Lista de obras -

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2005

A high throughput screen for active human transposable elements.

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 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.

artículo científico publicado en 2017

Clinical spectrum of STX1B-related epileptic disorders.

artículo científico publicado en 2019

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

artículo científico publicado en 2014

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

artículo científico publicado en 2018

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

artículo científico publicado en 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

artículo científico publicado en 2005

DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2013

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies ⬇️

artículo científico publicado el 1 de diciembre de 2011

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

artículo científico publicado en 2017

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

artículo científico publicado en 2021

From Genotype to Phenotype

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 2014

Human slack potassium channel mutations increase positive cooperativity between individual channels

artículo científico publicado en 2014

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)

artículo científico publicado en 2016

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 2010

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

artículo científico publicado el 22 de agosto de 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 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.

artículo científico publicado en 2015

Quantification of subclonal distributions of recurrent genomic aberrations in paired pre-treatment and relapse samples from patients with B-cell chronic lymphocytic leukemia ⬇️

artículo científico publicado el 19 de enero de 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

Sequencing of human genomes with nanopore technology

artículo científico publicado en 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.

artículo científico publicado en 2018

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Lista de obras de

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

Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies ⬇️

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.

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

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.

Quantification of subclonal distributions of recurrent genomic aberrations in paired pre-treatment and relapse samples from patients with B-cell chronic lymphocytic leukemia ⬇️

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