic stem cells by monitoring transcriptional regulation.	J Biomol Screen	2012
22503247	Identification of a selective small molecule inhibitor of breast cancer stem cells.	Bioorg Med Chem Lett	2012
22941295	Phenotypic high-throughput screening elucidates target pathway in breast cancer stem cell-like cells.	J Biomol Screen	2012

1 - 50 of 66

Jens Hansen

Icahn School of Medicine at Mount Sinai

Career Start Year 2011

Number of shared co-authors 6

Michael T Zimmermann

Medical College of Wisconsin

Career Start Year 2009

Number of shared co-authors 10

Yuanfang Guan

University of Michigan ann arbor

Career Start Year 2007

Number of shared co-authors 1

Andrew T Magis

Institute for Systems Biology

Career Start Year 2007

Number of shared co-authors 0

Khader Shameer

School of Public Health, Imperial College London

Career Start Year 2006

Number of shared co-authors 1

Joel T Dudley

Institute for Next Generation Healthcare

Career Start Year 2006

Number of shared co-authors 2

Hai Fang

University of Bristol

Career Start Year 2006

Number of shared co-authors 5

Kousik Kundu

The Wellcome Sanger Institute

Career Start Year 2005

Number of shared co-authors 3

Avi Ma'ayan

Icahn School of Medicine at Mount Sinai

Career Start Year 2005

Number of shared co-authors 3

Abdullah Kahraman

University of Zurich

Career Start Year 2005

Number of shared co-authors 1

Anja Stefanski

Universitatsklinikum

Career Start Year 2003

Number of shared co-authors 2

Matthew H Brush

University of Colorado Anschutz Medical Campus

Career Start Year 2003

Number of shared co-authors 42

Gonzalo L??pez

Children's Hospital of Philadelphia

Career Start Year 2003

Number of shared co-authors 2

Max Kotlyar

Schroeder Arthritis Institute

Career Start Year 2002

Number of shared co-authors 1

Andrew I Su

The Scripps Research Institute

Career Start Year 2001

Number of shared co-authors 13

Sean D Mooney

University of Washington

Career Start Year 2001

Number of shared co-authors 14

Eric W Klee

Mayo Clinic College of Medicine and Science

Career Start Year 2001

Number of shared co-authors 14

Jaime H Cheah

Johns Hopkins University School of Medicine

Career Start Year 2000

Number of shared co-authors 5

Peter White

The Ohio State University

Career Start Year 2000

Number of shared co-authors 10

Gary D Bader

University of Toronto

Career Start Year 2000

Number of shared co-authors 9

Igor Jurisica

Schroeder Arthritis Institute

Career Start Year 1998

Number of shared co-authors 3

J Lynn Fink

The University of Queensland Diamantina Institute, The University of Queensland

Career Start Year 1997

Number of shared co-authors 0

Michael R Barnes

William Harvey Research Institute, Queen Mary University of London

Career Start Year 1997

Number of shared co-authors 12

Shannon K McWeeney

Oregon Health & Science University, University of California Berkeley

Career Start Year 1997

Number of shared co-authors 1

Rajasree Menon

University of Michigan Medical School ann arbor

Career Start Year 1996

Number of shared co-authors 1

Christopher P Austin

St. George's University Medical School

Career Start Year 1990

Number of shared co-authors 24

Shrikant Mane

Yale School of Medicine

Career Start Year 1989

Number of shared co-authors 11

Russ B Altman

Stanford University

Career Start Year 1982

Number of shared co-authors 7

Brian D Athey

University of Michigan Medical School ann arbor

Career Start Year 1977

Number of shared co-authors 6

Yves A Lussier

Center for Biomedical Informatics and Biostatistics, University of Arizona

Career Start Year 1971

Number of shared co-authors 2

row(s) 1 - 30 of 30

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 12

Peter N Robinson

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 12

Melissa A Haendel

Co-authored papers 11

Michael Gargano

Co-authored papers 10

Nicole Vasilevsky

Critical Path Institute

Co-authored papers 9

Daniel Danis

Biomedical Research Center, Slovak Academy of Sciences

Co-authored papers 9

Christopher J Mungall

International Society for Biocuration, Lawrence Berkeley National Laboratory, University of Edinburgh, University of Edinburgh School of Biological Sciences

Co-authored papers 9

Julie A McMurry

University of Colorado - Anschutz Medical Campus

Co-authored papers 8

Julius O B Jacobsen

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 7

Hannah Blau

Co-authored papers 6

Damian Smedley

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 6