List of works - 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

scientific article

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

scientific article published on April 2001

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

scientific article

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

scientific article

Commentary

scientific article published on 01 January 2013

Congenital neurodevelopmental anomalies in pediatric and young adult cancer.

scientific article

Detection of rare genomic variants from pooled sequencing using SPLINTER.

scientific article

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

scientific article published on 04 March 2020

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

scientific article

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.

scientific article published on January 2013

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

scientific article published on 30 June 2020

Herbaspirillum species bacteremia in a pediatric oncology patient

scientific article

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

scientific article

Integrated analysis of germline and somatic variants in ovarian cancer.

scientific article

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

scientific article

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

scientific article published on 24 July 2021

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

scientific article

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

scientific article

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

scientific article published on 05 November 2019

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

scientific article published on April 2001

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

scientific article published on 20 November 2015

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

scientific article

Quantification of rare allelic variants from pooled genomic DNA

scientific article

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

scientific article published on 3 February 2015

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

scientific article published on 31 October 2011

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

scientific article

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

scientific article published in November 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

scientific article published on 31 March 2020

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

scientific article

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

scientific article published on 20 December 2019

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

scientific article

The evolutionary dynamics and fitness landscape of clonal hematopoiesis

scientific article

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

scientific article published on 23 June 2012

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

scientific article

List of works by 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