about
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorderTBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.DNA polymerase ε and δ exonuclease domain mutations in endometrial cancerCytoplasmic domains of the transporter associated with antigen processing and P-glycoprotein interact with subunits of the proteasomePeriventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 geneGene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.Whole-genome sequencing identifies homozygous BRCA2 deletion guiding treatment in dedifferentiated prostate cancer.Clinical utilisation of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantationSAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage.Human slack potassium channel mutations increase positive cooperativity between individual channelsHuman induced pluripotent stem cell derived erythroblasts can undergo definitive erythropoiesis and co-express gamma and beta globins.Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposisReliableGenome: annotation of genomic regions with high/low variant calling concordance.Targeted Next-Generation Sequencing of Plasma DNA from Cancer Patients: Factors Influencing Consistency with Tumour DNA and Prospective Investigation of Its Utility for Diagnosis.Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficienciesClinical 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.Hierarchical probabilistic models for multiple gene/variant associations based on next-generation sequencing data.Diagnosing idiopathic learning disability: a cost-effectiveness analysis of microarray technology in the National Health Service of the United Kingdom.Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndromeDe Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiation.Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia.Activation of an exonic splice-donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities.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.Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.Whole-genome sequencing of chronic lymphocytic leukaemia reveals distinct differences in the mutational landscape between IgHVmut and IgHVunmut subgroups.Using Genomic Information to Guide Ibrutinib Treatment Decisions in Chronic Lymphocytic Leukaemia: A Cost-Effectiveness AnalysisExploring the potential duty of care in clinical genomics under UK law.Impact of month of birth on the development of autoimmune thyroid disease in the United Kingdom and Europe.Characterisation of the changing genomic landscape of metastatic melanoma using cell free DNA.A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disabilityMetabolic modulator perhexiline corrects energy deficiency and improves exercise capacity in symptomatic hypertrophic cardiomyopathy.A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations.A high throughput screen for active human transposable elements.Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature.Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study.Managing the long term care of inflammatory bowel disease patients: The cost to European health care providers.Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.Clinically actionable mutation profiles in patients with cancer identified by whole-genome sequencing.A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.
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P50
description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Jenny Taylor
@en
Jenny Taylor
@nl
type
label
Jenny Taylor
@en
Jenny Taylor
@nl
prefLabel
Jenny Taylor
@en
Jenny Taylor
@nl
P108
P31
P496
0000-0003-3602-5704