Reuben J Pengelly

Loop profile Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2023
Publications (10 Years): 9

Top Venues

Scientific reports

European journal of human genetics : EJHG

Nucleic acids research

ERJ open research

University of Southampton

University of Southampton (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

University of Southampton Sep 4o 2017

United Kingdom

Lecturer in Computational Genetics :: Faculty of Medicine

Education History

University of Southampton Sep 1o 2012 - Dec 4o 2015

United Kingdom

PHD :: Faculty of Medicine

Publications

Dara Bakhtiar, Katarina Vondraskova, Reuben J Pengelly, Martin Chivers, Jana Královičová, Vorechovsky I
Exonic splicing code and coordination of divalent metals in proteins. Nucleic acids research (2023)
Nisreen Rumman, Mahmoud R Fassad, Corine Driessens, Patricia Goggin, Nader Abdelrahman, Adel Adwan, Mutaz Albakri, Jagrati Chopra, Regan Doherty, Bishara Fashho, Grace M Freke, Abdallah Hasaballah, Claire L Jackson, Mai A Mohamed, Reda Abu Nema, Mitali P Patel, Reuben J Pengelly, Ahmad Qaaqour, Bruna Rubbo, N Simon Thomas, James Thompson, Woolf T Walker, Gabrielle Wheway, Hannah M Mitchison, Jane S Lucas
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum. ERJ open research 9 (2) (2023)
Reuben J Pengelly
Early illustrations of the importance of systematic phenotyping. European journal of human genetics : EJHG 30 (10) (2022)
Reuben J Pengelly, Dara Bakhtiar, Ivana Borovská, Jana Královičová, Vorechovsky I
Exonic splicing code and protein binding sites for calcium. Nucleic acids research 50 (10) (2022)
Reuben J Pengelly, Daniel Ward, David Hunt, Christopher Mattocks, Sarah Ennis
Comparison of Mendeliome exome capture kits for use in clinical diagnostics. Scientific reports 10 (1) (2020)
Jörg Scheffel, Niklas A Mahnke, Zonne L M Hofman, Steven de Maat, Jim Wu, Hanna Bonnekoh, Reuben J Pengelly, Sarah Ennis, John W Holloway, Marieluise Kirchner, Philipp Mertins, Martin K Church, Marcus Maurer, Coen Maas, Karoline Krause
Cold-induced urticarial autoinflammatory syndrome related to factor XII activation. Nature communications 11 (1) (2020)
Alejandra Vergara-Lope, Sarah Ennis, Igor Vorechovsky, Reuben J Pengelly, Andrew R Collins
Heterogeneity in the extent of linkage disequilibrium among exonic, intronic, non-coding RNA and intergenic chromosome regions. European journal of human genetics : EJHG 27 (9) (2019)
Alejandra Vergara-Lope, M Reza Jabalameli, Clare Horscroft, Sarah Ennis, Andrew R Collins, Reuben J Pengelly
Linkage disequilibrium maps for European and African populations constructed from whole genome sequence data. Scientific data 6 (1) (2019)
Reuben J Pengelly, Thahmina Alom, Zijian Zhang, David Hunt, Sarah Ennis, Andrew Collins
Evaluating phenotype-driven approaches for genetic diagnoses from exomes in a clinical setting. Scientific reports 7 (1) (2017)

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Publication Activity (10 Years)

Top Topics

Top Venues

Reuben J Pengelly