Jenny Taylor

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Jenny Taylor is affiliated with the following schools: University of Oxford, Heriot-Watt University

Jenny Taylor 's AcademicInfluence.com Rankings

Jenny Taylor

Biology

#15603

World Rank

#19623

Historical Rank

Computational Biology

#379

World Rank

#381

Historical Rank

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Biology

Why Is Jenny Taylor Influential?

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According to Wikipedia, Jenny Carmeron Taylor is a British geneticist who is Professor of Genomic Medicine at the University of Oxford. Taylor is the Director of the Oxford Biomedical Research Centre Genetics Theme. Her research considers whole genome sequencing and ways to integrate genetic research into the National Health Service.

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Jenny Taylor 's Published Works

Number of citations in a given year to any of this author's works

Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author

Published Works

A genome-wide association study of global gene expression (2007) (1021)
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples (2016) (529)
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas (2013) (519)
Germline mutations in the proof-reading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas (2012) (487)
Monitoring chronic lymphocytic leukemia progression by whole genome sequencing reveals heterogeneous clonal evolution patterns. (2012) (340)
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders (2015) (319)
DNA polymerase ɛ and δ exonuclease domain mutations in endometrial cancer (2013) (275)
Whole-genome sequencing of patients with rare diseases in a national health system (2020) (239)
Metabolic Modulator Perhexiline Corrects Energy Deficiency and Improves Exercise Capacity in Symptomatic Hypertrophic Cardiomyopathy (2010) (235)
Hereditary mixed polyposis syndrome is caused by a 40kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1 (2012) (224)
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis (2014) (218)
SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage. (2014) (203)
Clinical utilisation of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation (2014) (188)
Germline selection shapes human mitochondrial DNA diversity (2019) (148)
DNA testing for hypertrophic cardiomyopathy: a cost-effectiveness model. (2010) (135)
Sequencing of human genomes with nanopore technology (2019) (129)
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease (2012) (128)
Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants (2017) (118)
Presence of multiple recurrent mutations confers poor trial outcome of relapsed/refractory CLL. (2015) (110)
The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom (2019) (109)
Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project (2018) (105)
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation. (2014) (95)
Whole-genome sequencing of bladder cancers reveals somatic CDKN1A mutations and clinicopathological associations with mutation burden (2014) (95)
A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS (2014) (95)
Recessive Mutations in SPTBN2 Implicate β-III Spectrin in Both Cognitive and Motor Development (2012) (90)
Diagnostic value of exome and whole genome sequencing in craniosynostosis (2016) (90)
Human slack potassium channel mutations increase positive cooperativity between individual channels. (2014) (90)
Mutations in the HECT domain of NEDD4L lead to AKT/mTOR pathway deregulation and cause periventricular nodular heterotopia (2016) (81)
Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature (2018) (72)
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. (2013) (72)
The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report (2021) (72)
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies (2011) (71)
TBC1D24 genotype–phenotype correlation (2016) (70)
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome. (2016) (69)
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies (2015) (68)
Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response (2018) (65)
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans (2020) (64)
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 (2017) (64)
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 (2016) (62)
TBC 1 D 24 genotype – phenotype correlation Epilepsies and other neurologic features (62)
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome (2015) (61)
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations (2016) (59)
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders (2017) (58)
“Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project (2017) (54)
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis (2015) (49)
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 (2018) (49)
Deep learning for detecting tumour-infiltrating lymphocytes in testicular germ cell tumours (2018) (46)
Clinical spectrum of STX1B-related epileptic disorders (2019) (43)
A Novel Nonsense CDK5RAP2 Mutation in a Somali Child With Primary Microcephaly and Sensorineural Hearing Loss (2012) (42)
Managing the long term care of inflammatory bowel disease patients: The cost to European health care providers. (2011) (39)
Human induced pluripotent stem cell derived erythroblasts can undergo definitive erythropoiesis and co-express gamma and beta globins (2014) (39)
Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy (2019) (39)
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder (2012) (39)
Identification of a G‐Protein Subunit‐α11 Gain‐of‐Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2) (2016) (38)
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease. (2018) (38)
Diagnosing idiopathic learning disability: a cost-effectiveness analysis of microarray technology in the National Health Service of the United Kingdom (2007) (38)
Erythrocytosis associated with a novel missense mutation in the BPGM gene (2010) (37)
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. (2019) (31)
Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome (2019) (30)
Defective tubulin detyrosination causes structural brain abnormalities with cognitive deficiency in humans and mice. (2019) (30)
A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability (2017) (29)
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature (2018) (28)
De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation (2016) (27)
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling. (2020) (24)
Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study (2018) (24)
Genomic and transcriptomic correlates of Richter's transformation in Chronic Lymphocytic Leukemia. (2020) (24)
Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations (2018) (23)
Recommendations for clinical interpretation of variants found in non-coding regions of the genome (2021) (23)
Initiation of acquired immunity in the lungs of mice lacking lymph nodes after infection with aerosolized Mycobacterium tuberculosis. (2010) (22)
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics (2019) (21)
Insights from early experience of a Rare Disease Genomic Medicine Multidisciplinary Team: a qualitative study (2017) (21)
Targeted Next-Generation Sequencing of Plasma DNA from Cancer Patients: Factors Influencing Consistency with Tumour DNA and Prospective Investigation of Its Utility for Diagnosis (2016) (21)
SAMHD 1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage (2014) (19)
New lessons from an old gene: complex splicing and a novel cryptic exon in VHL gene cause erythrocytosis and VHL disease. (2018) (19)
Remission of Inflammatory Bowel Disease in Glucose-6-Phosphatase 3 Deficiency by Allogeneic Haematopoietic Stem Cell Transplantation (2019) (18)
A homozygous variant disrupting the PIGH start‐codon is associated with developmental delay, epilepsy, and microcephaly (2018) (18)
MichelaNglo: sculpting protein views on web pages without coding (2020) (17)
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series (2019) (17)
Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing (2018) (17)
Cytoplasmic domains of the transporter associated with antigen processing and P-glycoprotein interact with subunits of the proteasome. (2005) (17)
Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods (2019) (16)
Exploring the potential duty of care in clinical genomics under UK law (2017) (16)
Clinical‐grade validation of whole genome sequencing reveals robust detection of low‐frequency variants and copy number alterations in CLL (2018) (16)
Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE (2016) (15)
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy (2021) (14)
Patents and translational research in genomics (2007) (14)
A high throughput screen for active human transposable elements (2017) (14)
Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma (2019) (13)
Periventricular heterotopia in 6 q terminal deletion syndrome : role of the C 6 orf 70 gene (2013) (13)
Impact of month of birth on the development of autoimmune thyroid disease in the United Kingdom and Europe. (2014) (13)
Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease (2013) (12)
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy. (2021) (11)
Activation of an exonic splice‐donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities (2016) (10)
A novel role for CRIM1 in the corneal response to UV and pterygium development (2019) (10)
Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening (2021) (9)
Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma (2020) (9)
Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation (2016) (9)
Characterisation of the changing genomic landscape of metastatic melanoma using cell free DNA (2017) (9)
ReliableGenome: annotation of genomic regions with high/low variant calling concordance (2016) (8)
Do health professionals value genomic testing? A discrete choice experiment in inherited cardiovascular disease (2019) (8)
Effect of Chain Length and Topological Constraints on Segmental Relaxation in Cyclic PDMS (2018) (8)
Using Genomic Information to Guide Ibrutinib Treatment Decisions in Chronic Lymphocytic Leukaemia: A Cost-Effectiveness Analysis (2017) (8)
Germline MBD4 deficiency causes a multi-tumor predisposition syndrome (2022) (8)
Expanding the phenotypic spectrum of BCS1L‐related mitochondrial disease (2021) (7)
An Evaluation of the Diagnostic Accuracy of a Panel of Variants in DPYD and a Single Variant in ENOSF1 for Predicting Common Capecitabine Related Toxicities (2021) (7)
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8. (2021) (7)
Whole-genome sequencing identifies homozygous BRCA2 deletion guiding treatment in dedifferentiated prostate cancer (2017) (7)
A statistical approach for tracking clonal dynamics in cancer using longitudinal next-generation sequencing data (2020) (7)
