Early illustrations of the importance of systematic phenotyping

por Pengelly, Reuben J.
Publicado 2022

Comparison of Mendeliome exome capture kits for use in clinical diagnostics

por Pengelly, Reuben J., Ward, Daniel, Hunt, David, Mattocks, Christopher, Ennis, Sarah
Publicado 2020

Exonic splicing code and protein binding sites for calcium

por Pengelly, Reuben J, Bakhtiar, Dara, Borovská, Ivana, Královičová, Jana, Vořechovský, Igor
Publicado 2022

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

por Pengelly, Reuben J., Alom, Thahmina, Zhang, Zijian, Hunt, David, Ennis, Sarah, Collins, Andrew
Publicado 2017

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

por Pengelly, Reuben J, Gibson, Jane, Andreoletti, Gaia, Collins, Andrew, Mattocks, Christopher J, Ennis, Sarah
Publicado 2013

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

por Pengelly, Reuben J, Gibson, Jane, Andreoletti, Gaia, Collins, Andrew, Mattocks, Christopher J, Ennis, Sarah
Publicado 2015

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

por Pengelly, Reuben J., Tapper, William, Gibson, Jane, Knut, Marcin, Tearle, Rick, Collins, Andrew, Ennis, Sarah
Publicado 2015

Progressive myoclonic epilepsy with Fanconi syndrome

por Seaby, Eleanor G, Gilbert, Rodney D, Pengelly, Reuben J, Andreoletti, Gaia, Clarke, Antonia, Ennis, Sarah
Publicado 2016

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

por Vergara-Lope, Alejandra, Jabalameli, M. Reza, Horscroft, Clare, Ennis, Sarah, Collins, Andrew, Pengelly, Reuben J.
Publicado 2019

Restriction of an intron size en route to endothermy

por Královičová, Jana, Borovská, Ivana, Pengelly, Reuben, Lee, Eunice, Abaffy, Pavel, Šindelka, Radek, Grutzner, Frank, Vořechovský, Igor
Publicado 2021

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

por Seaby, Eleanor G., Gilbert, Rodney D., Andreoletti, Gaia, Pengelly, Reuben J., Mercer, Catherine, Hunt, David, Ennis, Sarah
Publicado 2017

A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies

por Nazlamova, Liliya, Thomas, N. Simon, Cheung, Man-Kim, Legebeke, Jelmer, Lord, Jenny, Pengelly, Reuben J., Tapper, William J., Wheway, Gabrielle
Publicado 2020

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

por Foulds, Nicola, Pengelly, Reuben J., Hammans, Simon R., Nicoll, James A. R., Ellison, David W., Ditchfield, Adam, Beck, Sarah, Ennis, Sarah
Publicado 2015

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

por Pengelly, Reuben J., Arias, Liliana, Martínez, Julio, Upstill-Goddard, Rosanna, Seaby, Eleanor G., Gibson, Jane, Ennis, Sarah, Collins, Andrew, Briceño, Ignacio
Publicado 2016

Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort

por Rae, William, Ward, Daniel, Mattocks, Christopher J, Gao, Yifang, Pengelly, Reuben J, Patel, Sanjay V, Ennis, Sarah, Faust, Saul N, Williams, Anthony P
Publicado 2017

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

por Pengelly, Reuben J, Greville-Heygate, Stephanie, Schmidt, Susanne, Seaby, Eleanor G, Jabalameli, M Reza, Mehta, Sarju G, Parker, Michael J, Goudie, David, Fagotto-Kaufmann, Christine, Mercer, Catherine, Debant, Anne, Ennis, Sarah, Baralle, Diana
Publicado 2016

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

por Gast, Christine, Marinaki, Anthony, Arenas-Hernandez, Monica, Campbell, Sara, Seaby, Eleanor G., Pengelly, Reuben J., Gale, Daniel P., Connor, Thomas M., Bunyan, David J., Hodaňová, Kateřina, Živná, Martina, Kmoch, Stanislav, Ennis, Sarah, Venkat-Raman, G.
Publicado 2018

Pharmacological EZH2 inhibition combined with retinoic acid treatment promotes differentiation and apoptosis in rhabdomyosarcoma cells

por O’Brien, Eleanor, Tse, Carmen, Tracy, Ian, Reddin, Ian, Selfe, Joanna, Gibson, Jane, Tapper, William, Pengelly, Reuben J., Gao, Jinhui, Aladowicz, Ewa, Petts, Gemma, Thway, Khin, Popov, Sergey, Kelsey, Anna, Underwood, Timothy J., Shipley, Janet, Walters, Zoë S.
Publicado 2023

Cold-induced urticarial autoinflammatory syndrome related to factor XII activation

por Scheffel, Jörg, Mahnke, Niklas A., Hofman, Zonne L. M., Maat, Steven de, Wu, Jim, Bonnekoh, Hanna, Pengelly, Reuben J., Ennis, Sarah, Holloway, John W., Kirchner, Marieluise, Mertins, Philipp, Church, Martin K., Maurer, Marcus, Maas, Coen, Krause, Karoline
Publicado 2020

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

por Norman, Chelsea S., O’Gorman, Luke, Gibson, Jane, Pengelly, Reuben J., Baralle, Diana, Ratnayaka, J. Arjuna, Griffiths, Helen, Rose-Zerilli, Matthew, Ranger, Megan, Bunyan, David, Lee, Helena, Page, Rhiannon, Newall, Tutte, Shawkat, Fatima, Mattocks, Christopher, Ward, Daniel, Ennis, Sarah, Self, Jay E.
Publicado 2017