List of works - Jenny Taylor

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations.

scientific article

A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.

scientific article published on 08 March 2016

A genome-wide screen in 1119 relative pairs with autoimmune thyroid disease.

scientific article

A high throughput screen for active human transposable elements.

scientific article published in February 2018

A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.

scientific article published on 23 March 2018

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss

scientific article published on 10 August 2012

A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability

scientific article published on October 2017

Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities

scientific article published on 23 August 2016

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

scientific article published on 15 February 2018

Characterisation of the changing genomic landscape of metastatic melanoma using cell free DNA.

scientific article published on September 2017

Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.

scientific article

Clinical spectrum of STX1B-related epileptic disorders.

scientific article published on 8 February 2019

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

scientific article

Clinical-grade validation of whole genome sequencing reveals robust detection of low-frequency variants and copy number alterations in CLL

scientific article published on 29 May 2018

Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing.

scientific article published on 2 April 2018

Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.

scientific article published on 13 September 2016

Cytoplasmic domains of the transporter associated with antigen processing and P-glycoprotein interact with subunits of the proteasome

scientific article

DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer

scientific article

De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation.

scientific article published on 25 May 2016

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome

scientific article published on 5 November 2015

Diagnosing idiopathic learning disability: a cost-effectiveness analysis of microarray technology in the National Health Service of the United Kingdom.

scientific article published on 5 June 2007

Do health professionals value genomic testing? A discrete choice experiment in inherited cardiovascular disease

scientific article published on 11 June 2019

Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder

scientific article published in April 2013

Exploring the potential duty of care in clinical genomics under UK law.

scientific article published on 14 August 2017

FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency

scientific article published on 03 December 2021

From Genotype to Phenotype

scientific article published on 01 October 2018

Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations

scientific article

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis

scientific article published on 8 April 2015

Germline selection shapes human mitochondrial DNA diversity

scientific article published on 23 May 2019

Hierarchical probabilistic models for multiple gene/variant associations based on next-generation sequencing data.

scientific article

Human induced pluripotent stem cell derived erythroblasts can undergo definitive erythropoiesis and co-express gamma and beta globins

scientific article

Human slack potassium channel mutations increase positive cooperativity between individual channels

scientific article

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma

scientific article published on 28 November 2019

Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)

scientific article published on 28 January 2016

Identification of a newVHLexon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

scientific article published on 11 June 2018

Impact of month of birth on the development of autoimmune thyroid disease in the United Kingdom and Europe

scientific article published on 19 May 2014

Managing the long term care of inflammatory bowel disease patients: The cost to European health care providers.

scientific article published on 10 March 2011

Metabolic modulator perhexiline corrects energy deficiency and improves exercise capacity in symptomatic hypertrophic cardiomyopathy.

scientific article published on 4 October 2010

Mutation 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

article

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

scientific article published on 15 November 2018

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

scientific article

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

scientific article published on 12 April 2019

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

scientific journal article

Presence of multiple recurrent mutations confers poor trial outcome of relapsed/refractory CLL.

scientific article published on 27 August 2015

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

scientific article published on 17 August 2016

ReliableGenome: annotation of genomic regions with high/low variant calling concordance.

scientific article

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

scientific article

Sequencing of human genomes with nanopore technology

scientific article published on 23 April 2019

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

scientific article published on 31 March 2018

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

scientific article

Targeted Next-Generation Sequencing of Plasma DNA from Cancer Patients: Factors Influencing Consistency with Tumour DNA and Prospective Investigation of Its Utility for Diagnosis.

scientific article

Using Genomic Information to Guide Ibrutinib Treatment Decisions in Chronic Lymphocytic Leukaemia: A Cost-Effectiveness Analysis

scientific article published on 31 July 2017

Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study

scientific article published on 13 February 2018

Whole-genome sequencing identifies homozygous BRCA2 deletion guiding treatment in dedifferentiated prostate cancer

scientific article

Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHVmut and IgHVunmut subgroups

scientific article published on 06 June 2017

List of works by Jenny Taylor

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations.

A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.

A genome-wide screen in 1119 relative pairs with autoimmune thyroid disease.

A high throughput screen for active human transposable elements.

A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss

A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability

Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities

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

Characterisation of the changing genomic landscape of metastatic melanoma using cell free DNA.

Clinical applicability and cost of a 46-gene panel for genomic analysis of solid tumours: Retrospective validation and prospective audit in the UK National Health Service.

Clinical spectrum of STX1B-related epileptic disorders.

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

Clinical-grade validation of whole genome sequencing reveals robust detection of low-frequency variants and copy number alterations in CLL

Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing.

Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.

Cytoplasmic domains of the transporter associated with antigen processing and P-glycoprotein interact with subunits of the proteasome

DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer

De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation.

Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome

Diagnosing idiopathic learning disability: a cost-effectiveness analysis of microarray technology in the National Health Service of the United Kingdom.

Do health professionals value genomic testing? A discrete choice experiment in inherited cardiovascular disease

Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder

Exploring the potential duty of care in clinical genomics under UK law.

FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency

From Genotype to Phenotype

Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis

Germline selection shapes human mitochondrial DNA diversity

Hierarchical probabilistic models for multiple gene/variant associations based on next-generation sequencing data.

Human induced pluripotent stem cell derived erythroblasts can undergo definitive erythropoiesis and co-express gamma and beta globins

Human slack potassium channel mutations increase positive cooperativity between individual channels

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma

Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)

Identification of a newVHLexon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

Impact of month of birth on the development of autoimmune thyroid disease in the United Kingdom and Europe

Managing the long term care of inflammatory bowel disease patients: The cost to European health care providers.

Metabolic modulator perhexiline corrects energy deficiency and improves exercise capacity in symptomatic hypertrophic cardiomyopathy.

Mutation 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

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

Presence of multiple recurrent mutations confers poor trial outcome of relapsed/refractory CLL.

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

ReliableGenome: annotation of genomic regions with high/low variant calling concordance.

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

Sequencing of human genomes with nanopore technology

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

Targeted Next-Generation Sequencing of Plasma DNA from Cancer Patients: Factors Influencing Consistency with Tumour DNA and Prospective Investigation of Its Utility for Diagnosis.

Using Genomic Information to Guide Ibrutinib Treatment Decisions in Chronic Lymphocytic Leukaemia: A Cost-Effectiveness Analysis

Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study

Whole-genome sequencing identifies homozygous BRCA2 deletion guiding treatment in dedifferentiated prostate cancer

Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHVmut and IgHVunmut subgroups