Publications by authors named "Reuben Pengelly"

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Bibliometric Analysis: Insights Into the Podiatric Medicine Landscape of Diabetic Sensory Peripheral Neuropathy and Genomics.
Benjamin M Jones, Reuben J Pengelly, Alan M Borthwick, Catherine J Bowen

J Foot Ankle Res· September 2025

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Rescue of ciliogenesis and hyperglutamylation mutant phenotype in AGBL5 cell model of retinitis pigmentosa.
Suly S Villa-Vasquez, Liliya Nazlamova, Reuben J Pengelly, David I Wilson, Diana Baralle

BMC Mol Cell Biol· September 2025

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Targeted Genetic Sequencing Analysis of 223 Cases of Pseudomyxoma Peritonei Treated by Cytoreductive Surgery and Hyperthermic Intraperitoneal Chemotherapy Shows Survival Related to GNAS and KRAS Status.
Jane Gibson, Reuben J Pengelly, Amatta Mirandari, Konstantinos Boukas, Sophia Stanford

Cancer Med· October 2024

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Exonic splicing code and coordination of divalent metals in proteins.
Dara Bakhtiar, Katarina Vondraskova, Reuben J Pengelly, Martin Chivers, Jana Kralovicova

Nucleic Acids Res· February 2024

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Pharmacological EZH2 inhibition combined with retinoic acid treatment promotes differentiation and apoptosis in rhabdomyosarcoma cells.
Eleanor O'Brien, Carmen Tse, Ian Tracy, Ian Reddin, Joanna Selfe, Reuben J Pengelly

Clin Epigenetics· October 2023

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The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum.
Nisreen Rumman, Mahmoud R Fassad, Corine Driessens, Patricia Goggin, Nader Abdelrahman, Reuben J Pengelly

ERJ Open Res· March 2023

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Bridging the language gap - A call for the wider use of Human phenotype ontology by non-geneticist clinicians when requesting genomic tests.
Larissa Ange Tchuisseu-Kwangoua, Joseph Kamtchum-Tatuene, Cedrik Tekendo-Ngongang, Reuben J Pengelly, Jay Self

Eur J Med Genet· February 2023

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Early illustrations of the importance of systematic phenotyping.
Reuben J Pengelly

Eur J Hum Genet· October 2022

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Exonic splicing code and protein binding sites for calcium.
Reuben J Pengelly, Dara Bakhtiar, Ivana Borovská, Jana Královičová, Igor Vořechovský

Nucleic Acids Res· June 2022

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A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies.
Liliya Nazlamova, N Simon Thomas, Man-Kim Cheung, Jelmer Legebeke, Jenny Lord, Reuben J Pengelly

Hum Genet· April 2021

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Restriction of an intron size en route to endothermy.
Jana Královičová, Ivana Borovská, Reuben Pengelly, Eunice Lee, Pavel Abaffy

Nucleic Acids Res· March 2021

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Comparison of Mendeliome exome capture kits for use in clinical diagnostics.
Reuben J Pengelly, Daniel Ward, David Hunt, Christopher Mattocks, Sarah Ennis

Sci Rep· February 2020

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Cold-induced urticarial autoinflammatory syndrome related to factor XII activation.
Jörg Scheffel, Niklas A Mahnke, Zonne L M Hofman, Steven de Maat, Jim Wu, Reuben J Pengelly

Nat Commun· January 2020

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Gene-dense autosomal chromosomes show evidence for increased selection.
M Reza Jabalameli, Clare Horscroft, Alejandra Vergara-Lope, Reuben J Pengelly, Andrew Collins

Heredity (Edinb)· December 2019

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Sequencing era methods for identifying signatures of selection in the genome.
Clare Horscroft, Sarah Ennis, Reuben J Pengelly, Timothy J Sluckin, Andrew Collins

Brief Bioinform· November 2019

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Linkage disequilibrium maps for European and African populations constructed from whole genome sequence data.
Alejandra Vergara-Lope, M Reza Jabalameli, Clare Horscroft, Sarah Ennis, Andrew Collins, Reuben J Pengelly

Sci Data· October 2019

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Heterogeneity in the extent of linkage disequilibrium among exonic, intronic, non-coding RNA and intergenic chromosome regions.
Alejandra Vergara-Lope, Sarah Ennis, Igor Vorechovsky, Reuben J Pengelly, Andrew Collins

Eur J Hum Genet· September 2019

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Linkage disequilibrium maps to guide contig ordering for genome assembly.
Reuben J Pengelly, Andrew Collins

Bioinformatics· February 2019

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Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia.
Sunayna Best, Amelia Shoemark, Bruna Rubbo, Mitali P Patel, Mahmoud R Fassad, Reuben Pengelly

Thorax· February 2019

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Long term follow-up of a family with dominant cone dystrophy.
Georgios Tsokolas, Hussein Almuhtaseb, Helen Griffiths, Fatima Shawkat, Reuben J Pengelly

Int J Ophthalmol· December 2018

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Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease.
Christine Gast, Anthony Marinaki, Monica Arenas-Hernandez, Sara Campbell, Eleanor G Seaby, Reuben J Pengelly

BMC Nephrol· October 2018

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Analysis of Mutation and Loss of Heterozygosity by Whole-Exome Sequencing Yields Insights into Pseudomyxoma Peritonei.
Reuben J Pengelly, Babatunde Rowaiye, Karen Pickard, Brendan Moran, Sanjeev Dayal

J Mol Diagn· September 2018

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Anticytokine autoantibodies in a patient with a heterozygous NFKB2 mutation.
Kesava A Ramakrishnan, William Rae, Gabriela Barcenas-Morales, Yifang Gao, Reuben J Pengelly

J Allergy Clin Immunol· April 2018

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Evaluating phenotype-driven approaches for genetic diagnoses from exomes in a clinical setting.
Reuben J Pengelly, Thahmina Alom, Zijian Zhang, David Hunt, Sarah Ennis

Sci Rep· October 2017

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Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort.
William Rae, Daniel Ward, Christopher J Mattocks, Yifang Gao, Reuben J Pengelly

Clin Transl Immunology· September 2017

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