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Genetics

D-Index
69
Citations
24252
World Ranking
2320
National Ranking
290

Overview

Damian Smedley is affiliated with Queen Mary University of London in the United Kingdom. Their research spans the broad field of Biochemistry, Genetics, and Molecular Biology, with a focus on several interconnected subfields such as Molecular Biology, Genetics, Cancer Research, Cellular and Molecular Neuroscience, and Artificial Intelligence.

The scientist's main topics of work encompass a diverse range of areas within genomics and molecular studies. These include:

  • Genomics and Rare Diseases
  • Biomedical Text Mining and Ontologies
  • Bioinformatics and Genomic Networks
  • Genomic variations and chromosomal abnormalities
  • RNA and protein synthesis mechanisms
  • Cancer Genomics and Diagnostics
  • RNA Research and Splicing

Smedley has contributed to a number of publications in various venues, with a strong presence in open-access and specialized journals. Frequent publication venues include:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • Zenodo (CERN European Organization for Nuclear Research)
  • Genetics in Medicine
  • The American Journal of Human Genetics
  • Nucleic Acids Research

Recent papers authored or co-authored by Smedley include:

  • The Human Phenotype Ontology in 2021, 2020, Nucleic Acids Research
  • Mutational signature in colorectal cancer caused by genotoxic pks+ E. coli, 2020, Nature
  • Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants, 2022, Nature Genetics
  • The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease, 2022, Nucleic Acids Research
  • A basement membrane discovery pipeline uncovers network complexity, regulators, and human disease associations, 2022, Science Advances

Frequent co-authors of Damian Smedley include:

  • Peter N. Robinson
  • Julius O.B. Jacobsen
  • Pilar Cacheiro
  • Melissa Haendel
  • Mark J. Caulfield

Best Publications

  • The Human Phenotype Ontology in 2021

    Sebastian Köhler;Michael Gargano;Nicolas Matentzoglu;Leigh C. Carmody

  • Mutational signature in colorectal cancer caused by genotoxic pks+ E. coli.

    Cayetano Pleguezuelos-Manzano;Jens Puschhof;Axel Rosendahl Huber;Arne van Hoeck

  • The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

    Sebastian Köhler;Sandra C. Doelken;Christopher J. Mungall;Sebastian Bauer

  • The BioMart community portal: an innovative alternative to large, centralized data repositories

    Damian Smedley;Syed Haider;Steffen Durinck;Luca Pandini

  • The Human Phenotype Ontology in 2017

    Sebastian Köhler;Nicole A. Vasilevsky;Mark Engelstad;Erin D. Foster

  • Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

    Sebastian Köhler;Leigh Carmody;Nicole A. Vasilevsky;Julius O. B. Jacobsen

  • An Overview of Ensembl

    Ewan Birney;T. Daniel Andrews;Paul Bevan;Mario Caccamo

  • Genome-wide Generation and Systematic Phenotyping of Knockout Mice Reveals New Roles for Many Genes

    Jacqueline K White;Anna-Karin Gerdin;Natasha A Karp;Ed Ryder

  • EnsMart: A Generic System for Fast and Flexible Access to Biological Data

    Arek Kasprzyk;Damian Keefe;Damian Smedley;Darin London

  • The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species.

    Christopher J. Mungall;Julie A. McMurry;Sebastian Köhler;James P. Balhoff

  • A Genomewide Scan for Loci Predisposing to Type 2 Diabetes in a U.K. Population (The Diabetes UK Warren 2 Repository): Analysis of 573 Pedigrees Provides Independent Replication of a Susceptibility Locus on Chromosome 1q

    Steven Wiltshire;Steven Wiltshire;Andrew T. Hattersley;Graham A. Hitman;Mark Walker

  • BioMart Central Portal—unified access to biological data

    Syed Haider;Benoit Ballester;Damian Smedley;Junjun Zhang

  • PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.

    Antonio Rueda Martin;Eleanor Williams;Rebecca E Foulger;Sarah Leigh

  • The 100 000 Genomes Project: bringing whole genome sequencing to the NHS

    Clare Turnbull;Richard H Scott;Ellen Thomas;Louise Jones

  • Whole-genome sequencing of patients with rare diseases in a national health system

    Ernest Turro;William J Astle;Karyn Megy;Stefan Graf

  • Ensembl’s 10th year

    Paul Flicek;Bronwen L. Aken;Benoît Ballester;Kathryn Beal

  • Fusion of splicing factor genes PSF and NonO (p54nrb) to the TFE3 gene in papillary renal cell carcinoma.

    J Clark;YJ Lu;SK Sidhar;C Parker

  • Improved exome prioritization of disease genes through cross-species phenotype comparison.

    Peter N. Robinson;Sebastian Köhler;Anika Oellrich;Sanger Mouse Genetics

  • Next-generation diagnostics and disease-gene discovery with the Exomiser

    Damian Smedley;Julius O B Jacobsen;Marten Jäger;Sebastian Köhler

  • The mammalian gene function resource: the international knockout mouse consortium

    Allan Bradley;Konstantinos Anastassiadis;Abdelkader Ayadi;James F. Battey

Frequent Co-Authors

Peter N. Robinson
Peter N. Robinson The Jackson Laboratory
Melissa A. Haendel
Melissa A. Haendel University of Colorado Anschutz Medical Campus
Christopher J. Mungall
Christopher J. Mungall Lawrence Berkeley National Laboratory
Helen Parkinson
Helen Parkinson European Bioinformatics Institute
Paul N. Schofield
Paul N. Schofield University of Cambridge
Suzanna E. Lewis
Suzanna E. Lewis Lawrence Berkeley National Laboratory
Colin McKerlie
Colin McKerlie Hospital for Sick Children
Kevin C K Lloyd
Kevin C K Lloyd University of California, Davis
Paul Flicek
Paul Flicek The Jackson Laboratory
Yann Herault
Yann Herault Institute of Genetics and Molecular and Cellular Biology

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