Whole genome sequencing for diagnosis of neurological repeat expansion disorders (2020) (7)
Multiple Endocrine Neoplasia Type 1 (MEN1) 5′UTR Deletion, in MEN1 Family, Decreases Menin Expression (2020) (6)
Colorectal Cancer Stratification in the Routine Clinical Pathway: A District General Hospital Experience (2019) (6)
Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms (2020) (6)
Iterative computational design and crystallographic screening identifies potent inhibitors targeting the Nsp3 macrodomain of SARS-CoV-2 (2023) (6)
Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome (2021) (6)
Can polygenic risk scores contribute to cost-effective cancer screening? A systematic review (2021) (6)
Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter (2020) (5)
Venus: Elucidating the Impact of Amino Acid Variants on Protein Function Beyond Structure Destabilisation (2022) (5)
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes (2020) (5)
Iterative computational design and crystallographic screening identifies potent inhibitors targeting the Nsp3 Macrodomain of SARS-CoV-2 (2022) (4)
From Genotype to Phenotype: Clinical Assessment and Participant Perspective of a Secondary Genomic Finding Associated with Long QT Syndrome (2018) (4)
Germline loss-of-function variants in the base-excision repair gene MBD4 cause a Mendelian recessive syndrome of adenomatous colorectal polyposis and acute myeloid leukaemia (2021) (4)
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability (2021) (4)
Germline mutations in the proofreading domains of POLE and POLD 1 predispose to colorectal adenomas and carcinomas (4)
Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency (2022) (3)
Using data from the 100,000 Genomes Project to resolve conflicting interpretations of a recurrent TUBB2A mutation (2021) (3)
Variable skeletal phenotypes associated with biallelic variants in PRKG2 (2021) (3)
Hierarchical probabilistic models for multiple gene/variant associations based on next-generation sequencing data (2017) (3)
COMPREHENSIVE GENOME-WIDE ANALYSIS OF CLL SAMPLES FROM UK 1ST LINE AND RELAPSED/REFRACTORY CLINICAL TRIALS (2013) (3)
The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms (2020) (3)
Session 16: Innovations in reproductive genetics (2013) (3)
Presence of multiple recurrent mutations revealed by targeted NGS confers poor trial outcome of relapsed / refractory CLL (2015) (3)
Structure-based inhibitor optimization for the Nsp3 Macrodomain of SARS-CoV-2. (2022) (2)
The Bartter-Gitelman Spectrum: 50-Year Follow-up With Revision of Diagnosis After Whole-Genome Sequencing (2022) (2)
Mutational Landscape of 118 Relapsed Chronic Lymphocytic Leukemia Clinical Trial Samples; Evidence for a Multiple-Hit Profile Using Targeted Next Generation Sequencing (2014) (2)
Differential genomic and transcriptomic events associated with high-grade transformation of Chronic Lymphocytic Leukemia (2019) (2)
Identifying High-Risk CLL to Predict Early Relapse after FCR Based Treatment Using Whole Genome Sequencing: First Results from the Genomics England CLL Pilot (2016) (2)
SELECTED ORAL COMMUNICATION SESSION, SESSION 17: EMBRYOLOGY AND GENETICS, Monday 4 July 2011 15:15 - 16:30 (2011) (2)
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects (2021) (2)
Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants (2018) (2)
Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1 (2022) (2)
IDENTIFICATION OF NOVEL RECURRENT COPY NUMBER VARIATIONS BY HIGH RESOLUTION COMPARATIVE GENOME HYBRIDISATION (2009) (1)
P1.04 Clinical Diagnostic Implementation of an Innovative Cancer Care Model Based on Comprehensive Molecular Profiling of Tumour-Normal Pairs (2012) (1)
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities. (2022) (1)
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature (2019) (1)
Targeted Capture and Next Generation Sequencing (NGS) of genes involved in Inherited Retinal Degeneration (IRD) (2011) (1)
The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom (2019) (1)
FOXN1 forms higher-order nuclear condensates displaced by mutations causing immunodeficiency (2021) (1)
Bi-allelic MCM10 mutations cause telomere shortening with immune dysfunction and cardiomyopathy (2019) (1)
Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia (2020) (1)
Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans (2020) (1)
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series (2019) (1)
Targeted Gene Profiling Identifies Differential Genetic Make-up Depending On Chronic Lymphocytic Leukaemia Subtype (2012) (1)
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study. (2022) (1)
Discharge of low risk non muscle invasive bladder cancer after one year: Results of a national survey of the adoption of the NICE bladder cancer guidelines recommendations in the UK (2018) (1)
Genomic analysis of sporadic neurological disease using family trios: learning to expect the unexpected (2012) (0)
Title : Germline selection shapes the landscape of human mitochondrial DNA (2019) (0)
SAMHD1, A Putative Tumour Suppressor, Is Recurrently Mutated in Chronic Lymphocytic Leukaemia, and Is Associated with Poor Risk Features (2012) (0)
Do health professionals value genomic testing? A discrete choice experiment in inherited cardiovascular disease (2019) (0)
Evaluation of Clinical Diagnostic Potential of Next Generation Sequencing using Hypertrophic Cardiomyopathy as a Model (2010) (0)
