Lista de obras - Todd E Druley - Dominio Público Uruguay

Adaptation of the targeted capture Methyl-Seq platform for the mouse genome identifies novel tissue-specific DNA methylation patterns of genes involved in neurodevelopment

artículo científico publicado en 2015

Analysis of MDR1 P-glycoprotein conformational changes in permeabilized cells using differential immunoreactivity.

artículo científico publicado en 2001

Cardiac signaling genes exhibit unexpected sequence diversity in sporadic cardiomyopathy, revealing HSPB7 polymorphisms associated with disease

artículo científico publicado en 2009

Clonal haematopoiesis harbouring AML-associated mutations is ubiquitous in healthy adults

artículo científico publicado en 2016

Commentary

artículo científico publicado en 2013

Congenital neurodevelopmental anomalies in pediatric and young adult cancer.

artículo científico publicado en 2017

Detection of rare genomic variants from pooled sequencing using SPLINTER.

artículo científico publicado en 2012

Engraftment of rare, pathogenic donor hematopoietic mutations in unrelated hematopoietic stem cell transplantation

scientific article published on 01 January 2020

Error-corrected sequencing strategies enable comprehensive detection of leukemic mutations relevant for diagnosis and minimal residual disease monitoring

artículo científico publicado en 2020

Excess congenital non-synonymous variation in leukemia-associated genes in MLL- infant leukemia: a Children's Oncology Group report

artículo científico publicado en 2013

Genome wide association and linkage analyses identified three loci-4q25, 17q23.2, and 10q11.21-associated with variation in leukocyte telomere length: the Long Life Family Study.

artículo científico publicado en 2013

Germline Sequencing Identifies Rare Variants in Finnish Subjects with Familial Germ Cell Tumors

artículo científico publicado en 2020

Herbaspirillum species bacteremia in a pediatric oncology patient

artículo científico publicado en 2010

High-throughput discovery of rare insertions and deletions in large cohorts

artículo científico publicado en 2010

Integrated analysis of germline and somatic variants in ovarian cancer.

artículo científico publicado en 2014

Late toxicity of a novel allogeneic stem cell transplant using single fraction total body irradiation for hematologic malignancies in children.

artículo científico publicado en 2015

Loss of KMT2C reprograms the epigenomic landscape in hPSCs resulting in NODAL overexpression and a failure of hemogenic endothelium specification

artículo científico publicado en 2021

Multiplexed direct genomic selection (MDiGS): a pooled BAC capture approach for highly accurate CNV and SNP/INDEL detection

artículo científico publicado en 2014

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1

artículo científico publicado en 2010

NF1 glioblastoma clonal profiling reveals KMT2B mutations as potential somatic oncogenic events

artículo científico publicado en 2019

P-glycoprotein-mediated colchicine resistance in different cell lines correlates with the effects of colchicine on P-glycoprotein conformation.

artículo científico publicado en 2001

Pooled Sequencing of Candidate Genes Implicates Rare Variants in the Development of Asthma Following Severe RSV Bronchiolitis in Infancy

artículo científico publicado en 2015

Population-based rare variant detection via pooled exome or custom hybridization capture with or without individual indexing

artículo científico publicado en 2012

Quantification of rare allelic variants from pooled genomic DNA

artículo científico publicado en 2009

Quantifying ultra-rare pre-leukemic clones via targeted error-corrected sequencing

artículo científico publicado en 2015

Rare missense variants in CHRNB4 are associated with reduced risk of nicotine dependence.

artículo científico publicado en 2011

Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia.

artículo científico publicado en 2014

Scope of hearing loss in Beckwith-Wiedemann syndrome and hemihypertrophy

scientific article published on 24 July 2019

Severe ceftriaxone-induced hemolysis complicated by diffuse cerebral ischemia in a child with sickle cell disease

artículo científico publicado en 2009

Strong concordance between RNA structural and single nucleotide variants identified via next generation sequencing techniques in primary pediatric leukemia and patient-derived xenograft samples

artículo científico publicado en 2020

Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome

artículo científico publicado en 2014

The Zebrafish Xenograft Platform-A Novel Tool for Modeling KSHV-Associated Diseases

artículo científico publicado en 2019

The cyclic AMP pathway is a sex-specific modifier of glioma risk in type I neurofibromatosis patients.

