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Reuben J Pengelly

Showing results (11-20 of 43) with videos related to

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Scientific Reports|October 19, 2017
Evaluating phenotype-driven approaches for genetic diagnoses from exomes in a clinical settingReuben J Pengelly, Thahmina Alom, Zijian Zhang, et al.
Briefings in Bioinformatics|October 3, 2017
Understanding the disease genome: gene essentiality and the interplay of selection, recombination and mutationReuben J Pengelly, Alejandra Vergara-Lope, Dareen Alyousfi, et al.
Heredity|October 3, 2019
Gene-dense autosomal chromosomes show evidence for increased selectionM Reza Jabalameli, Clare Horscroft, Alejandra Vergara-Lope, et al.
Genome Medicine|September 28, 2013
A SNP profiling panel for sample tracking in whole-exome sequencing studiesReuben J Pengelly, Jane Gibson, Gaia Andreoletti, et al.
Genome Medicine|May 8, 2015
Erratum to: a SNP profiling panel for sample tracking in whole-exome sequencing studiesReuben J Pengelly, Jane Gibson, Gaia Andreoletti, et al.
BMC Genomics|September 4, 2015
Whole genome sequences are required to fully resolve the linkage disequilibrium structure of human populationsReuben J Pengelly, William Tapper, Jane Gibson, et al.
JRSM Open|June 14, 2016
Progressive myoclonic epilepsy with Fanconi syndromeEleanor G Seaby, Rodney D Gilbert, Reuben J Pengelly, et al.
European Journal of Medical Genetics|December 20, 2022
Bridging the language gap - A call for the wider use of Human phenotype ontology by non-geneticist clinicians when requesting genomic testsLarissa Ange Tchuisseu-Kwangoua, Joseph Kamtchum-Tatuene, Cedrik Tekendo-Ngongang, et al.
International Journal of Ophthalmology|December 28, 2018
Long term follow-up of a family with <i>GUCY2D</i> dominant cone dystrophyGeorgios Tsokolas, Hussein Almuhtaseb, Helen Griffiths, et al.
Scientific Data|October 19, 2019
Linkage disequilibrium maps for European and African populations constructed from whole genome sequence dataAlejandra Vergara-Lope, M Reza Jabalameli, Clare Horscroft, et al.
Pageof 5

Showing results (11-20 of 43) with videos related to

Sort By:
Pageof 5
Scientific Reports|October 19, 2017
Evaluating phenotype-driven approaches for genetic diagnoses from exomes in a clinical settingReuben J Pengelly, Thahmina Alom, Zijian Zhang, et al.
Briefings in Bioinformatics|October 3, 2017
Understanding the disease genome: gene essentiality and the interplay of selection, recombination and mutationReuben J Pengelly, Alejandra Vergara-Lope, Dareen Alyousfi, et al.
Heredity|October 3, 2019
Gene-dense autosomal chromosomes show evidence for increased selectionM Reza Jabalameli, Clare Horscroft, Alejandra Vergara-Lope, et al.
Genome Medicine|September 28, 2013
A SNP profiling panel for sample tracking in whole-exome sequencing studiesReuben J Pengelly, Jane Gibson, Gaia Andreoletti, et al.
Genome Medicine|May 8, 2015
Erratum to: a SNP profiling panel for sample tracking in whole-exome sequencing studiesReuben J Pengelly, Jane Gibson, Gaia Andreoletti, et al.
BMC Genomics|September 4, 2015
Whole genome sequences are required to fully resolve the linkage disequilibrium structure of human populationsReuben J Pengelly, William Tapper, Jane Gibson, et al.
JRSM Open|June 14, 2016
Progressive myoclonic epilepsy with Fanconi syndromeEleanor G Seaby, Rodney D Gilbert, Reuben J Pengelly, et al.
European Journal of Medical Genetics|December 20, 2022
Bridging the language gap - A call for the wider use of Human phenotype ontology by non-geneticist clinicians when requesting genomic testsLarissa Ange Tchuisseu-Kwangoua, Joseph Kamtchum-Tatuene, Cedrik Tekendo-Ngongang, et al.
International Journal of Ophthalmology|December 28, 2018
Long term follow-up of a family with <i>GUCY2D</i> dominant cone dystrophyGeorgios Tsokolas, Hussein Almuhtaseb, Helen Griffiths, et al.
Scientific Data|October 19, 2019
Linkage disequilibrium maps for European and African populations constructed from whole genome sequence dataAlejandra Vergara-Lope, M Reza Jabalameli, Clare Horscroft, et al.
Pageof 5