A novel role for CRIM 1 in the corneal response to UV and pterygium development 1 (2018) (0)
Translation of genetics from research into clinical practice; the Oxford Genetics Knowledge Park model (2006) (0)
Mutations in MAST 1 Caus e Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations Graphical (2018) (0)
Whole genome sequence analysis establishes correct diagnosis for a syndromic form of hyperuricaemia (2018) (0)
GREEN-DB: Genomic Regulatory Elements ENcyclopedia (2020) (0)
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations. (2017) (0)
Towards Response Prediction Using Integrated Genomics in Chronic Lymphocytic Leukaemia: Results on 250 First-Line FCR Treated Patients from UK Clinical Trials (2014) (0)
Characterisation of the changing genomic landscape of metastatic melanoma using cell free DNA (2017) (0)
Whole Genome Sequencing, Targeted Deep Sequencing and Copy-Number Analysis Provide a Comprehensive Picture of the Mutational Landscape of 41 Clinically Annotated CLL Cases (2014) (0)
Genomic profiling in pancreatic cancer reveals spatial genetic heterogeneity but spatial transcriptomic homogeneity (2020) (0)
Sequencing of human genomes with nanopore technology (2019) (0)
Translating Genetics Research into a National Health Service Clinical Diagnostic Environment (2010) (0)
Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature (2018) (0)
Whole genome microarrays for the detection of cryptic genomic imbalances in idiopathic learning disability (2005) (0)
Comparison of next generation sequencing (NGS) and aCGH for PGS (2014) (0)
Genome scans in endocrinological diseases (2003) (0)
Quantitative Whole Genome Analysis of Sequential Samples From Patients with B-CLL Identifies Novel Recurrent Copy Number Alterations Involving Critical B-Cell Transcription Factors (2010) (0)
The Identification of Further Minimal Regions of Overlap in Chronic Lymphocytic Leukemia Using High-Resolution SNP Arrays (2014) (0)
RG : annotation of genomic regions with high/low variant calling concordance (2016) (0)
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature (2018) (0)
Mutation in HNRNPK causes a Kabuki-like syndrome with nodular heterotopia (2016) (0)
Current and future molecular testing of cancers: a survey of UK laboratories [Abstract] (2006) (0)
The prevalence and phenotypic range associated with biallelic PKDCC variants. (2023) (0)
Identification of a frame-shifting c.348dupC GNAS mutation in a family with Pseudohypoparathyroidism type 1a (PHP1a) by Whole Genome Sequencing (2018) (0)
Expansion of a diagnostic service for hypertrophic cardiomyopathy using next generation sequencing (2011) (0)
Adopting Genomic Technologies in Health Care: A Cost-Effectiveness Analysis of Microarrays in Learning Disability (2007) (0)
Monitoring circulating tumour DNA in patients receiving selective internal radiation therapy for liver metastases and intrahepatic cholangiocarcinoma (2016) (0)
Circulating tumour DNA in patients with intrahepatic cholangiocarcinoma – Detection of an IDH1 mutation and elevated 2-hydroxyglutarate (2017) (0)
M1032 Managing the Long Term Care of Inflammatory Bowel Disease Patients: the Cost to European Health Care Providers (2010) (0)
PF376 DIFFERENTIAL GENOMIC AND TRANSCRIPTOMIC EVENTS ASSOCIATED WITH HIGH-GRADE TRANSFORMATION OF CHRONIC LYMPHOCYTIC LEUKEMIA (2019) (0)
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans (2020) (0)
Is DNA testing for hypertrophic cardiomyopathy cost-effective? (2006) (0)
Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study (2018) (0)
Identification of Novel Recurrent Copy Number Variations and Regions of Copy-Neutral Loss of Heterozygosity by High Resolution Genomic Array in Pre-Treatment and Relapsed B-CLL. (2009) (0)
The Nature, Prevalence and Clinical Significance of Anderson-Fabry Disease in a UK Hypertrophic Cardiomyopathy (HCM) Cohort (2012) (0)
A case of vitamin D-dependent rickets type 2A (VDDR2A), caused by compound-heterozygous mutations in the vitamin D receptor (VDR) (2018) (0)
Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project (2018) (0)
Sequencing cell free DNA in patients receiving selective internal radiation therapy for colorectal liver metastases. (2017) (0)
A FOXN1 mutation competitively displaces wild-type FOXN1 from higher-order nuclear condensates to cause immunodeficiency (2021) (0)
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics (2019) (0)
Whole-genome sequencing of patients with rare diseases in a national health system (2020) (0)
Hypomorphic Mutation in DOCK8 Causes Combined Immune Deficiency Without Hyper-IGE (2014) (0)
Utility of Whole Genome Sequencing in diagnosing complex disorders: lesson from renal tubular disorders (2018) (0)
University of Southern Denmark Clinical spectrum of STX 1 B-related epileptic disorders (0)
A high throughput screen for active human transposable elements (2018) (0)
A Palindrome-Like Structure on 16p13.3 Is Associated with the Formation of Complex Structural Variations and SRRM2 Haploinsufficiency (2023) (0)
Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature (2019) (0)
De Novo Mutations in DEN R Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation Graphical (2016) (0)
Edinburgh Research Explorer A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss (2012) (0)

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What Schools Are Affiliated With Jenny Taylor ?

Jenny Taylor is affiliated with the following schools: