受强制性开放获取政策约束的文章 - Reuben J. Pengelly了解详情
可在其他位置公开访问的文章：27 篇
Exome sequence read depth methods for identifying copy number changes
L Kadalayil, S Rafiq, MJJ Rose-Zerilli, RJ Pengelly, H Parker, D Oscier, ...
Briefings in bioinformatics 16 (3), 380-392, 2015
强制性开放获取政策： Breast Cancer Now, UK
Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly
RJ Pengelly, S Greville-Heygate, S Schmidt, EG Seaby, MR Jabalameli, ...
Journal of medical genetics 53 (11), 735-742, 2016
强制性开放获取政策： National Institute for Health Research, UK, Wellcome Trust
Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia
S Best, A Shoemark, B Rubbo, MP Patel, MR Fassad, M Dixon, ...
Thorax 74 (2), 203-205, 2019
强制性开放获取政策： National Institute for Health Research, UK, Wellcome Trust, European Commission
A SNP profiling panel for sample tracking in whole-exome sequencing studies
RJ Pengelly, J Gibson, G Andreoletti, A Collins, CJ Mattocks, S Ennis
Genome medicine 5, 1-7, 2013
强制性开放获取政策： Wellcome Trust
Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)
CS Norman, L O’Gorman, J Gibson, RJ Pengelly, D Baralle, ...
Scientific reports 7 (1), 4415, 2017
强制性开放获取政策： UK Medical Research Council, National Institute for Health Research, UK
Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease
C Gast, A Marinaki, M Arenas-Hernandez, S Campbell, EG Seaby, ...
BMC nephrology 19, 1-11, 2018
强制性开放获取政策： UK Medical Research Council
Cold-induced urticarial autoinflammatory syndrome related to factor XII activation
J Scheffel, NA Mahnke, ZLM Hofman, S Maat, J Wu, H Bonnekoh, ...
Nature Communications 11 (1), 179, 2020
强制性开放获取政策： German Research Foundation
Precision treatment with sirolimus in a case of activated phosphoinositide 3-kinase delta syndrome
W Rae, K Ramakrishnan, Y Gao, M Ashton-Key, R Pengelly, SV Patel, ...
Clinical Immunology 171, 38-40, 2016
强制性开放获取政策： National Institute for Health Research, UK
GenePy-a score for estimating gene pathogenicity in individuals using next-generation sequencing data
E Mossotto, JJ Ashton, L O’Gorman, RJ Pengelly, RM Beattie, ...
BMC bioinformatics 20, 1-15, 2019
强制性开放获取政策： National Institute for Health Research, UK
Subclonal evolution of cancer-related gene mutations in p53 immunopositive patches in human skin
AA Albibas, MJJ Rose-Zerilli, C Lai, RJ Pengelly, GA Lockett, J Theaker, ...
Journal of Investigative Dermatology 138 (1), 189-198, 2018
强制性开放获取政策： Wellcome Trust
Precision molecular diagnosis defines specific therapy in combined immunodeficiency with megaloblastic anemia secondary to MTHFD1 deficiency
KA Ramakrishnan, RJ Pengelly, Y Gao, M Morgan, SV Patel, EG Davies, ...
The Journal of Allergy and Clinical Immunology: In Practice 4 (6), 1160-1166 …, 2016
强制性开放获取政策： Swiss National Science Foundation, Cancer Research UK, National Institute …
Anticytokine autoantibodies in a patient with a heterozygous NFKB2 mutation
KA Ramakrishnan, W Rae, G Barcenas-Morales, Y Gao, RJ Pengelly, ...
Journal of Allergy and Clinical Immunology 141 (4), 1479-1482. e6, 2018
强制性开放获取政策： Swiss National Science Foundation, Cancer Research UK, National Institute …
Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort
W Rae, D Ward, CJ Mattocks, Y Gao, RJ Pengelly, SV Patel, S Ennis, ...
Clinical & translational immunology 6 (9), e155, 2017
强制性开放获取政策： National Institute for Health Research, UK, Wellcome Trust
Whole genome sequences are required to fully resolve the linkage disequilibrium structure of human populations
RJ Pengelly, W Tapper, J Gibson, M Knut, R Tearle, A Collins, S Ennis
BMC genomics 16, 1-10, 2015
强制性开放获取政策： UK Biotechnology and Biological Sciences Research Council
Analysis of mutation and loss of heterozygosity by whole-exome sequencing yields insights into pseudomyxoma peritonei
RJ Pengelly, B Rowaiye, K Pickard, B Moran, S Dayal, W Tapper, ...
The Journal of Molecular Diagnostics 20 (5), 635-642, 2018
强制性开放获取政策： Cancer Research UK
Linkage disequilibrium maps for European and African populations constructed from whole genome sequence data
A Vergara-Lope, MR Jabalameli, C Horscroft, S Ennis, A Collins, ...
Scientific Data 6 (1), 208, 2019
强制性开放获取政策： UK Engineering and Physical Sciences Research Council
Commercial chicken breeds exhibit highly divergent patterns of linkage disequilibrium
RJ Pengelly, AA Gheyas, R Kuo, E Mossotto, EG Seaby, DW Burt, S Ennis, ...
Heredity 117 (5), 375-382, 2016
强制性开放获取政策： UK Biotechnology and Biological Sciences Research Council
Understanding the disease genome: gene essentiality and the interplay of selection, recombination and mutation
RJ Pengelly, A Vergara-Lope, D Alyousfi, MR Jabalameli, A Collins
Briefings in bioinformatics 20 (1), 267-273, 2019
强制性开放获取政策： UK Engineering and Physical Sciences Research Council
The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum
N Rumman, MR Fassad, C Driessens, P Goggin, N Abdelrahman, ...
ERJ Open Research 9 (2), 2023
强制性开放获取政策： National Institute for Health Research, UK, Wellcome Trust, European Commission
Immuno-genomic profiling of patients with inflammatory bowel disease: a systematic review of genetic and functional in vivo studies of implicated genes
T Coelho, G Andreoletti, JJ Ashton, RJ Pengelly, Y Gao, A RamaKrishnan, ...
Inflammatory bowel diseases 20 (10), 1813-1819, 2014
强制性开放获取政策： National Institute for Health Research, UK
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