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Genetics

D-Index
60
Citations
12768
World Ranking
3159
National Ranking
387

Overview

Jenny C. Taylor is affiliated with the University of Oxford in the United Kingdom. Their research primarily spans the fields of Biochemistry, Genetics and Molecular Biology, with a particular focus on Genetics and Molecular Biology subfields. Their work also touches on areas including Pulmonary and Respiratory Medicine, Pathology and Forensic Medicine, and Cancer Research.

The scientist has contributed significantly to topics such as Genomics and Rare Diseases, Genomic Variations and Chromosomal Abnormalities, Cancer Genomics and Diagnostics, Genetics and Neurodevelopmental Disorders, Genetic Factors in Colorectal Cancer, RNA Modifications and Cancer, and Connective Tissue Disorders Research.

Jenny C. Taylor has published extensively, with frequent contributions appearing in venues including bioRxiv (Cold Spring Harbor Laboratory), The American Journal of Human Genetics, Journal of Medical Genetics, Clinical Genetics, and Genetics in Medicine.

Recent notable papers include:

  • "Recommendations for clinical interpretation of variants found in non-coding regions of the genome," 2022, Genome Medicine
  • "Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans," 2020, Nature Communications
  • "Iterative computational design and crystallographic screening identifies potent inhibitors targeting the Nsp3 macrodomain of SARS-CoV-2," 2023, Proceedings of the National Academy of Sciences
  • "Genomic and transcriptomic correlates of Richter transformation in chronic lymphocytic leukemia," 2020, Blood
  • "Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms," 2021, The American Journal of Human Genetics

Frequent co-authors working alongside Jenny C. Taylor include Alistair T. Pagnamenta, Matteo P. Ferla, Edoardo Giacopuzzi, Reza Maroofian, and Anna Schuh.

Best Publications

  • Genetic mechanisms of critical illness in Covid-19.

    E. Pairo-Castineira;E. Pairo-Castineira;S. Clohisey;L. Klaric;A. D. Bretherick

  • A genome-wide association study of global gene expression

    Anna L Dixon;Anna L Dixon;Liming Liang;Miriam F Moffatt;Wei Chen

  • Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas

    Claire Palles;Jean-Baptiste Cazier;Kimberley M Howarth;Enric Domingo

  • Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

    Roddy Walsh;Kate L. Thomson;James S. Ware;James S. Ware;Birgit H. Funke

  • Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature.

    Katharina Schwarze;James Buchanan;Jenny C Taylor;Sarah Wordsworth;Sarah Wordsworth

  • Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

    Jenny C. Taylor;Jenny C. Taylor;Hilary C. Martin;Stefano Lise;John Broxholme

  • DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer.

    David N. Church;Sarah E.W. Briggs;Claire Palles;Enric Domingo

  • Monitoring chronic lymphocytic leukemia progression by whole genome sequencing reveals heterogeneous clonal evolution patterns

    Anna Schuh;Jennifer Becq;Sean Humphray;Adrian Alexa

  • Metabolic Modulator Perhexiline Corrects Energy Deficiency and Improves Exercise Capacity in Symptomatic Hypertrophic Cardiomyopathy

    Khalid Abozguia;Perry Elliott;William McKenna;Thanh Trung Phan

  • Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

    Hilary C. Martin;Grace E. Kim;Alistair T. Pagnamenta;Alistair T. Pagnamenta;Yoshiko Murakami

  • Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1.

    Emma Jaeger;Simon Leedham;Simon Leedham;Annabelle Lewis;Stefania Segditsas

  • Clinical utilisation of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation

    Dagan Wells;Kulvinder Kaur;Jamie A. Grifo;Michael Glassner

  • 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

    Damian Smedley;Katherine R. Smith;Antonio Martin

  • SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage

    Ruth Clifford;Tania Louis;Pauline Robbe;Sam Ackroyd

  • PDK-1 regulates lactate production in hypoxia and is associated with poor prognosis in head and neck squamous cancer

    S M Wigfield;S C Winter;A Giatromanolaki;J Taylor

  • Germline selection shapes human mitochondrial DNA diversity.

    W Wei;S Tuna;M J Keogh;K R Smith

  • The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom.

    Katharina Schwarze;James Buchanan;James Buchanan;Jilles M Fermont;Helene Dreau

  • Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants.

    Jennifer J Johnston;Jasper J van der Smagt;Jill A Rosenfeld;Alistair T Pagnamenta

  • Erratum: Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas (Nature Genetics (2013) 45 (136-144))

    C Palles;J B Cazier;K M Howarth;E Domingo

  • Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci

    J. D. Reveille;A. M. Sims;P. Danoy;D. M. Evans

Frequent Co-Authors

Alistair T. Pagnamenta
Alistair T. Pagnamenta University of Oxford
Anna Schuh
Anna Schuh University of Oxford
Samantha J.L. Knight
Samantha J.L. Knight University of Oxford
Hugh Watkins
Hugh Watkins University of Oxford
Ian Tomlinson
Ian Tomlinson University of Oxford
Peter Donnelly
Peter Donnelly University of Oxford
David Bentley
David Bentley University of Colorado Denver
Francesco Muntoni
Francesco Muntoni University College London
Mark J. Caulfield
Mark J. Caulfield Queen Mary University of London
Peter Hillmen
Peter Hillmen St James's University Hospital

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