| Assessing the performance of the oxford nanopore technologies minion T Laver, J Harrison, PA O’neill, K Moore, A Farbos, K Paszkiewicz, ... Biomolecular detection and quantification 3, 1-8, 2015 | 702 | 2015 |
| Assessing the pathogenicity, penetrance, and expressivity of putative disease-causing variants in a population setting CF Wright, B West, M Tuke, SE Jones, K Patel, TW Laver, RN Beaumont, ... The American Journal of Human Genetics 104 (2), 275-286, 2019 | 206 | 2019 |
| Update of variants identified in the pancreatic β‐cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes E De Franco, C Saint‐Martin, K Brusgaard, AE Knight Johnson, ... Human mutation 41 (5), 884-905, 2020 | 137 | 2020 |
| Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance KA Patel, J Kettunen, M Laakso, A Stančáková, TW Laver, K Colclough, ... Nature communications 8 (1), 888, 2017 | 137 | 2017 |
| A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia, heart defects, and severe hypotonia SE Flanagan, F Vairo, MB Johnson, R Caswell, TW Laver, H Lango Allen, ... Pediatric diabetes 18 (4), 320-323, 2017 | 99 | 2017 |
| YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress E De Franco, M Lytrivi, H Ibrahim, H Montaser, MN Wakeling, F Fantuzzi, ... The Journal of clinical investigation 130 (12), 6338-6353, 2020 | 79 | 2020 |
| Pitfalls of haplotype phasing from amplicon-based long-read sequencing TW Laver, RC Caswell, KA Moore, J Poschmann, MB Johnson, ... Scientific reports 6 (1), 21746, 2016 | 71 | 2016 |
| The common p. R114W HNF4A mutation causes a distinct clinical subtype of monogenic diabetes TW Laver, K Colclough, M Shepherd, K Patel, JAL Houghton, ... Diabetes 65 (10), 3212-3217, 2016 | 70 | 2016 |
| Reduced penetrance of MODY-associated HNF1A/HNF4A variants but not GCK variants in clinically unselected cohorts UL Mirshahi, K Colclough, CF Wright, AR Wood, RN Beaumont, J Tyrrell, ... The American Journal of Human Genetics 109 (11), 2018-2028, 2022 | 52 | 2022 |
| Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY TW Laver, MN Wakeling, O Knox, K Colclough, CF Wright, S Ellard, ... Diabetes 71 (5), 1128-1136, 2022 | 51 | 2022 |
| Noninvasive fetal genotyping by droplet digital PCR to identify maternally inherited monogenic diabetes variants RC Caswell, T Snowsill, JAL Houghton, AJ Chakera, MH Shepherd, ... Clinical chemistry 66 (7), 958-965, 2020 | 46 | 2020 |
| Using referral rates for genetic testing to determine the incidence of a rare disease: the minimal incidence of congenital hyperinsulinism in the UK is 1 in 28,389 D Yau, TW Laver, A Dastamani, S Senniappan, JAL Houghton, G Shaikh, ... PLoS One 15 (2), e0228417, 2020 | 45 | 2020 |
| Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism MN Wakeling, NDL Owens, JR Hopkinson, MB Johnson, JAL Houghton, ... Nature genetics 54 (11), 1615-1620, 2022 | 35 | 2022 |
| SavvyCNV: Genome-wide CNV calling from off-target reads TW Laver, E De Franco, MB Johnson, KA Patel, S Ellard, MN Weedon, ... PLOS Computational Biology 18 (3), e1009940, 2022 | 35 | 2022 |
| Unravelling the genetic causes of mosaic islet morphology in congenital hyperinsulinism JAL Houghton, I Banerjee, G Shaikh, S Jabbar, TW Laver, E Cheesman, ... The Journal of Pathology: Clinical Research 6 (1), 12-16, 2020 | 35 | 2020 |
| Homozygosity mapping provides supporting evidence of pathogenicity in recessive Mendelian disease MN Wakeling, TW Laver, CF Wright, E De Franco, KL Stals, AM Patch, ... Genetics in Medicine 21 (4), 982-986, 2019 | 32 | 2019 |
| The common HNF1A variant I27L is a modifier of age at diabetes diagnosis in individuals with HNF1A-MODY JM Locke, C Saint-Martin, TW Laver, KA Patel, AR Wood, SA Sharp, ... Diabetes 67 (9), 1903-1907, 2018 | 26 | 2018 |
| Assessing the accuracy of quantitative molecular microbial profiling DM O'Sullivan, T Laver, S Temisak, N Redshaw, KA Harris, CA Foy, ... International Journal of Molecular Sciences 15 (11), 21476-21491, 2014 | 26 | 2014 |
| Considerations for the development and application of control materials to improve metagenomic microbial community profiling JF Huggett, T Laver, S Tamisak, G Nixon, DM O’Sullivan, R Elaswarapu, ... Accreditation and Quality Assurance 18, 77-83, 2013 | 26 | 2013 |
| PLIN1 Haploinsufficiency Is Not Associated With Lipodystrophy TW Laver, KA Patel, K Colclough, J Curran, J Dale, N Davis, DB Savage, ... The Journal of Clinical Endocrinology & Metabolism 103 (9), 3225-3230, 2018 | 24 | 2018 |
