檢索結果 - Pengelly, Reuben J

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

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

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

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

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

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A SNP profiling panel for sample tracking in whole-exome sequencing studies 由 Pengelly, Reuben J, Gibson, Jane, Andreoletti, Gaia, Collins, Andrew, Mattocks, Christopher J, Ennis, Sarah

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Erratum to: a SNP profiling panel for sample tracking in whole-exome sequencing studies 由 Pengelly, Reuben J, Gibson, Jane, Andreoletti, Gaia, Collins, Andrew, Mattocks, Christopher J, Ennis, Sarah

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Whole genome sequences are required to fully resolve the linkage disequilibrium structure of human populations 由 Pengelly, Reuben J., Tapper, William, Gibson, Jane, Knut, Marcin, Tearle, Rick, Collins, Andrew, Ennis, Sarah

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Progressive myoclonic epilepsy with Fanconi syndrome 由 Seaby, Eleanor G, Gilbert, Rodney D, Pengelly, Reuben J, Andreoletti, Gaia, Clarke, Antonia, Ennis, Sarah

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Long term follow-up of a family with GUCY2D dominant cone dystrophy 由 Tsokolas, Georgios, Almuhtaseb, Hussein, Griffiths, Helen, Shawkat, Fatima, Pengelly, Reuben J., Sarah, Ennis, Lotery, Andrew

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

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Unexpected Findings in a Child with Atypical Hemolytic Uremic Syndrome: An Example of How Genomics Is Changing the Clinical Diagnostic Paradigm 由 Seaby, Eleanor G., Gilbert, Rodney D., Andreoletti, Gaia, Pengelly, Reuben J., Mercer, Catherine, Hunt, David, Ennis, Sarah

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

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Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R 由 Foulds, Nicola, Pengelly, Reuben J., Hammans, Simon R., Nicoll, James A. R., Ellison, David W., Ditchfield, Adam, Beck, Sarah, Ennis, Sarah

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Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes 由 Pengelly, Reuben J., Arias, Liliana, Martínez, Julio, Upstill-Goddard, Rosanna, Seaby, Eleanor G., Gibson, Jane, Ennis, Sarah, Collins, Andrew, Briceño, Ignacio

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Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort 由 Rae, William, Ward, Daniel, Mattocks, Christopher J, Gao, Yifang, Pengelly, Reuben J, Patel, Sanjay V, Ennis, Sarah, Faust, Saul N, Williams, Anthony P

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

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

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Cold-induced urticarial autoinflammatory syndrome related to factor XII activation 由 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

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

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