| Collagen (COL4A) mutations are the most frequent mutations underlying adult focal segmental glomerulosclerosis C Gast, RJ Pengelly, M Lyon, DJ Bunyan, EG Seaby, N Graham, ... Nephrology Dialysis Transplantation 31 (6), 961-970, 2016 | 281 | 2016 |
| 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 | 109 | 2015 |
| Exome sequencing explained: a practical guide to its clinical application EG Seaby, RJ Pengelly, S Ennis Briefings in functional genomics 15 (5), 374-384, 2016 | 102 | 2016 |
| 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 | 92 | 2016 |
| Clinical efficacy of a next‐generation sequencing gene panel for primary immunodeficiency diagnostics W Rae, D Ward, C Mattocks, RJ Pengelly, E Eren, SV Patel, SN Faust, ... Clinical Genetics 93 (3), 647-655, 2018 | 71 | 2018 |
| 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 | 65 | 2013 |
| 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 | 64 | 2019 |
| Fragment screening using capillary electrophoresis (CEfrag) for hit identification of heat shock protein 90 ATPase inhibitors C Austin, SN Pettit, SK Magnolo, J Sanvoisin, WJ Chen, SP Wood, ... Journal of biomolecular screening 17 (7), 868-876, 2012 | 62 | 2012 |
| 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 | 58 | 2017 |
| 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 | 53 | 2018 |
| Rapid identification of Saccharomyces eubayanus and its hybrids RJ Pengelly, AE Wheals FEMS Yeast Research 13 (2), 156-161, 2013 | 47 | 2013 |
| Evaluating phenotype-driven approaches for genetic diagnoses from exomes in a clinical setting RJ Pengelly, T Alom, Z Zhang, D Hunt, S Ennis, A Collins Scientific reports 7 (1), 13509, 2017 | 42 | 2017 |
| The potential for next generation sequencing to characterise the genetic variation underlying nonsyndromic cleft lip and palate phenotypes A Collins, L Arias, R Pengelly, I Martinez, S Ennis OA genetics 1 (1), 1-6, 2013 | 42 | 2013 |
| 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 | 37 | 2016 |
| 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 | 35 | 2020 |
| Sequencing era methods for identifying signatures of selection in the genome C Horscroft, S Ennis, RJ Pengelly, TJ Sluckin, A Collins Briefings in Bioinformatics 20 (6), 1997-2008, 2019 | 31 | 2019 |
| 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 | 30 | 2018 |
| 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 | 29 | 2019 |
| Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes RJ Pengelly, L Arias, J Martínez, R Upstill-Goddard, EG Seaby, J Gibson, ... Scientific Reports 6 (1), 30457, 2016 | 29 | 2016 |
| 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 | 28 | 2016 |
Sarah EnnisUniversity of Southampton在 soton.ac.uk 的电子邮件经过验证