artículo científico publicado en 2014

The evolutionary dynamics and fitness landscape of clonal hematopoiesis

artículo científico publicado en 2020

Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations

artículo científico publicado en 2012

Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia

artículo científico publicado en 2012

Lista de obras de Todd E Druley

Adaptation of the targeted capture Methyl-Seq platform for the mouse genome identifies novel tissue-specific DNA methylation patterns of genes involved in neurodevelopment

Analysis of MDR1 P-glycoprotein conformational changes in permeabilized cells using differential immunoreactivity.

Cardiac signaling genes exhibit unexpected sequence diversity in sporadic cardiomyopathy, revealing HSPB7 polymorphisms associated with disease

Clonal haematopoiesis harbouring AML-associated mutations is ubiquitous in healthy adults

Commentary

Congenital neurodevelopmental anomalies in pediatric and young adult cancer.

Detection of rare genomic variants from pooled sequencing using SPLINTER.

Engraftment of rare, pathogenic donor hematopoietic mutations in unrelated hematopoietic stem cell transplantation

Error-corrected sequencing strategies enable comprehensive detection of leukemic mutations relevant for diagnosis and minimal residual disease monitoring

Excess congenital non-synonymous variation in leukemia-associated genes in MLL- infant leukemia: a Children's Oncology Group report

Genome wide association and linkage analyses identified three loci-4q25, 17q23.2, and 10q11.21-associated with variation in leukocyte telomere length: the Long Life Family Study.

Germline Sequencing Identifies Rare Variants in Finnish Subjects with Familial Germ Cell Tumors

Herbaspirillum species bacteremia in a pediatric oncology patient

High-throughput discovery of rare insertions and deletions in large cohorts

Integrated analysis of germline and somatic variants in ovarian cancer.

Late toxicity of a novel allogeneic stem cell transplant using single fraction total body irradiation for hematologic malignancies in children.

Loss of KMT2C reprograms the epigenomic landscape in hPSCs resulting in NODAL overexpression and a failure of hemogenic endothelium specification

Multiplexed direct genomic selection (MDiGS): a pooled BAC capture approach for highly accurate CNV and SNP/INDEL detection

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1

NF1 glioblastoma clonal profiling reveals KMT2B mutations as potential somatic oncogenic events

P-glycoprotein-mediated colchicine resistance in different cell lines correlates with the effects of colchicine on P-glycoprotein conformation.

Pooled Sequencing of Candidate Genes Implicates Rare Variants in the Development of Asthma Following Severe RSV Bronchiolitis in Infancy

Population-based rare variant detection via pooled exome or custom hybridization capture with or without individual indexing

Quantification of rare allelic variants from pooled genomic DNA

Quantifying ultra-rare pre-leukemic clones via targeted error-corrected sequencing

Rare missense variants in CHRNB4 are associated with reduced risk of nicotine dependence.

Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia.

Scope of hearing loss in Beckwith-Wiedemann syndrome and hemihypertrophy

Severe ceftriaxone-induced hemolysis complicated by diffuse cerebral ischemia in a child with sickle cell disease

Strong concordance between RNA structural and single nucleotide variants identified via next generation sequencing techniques in primary pediatric leukemia and patient-derived xenograft samples

Synonymous ABCA3 variants do not increase risk for neonatal respiratory distress syndrome

The Zebrafish Xenograft Platform-A Novel Tool for Modeling KSHV-Associated Diseases

The cyclic AMP pathway is a sex-specific modifier of glioma risk in type I neurofibromatosis patients.

The evolutionary dynamics and fitness landscape of clonal hematopoiesis

Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations

Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia