Author details

Full Name

Peter N Robinson

Affiliation

William Harvey Research Institute, Queen Mary University of London

ORCID

Career Start Year

1995

Papers

303

H Index

Expertise

CM4AI Collaborator

Gloria M Sheynkman (CM4AI)

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
37889991	Computing Minimal Boolean Models of Gene Regulatory Networks.	J Comput Biol	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
37503093	On the limitations of large language models in clinical diagnosis.	medRxiv	2024
37953324	The Human Phenotype Ontology in 2024: phenotypes around the world.	Nucleic Acids Res	2024
37889991	Computing Minimal Boolean Models of Gene Regulatory Networks.	J Comput Biol	2024
37503093	On the limitations of large language models in clinical diagnosis.	medRxiv	2024
36929917	An expectation-maximization framework for comprehensive prediction of isoform-specific functions.	Bioinformatics	2023
37647632	The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140â¿¿214 UK Biobank participants.	Blood	2023
36823605	The Environmental Conditions, Treatments, and Exposures Ontology (ECTO): connecting toxicology and exposure to human health and beyond.	J Biomed Semantics	2023
37398049	Alternative splicing is coupled to gene expression in a subset of variably expressed genes.	bioRxiv	2023
37196000	Phenopacket-tools: Building and validating GA4GH Phenopackets.	PLoS One	2023
37389415	KG-Hub-building and exchanging biological knowledge graphs.	Bioinformatics	2023
37066232	Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.	medRxiv	2023
36747660	The Ontology of Biological Attributes (OBA) - Computational Traits for the Life Sciences.	bioRxiv	2023
36929917	An expectation-maximization framework for comprehensive prediction of isoform-specific functions.	Bioinformatics	2023
37502882	Predicting nutrition and environmental factors associated with female reproductive disorders using a knowledge graph and random forests.	medRxiv	2023
37647632	The effects of pathogenic and likely pathogenic variants for inherited hemostasis disorders in 140â¿¿214 UK Biobank participants.	Blood	2023
37502882	Predicting nutrition and environmental factors associated with female reproductive disorders using a knowledge graph and random forests.	medRxiv	2023
37389415	KG-Hub-building and exchanging biological knowledge graphs.	Bioinformatics	2023
37398049	Alternative splicing is coupled to gene expression in a subset of variably expressed genes.	bioRxiv	2023
37196000	Phenopacket-tools: Building and validating GA4GH Phenopackets.	PLoS One	2023
37066232	Towards robust clinical genome interpretation: developing a consistent terminology to characterize disease-gene relationships - allelic requirement, inheritance modes and disease mechanisms.	medRxiv	2023
36747660	The Ontology of Biological Attributes (OBA) - Computational Traits for the Life Sciences.	bioRxiv	2023
36823605	The Environmental Conditions, Treatments, and Exposures Ontology (ECTO): connecting toxicology and exposure to human health and beyond.	J Biomed Semantics	2023
33991581	Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.	J Allergy Clin Immunol	2022
35595299	Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases.	Brief Bioinform	2022
35524622	Risk of new-onset psychiatric sequelae of COVID-19 in the early and late post-acute phase.	World Psychiatry	2022
35524573	Deep phenotyping: symptom annotation made simple with SAMS.	Nucleic Acids Res	2022
35391505	Phenotype-driven approaches to enhance variant prioritization and diagnosis of rare disease.	Hum Mutat	2022
35705716	The GA4GH Phenopacket schema defines a computable representation of clinical data.	Nat Biotechnol	2022
35705716	The GA4GH Phenopacket schema defines a computable representation of clinical data.	Nat Biotechnol	2022
36093353	Metformin is Associated with Reduced COVID-19 Severity in Patients with Prediabetes.	medRxiv	2022
35442193	The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice.	Genet Med	2022
35639768	FABIAN-variant: predicting the effects of DNA variants on transcription factor binding.	Nucleic Acids Res	2022
35570298	NSAID use and clinical outcomes in COVID-19 patients: a 38-center retrospective cohort study.	Virol J	2022
36149471	[Rare-disease data standards].	Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz	2022
35934592	Phenotype-aware prioritisation of rare Mendelian disease variants.	Trends Genet	2022
35665012	Generalizable Long COVID Subtypes: Findings from the NIH N3C and RECOVER Programs.	medRxiv	2022
35351638	PhenoRerank: A re-ranking model for phenotypic concept recognition pre-trained on human phenotype ontology.	J Biomed Inform	2022
36400170	Metformin is associated with reduced COVID-19 severity in patients with prediabetes.	Diabetes Res Clin Pract	2022
36380762	Post-COVID Phenotypic Manifestations are Associated with New-Onset Psychiatric Disease: Findings from the NIH N3C and RECOVER Studies.	medRxiv	2022
36910590	GA4GH Phenopackets: A Practical Introduction.	Adv Genet (Hoboken)	2022
33991581	Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.	J Allergy Clin Immunol	2022
35074468	Betacoronavirus-specific alternate splicing.	Genomics	2022
35442193	The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice.	Genet Med	2022
35351638	PhenoRerank: A re-ranking model for phenotypic concept recognition pre-trained on human phenotype ontology.	J Biomed Inform	2022
35705716	The GA4GH Phenopacket schema defines a computable representation of clinical data.	Nat Biotechnol	2022
35705716	The GA4GH Phenopacket schema defines a computable representation of clinical data.	Nat Biotechnol	2022

1 - 50 of 606

Zeynep Coban Akdemir

Baylor College of Medicine

Career Start Year 2012

Number of shared co-authors 54

Vikas Pejaver

Institute for Genomic Health, Icahn School of Medicine at Mount Sinai

Career Start Year 2010

Number of shared co-authors 31

Susanne Motameny

University of Cologne

Career Start Year 2008

Number of shared co-authors 16

Yiran Guo

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

Career Start Year 2007

Number of shared co-authors 33

Hongbo M Xie

Huadong Hospital Affiliated to Fudan University

Career Start Year 2007

Number of shared co-authors 6

Shalini N Jhangiani

Baylor College of Medicine

Career Start Year 2007

Number of shared co-authors 57

Ali Torkamani

Scripps Science Institute

Career Start Year 2005

Number of shared co-authors 37

Kati J Buckingham

University of Washington

Career Start Year 2005

Number of shared co-authors 22

David T Miller

Boston Children's Hospital

Career Start Year 2005

Number of shared co-authors 26

Praveen F Cherukuri

Sanford School of Medicine, University of South Dakota

Career Start Year 2005

Number of shared co-authors 28

Morris A Swertz

University of Groningen, University Medical Center Groningen

Career Start Year 2004

Number of shared co-authors 92

Christin D Collins

Emory University Department of Human Genetics Atlanta Georgia 30322.

Career Start Year 2003

Number of shared co-authors 6

Sek Won Kong

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

Career Start Year 2003

Number of shared co-authors 8

Michael A Simpson

King's College London

Career Start Year 2002

Number of shared co-authors 47

Yufeng Shen

Columbia University

Career Start Year 2002

Number of shared co-authors 33

Anne O'Donnell-Luria

Broad Institute of MIT and Harvard

Career Start Year 2002

Number of shared co-authors 56

Stacey Gabriel

Broad Institute of MIT and Harvard

Career Start Year 2001

Number of shared co-authors 76

Eric W Klee

Mayo Clinic College of Medicine and Science

Career Start Year 2001

Number of shared co-authors 48

Jonathan A Bernstein

Stanford University

Career Start Year 2000

Number of shared co-authors 53

Terry A Braun

University of Iowa

Career Start Year 1999

Number of shared co-authors 21

Joshua D Smith

University of Washington

Career Start Year 1998

Number of shared co-authors 32

Michael O Dorschner

University of Washington

Career Start Year 1997

Number of shared co-authors 28

Hakon Hakonarson

The Center for Applied Genomics, Children's Hospital of Philadelphia

Career Start Year 1995

Number of shared co-authors 122

Stanley F Nelson

university of california los angeles

Career Start Year 1993

Number of shared co-authors 45

Kimberly F Doheny

Center for Inherited Disease Research, Johns Hopkins School of Medicine

Career Start Year 1993

Number of shared co-authors 47

Wendy K Chung

Boston Children's Hospital, Harvard Medical School

Career Start Year 1993

Number of shared co-authors 123

Donna M Muzny

Baylor College of Medicine

Career Start Year 1988

Number of shared co-authors 116

Mark J Daly

Massachusetts General Hospital

Career Start Year 1987

Number of shared co-authors 98

James C Mullikin

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1985

Number of shared co-authors 80

Thomas Meitinger

Technical University of Munich, Institute of Human Genetics

Career Start Year 1982

Number of shared co-authors 81

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 58

Melissa A Haendel

Co-authored papers 57

Stefan Mundlos

Max Planck Institute for Molecular Genetics

Co-authored papers 53

Sebastian K??hler

Division of Emergency Medicine University of Calgary Calgary Alberta Canada.

Co-authored papers 44

Christopher J Mungall

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

Co-authored papers 42

Peter M Krawitz

Institute for Genomic Statistics and Bioinformatics, University of Bonn

Co-authored papers 37

Damian Smedley

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 36

Jochen Hecht

The Barcelona Institute of Science and Technology

Co-authored papers 32

Sebastian Bauer

Institute for Medical Genetics and Human Genetics, Charite-Universitatsmedizin Berlin