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Author Details

Jenny C Taylor
University of Oxford
1996
121
43
PMIDPaper TitleJournal TitlePublished Year
36322149Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.Genet Med2023
37517035Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.Brain2023
37946251Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.Genome Med2023
37157895Genome sequencing identifies KMT2E-disrupting cryptic structural variant in a female with O'Donnell-Luria-Rodan syndrome.Clin Genet2023
36399134Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.Genet Med2023
36896672The prevalence and phenotypic range associated with biallelic PKDCC variants.Clin Genet2023
36411030Conclusion of diagnostic odysseys due to inversions disrupting <i>GLI3</i> and <i>FBN1</i>.J Med Genet2023
34183358Recurrent <i>de novo</i> missense variants in <i>GNB2</i> can cause syndromic intellectual disability.J Med Genet2022
35668994The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing.J Endocr Soc2022
35575786Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review.Genet Med2022
35460607Germline MBD4 deficiency causes a multi-tumor predisposition syndrome.Am J Hum Genet2022
35662467Venus: Elucidating the Impact of Amino Acid Variants on Protein Function Beyond Structure Destabilisation.J Mol Biol2022
35850704Recommendations for clinical interpretation of variants found in non-coding regions of the genome.Genome Med2022
33547136Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent <i>TUBB2A</i> mutation.J Med Genet2022
34949103Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome.Circ Genom Precis Med2022
35234913GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data.Nucleic Acids Res2022
34989426Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.Hum Mutat2022
34612517Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.Clin Genet2022
34782440Variable skeletal phenotypes associated with biallelic variants in <i>PRKG2</i>.J Med Genet2022
34605855Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.Brain2022
32722772A statistical approach for tracking clonal dynamics in cancer using longitudinal next-generation sequencing data.Bioinformatics2021
33742045Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma.Sci Rep2021
33712616Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening.Nat Commun2021
33805100An Evaluation of the Diagnostic Accuracy of a Panel of Variants in <i>DPYD</i> and a Single Variant in ENOSF1 for Predicting Common Capecitabine Related Toxicities.Cancers (Basel)2021
34860543FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency.Sci Adv2021
34758253100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.N Engl J Med2021
34662929Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.Ann Clin Transl Neurol2021
34010605A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.Am J Hum Genet2021
34022131Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.Am J Hum Genet2021
33250374Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter.Neuromuscul Disord2021
33308444SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling.Am J Hum Genet2021
33206936Genomic and transcriptomic correlates of Richter transformation in chronic lymphocytic leukemia.Blood2021
31358947The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom.Genet Med2020
32061125MichelaNglo: sculpting protein views on web pages without coding.Bioinformatics2020
32776440Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia.Am J Med Genet A2020
30783266Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.Genet Med2019
31795195Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.Cancers (Basel)2019
31186546Do health professionals value genomic testing? A discrete choice experiment in inherited cardiovascular disease.Eur J Hum Genet2019
31353023De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.Am J Hum Genet2019
31345272Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.Genome Med2019
31363758Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice.Hum Mol Genet2019
31015479Sequencing of human genomes with nanopore technology.Nat Commun2019
30737342Clinical spectrum of <i>STX1B</i>-related epileptic disorders.Neurology2019
30859559Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.Clin Genet2019
28584254Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHV<sup>mut</sup> and IgHV<sup>unmut</sup> subgroups.Leukemia2018
29808933Clinical-grade validation of whole genome sequencing reveals robust detection of low-frequency variants and copy number alterations in CLL.Br J Haematol2018
29891534Identification of a new <i>VHL</i> exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.Blood2018
30042065Mutation burden and other molecular markers of prognosis in colorectal cancer treated with curative intent: results from the QUASAR 2 clinical trial and an Australian community-based series.Lancet Gastroenterol Hepatol2018
30449657Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.Neuron2018
30354302From Genotype to Phenotype.Circ Genom Precis Med2018
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Collaborators

Alistair T Pagnamenta
NIHR Biomedical Research Centre, University of Oxford
Co-authored papers 50
John Taylor
Oxford University Hospitals NHS Foundation Trust, Churchill Hospital
Co-authored papers 16
Sarah Wordsworth
Health Economics Research Centre, University of Oxford
Co-authored papers 13
Hugh Watkins
Co-authored papers 13
David R Bentley
Illumina Cambridge Ltd.
Co-authored papers 9
James Buchanan
Health Economics Research Centre, University of Oxford
Co-authored papers 9
Carme Camps
National Institute for Health Research Biomedical Research Centre
Co-authored papers 8
Andrew O M Wilkie
NIHR Oxford Biomedical Research Centre
Co-authored papers 8
Hilary C Martin
Wellcome Sanger Institute
Co-authored papers 7
Henry Houlden
Institute of Neurology, University College London (UCL)
Co-authored papers 7
Claire Palles
Institute of Cancer and Genomic Sciences, University of Birmingham
Co-authored papers 7
Tracy Lester
Oxford University Hospitals NHS Foundation Trust, Churchill Hospital
Co-authored papers 6
Andrea H N??meth
University of Oxford
Co-authored papers 5
Alexander Kanapin
Co-authored papers 5
Fowzan S Alkuraya
King Faisal Specialist Hospital and Research Center
Co-authored papers 5
Erika Kvikstad
University of Oxford
Co-authored papers 5
Peter Donnelly
University of Oxford
Co-authored papers 5
Siddharth Banka
University of Manchester
Co-authored papers 5
Gil McVean
Big Data Institute, University of Oxford
Co-authored papers 5
Julian C Knight
University of Oxford
Co-authored papers 4
Richard R Copley
Co-authored papers 4
David Buck
Co-authored papers 4
Jill Clayton-Smith
Institute of Human Development, University of Manchester
Co-authored papers 4
Maha S Zaki
Human Genetics and Genome Research Institute, National Research Centre
Co-authored papers 3
Sean Humphray
Illumina Ltd.
Co-authored papers 3
Caroline F Wright
University of Exeter, Royal Devon and Exeter Hospital
Co-authored papers 3
Mark J Caulfield
William Harvey Research Institute, Queen Mary University of London
Co-authored papers 3
Peter J Ratcliffe
Co-authored papers 3
Mark T Ross
Illumina Cambridge Ltd.
Co-authored papers 3
Ingrid E Scheffer
Co-authored papers 3
Release 1.2