List of works - Reuben J Pengelly

A SNP profiling panel for sample tracking in whole-exome sequencing studies.

scientific article published on 27 September 2013

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R.

scientific article

Analysis of Mutation and Loss of Heterozygosity by Whole-Exome Sequencing Yields Insights into Pseudomyxoma Peritonei

scientific article published on 22 June 2018

Anticytokine autoantibodies in a patient with a heterozygous NFKB2 mutation.

scientific article published on 7 December 2017

Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort

scientific article published on 15 September 2017

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease

article

Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics

scientific article

Cold-induced urticarial autoinflammatory syndrome related to factor XII activation

scientific article published on 10 January 2020

Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis

scientific article published on 07 September 2015

Commercial chicken breeds exhibit highly divergent patterns of linkage disequilibrium.

scientific article published on 6 July 2016

Comparison of Mendeliome exome capture kits for use in clinical diagnostics

scientific article published on 24 February 2020

Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes

scientific article published on 26 July 2016

Erratum to: a SNP profiling panel for sample tracking in whole-exome sequencing studies.

scientific article published on 7 May 2015

Evaluating phenotype-driven approaches for genetic diagnoses from exomes in a clinical setting.

scientific article published on 18 October 2017

Exome sequence read depth methods for identifying copy number changes

scientific article

Exome sequencing explained: a practical guide to its clinical application

scientific article

Fragment screening using capillary electrophoresis (CEfrag) for hit identification of heat shock protein 90 ATPase inhibitors

scientific article

Gene-dense autosomal chromosomes show evidence for increased selection

scientific article published on 01 October 2019

GenePy - a score for estimating gene pathogenicity in individuals using next-generation sequencing data

scientific article published on 16 May 2019

Heterogeneity in the extent of linkage disequilibrium among exonic, intronic, non-coding RNA and intergenic chromosome regions

scientific article published on 03 May 2019

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).

scientific article published on 30 June 2017

Immuno-genomic profiling of patients with inflammatory bowel disease: a systematic review of genetic and functional in vivo studies of implicated genes

scientific article

Linkage disequilibrium maps for European and African populations constructed from whole genome sequence data

scientific article published on 17 October 2019

Linkage disequilibrium maps to guide contig ordering for genome assembly

scientific article published on 01 February 2019

Long term follow-up of a family with dominant cone dystrophy

scientific article published on 18 December 2018

Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.

scientific article published on 14 July 2016

Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency

scientific article

Precision treatment with sirolimus in a case of activated phosphoinositide 3-kinase δ syndrome.

scientific article

Progressive myoclonic epilepsy with Fanconi syndrome

scientific article published on 6 June 2016

Rapid identification of Saccharomyces eubayanus and its hybrids.

scientific article

Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing.

scientific article published on 6 January 2015

Restriction of an intron size en route to endothermy

scientific article published on 01 March 2021

Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia

scientific article published on 30 August 2018

Sequencing era methods for identifying signatures of selection in the genome

scientific article published on 01 November 2019

Subclonal Evolution of Cancer-Related Gene Mutations in p53 Immunopositive Patches in Human Skin.

scientific article

Understanding the disease genome: gene essentiality and the interplay of selection, recombination and mutation.

scientific article

Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm.

scientific article published on 22 May 2017

Whole genome sequences are required to fully resolve the linkage disequilibrium structure of human populations

scientific article published on 3 September 2015

zalpha: an R package for the identification of regions of the genome under selection

scientific article published on 05 December 2020

List of works by Reuben J Pengelly

A SNP profiling panel for sample tracking in whole-exome sequencing studies.

Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R.

Analysis of Mutation and Loss of Heterozygosity by Whole-Exome Sequencing Yields Insights into Pseudomyxoma Peritonei

Anticytokine autoantibodies in a patient with a heterozygous NFKB2 mutation.

Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort

Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease

Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics

Cold-induced urticarial autoinflammatory syndrome related to factor XII activation

Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis

Commercial chicken breeds exhibit highly divergent patterns of linkage disequilibrium.

Comparison of Mendeliome exome capture kits for use in clinical diagnostics

Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes

Erratum to: a SNP profiling panel for sample tracking in whole-exome sequencing studies.

Evaluating phenotype-driven approaches for genetic diagnoses from exomes in a clinical setting.

Exome sequence read depth methods for identifying copy number changes

Exome sequencing explained: a practical guide to its clinical application

Fragment screening using capillary electrophoresis (CEfrag) for hit identification of heat shock protein 90 ATPase inhibitors

Gene-dense autosomal chromosomes show evidence for increased selection

GenePy - a score for estimating gene pathogenicity in individuals using next-generation sequencing data

Heterogeneity in the extent of linkage disequilibrium among exonic, intronic, non-coding RNA and intergenic chromosome regions

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).

Immuno-genomic profiling of patients with inflammatory bowel disease: a systematic review of genetic and functional in vivo studies of implicated genes

Linkage disequilibrium maps for European and African populations constructed from whole genome sequence data

Linkage disequilibrium maps to guide contig ordering for genome assembly

Long term follow-up of a family with dominant cone dystrophy

Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.

Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency

Precision treatment with sirolimus in a case of activated phosphoinositide 3-kinase δ syndrome.

Progressive myoclonic epilepsy with Fanconi syndrome

Rapid identification of Saccharomyces eubayanus and its hybrids.

Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing.

Restriction of an intron size en route to endothermy

Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia

Sequencing era methods for identifying signatures of selection in the genome

Subclonal Evolution of Cancer-Related Gene Mutations in p53 Immunopositive Patches in Human Skin.

Understanding the disease genome: gene essentiality and the interplay of selection, recombination and mutation.

Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm.

Whole genome sequences are required to fully resolve the linkage disequilibrium structure of human populations

zalpha: an R package for the identification of regions of the genome under selection