| Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children CE French, I Delon, H Dolling, A Sanchis-Juan, O Shamardina, K Mégy, ... Intensive care medicine 45, 627-636, 2019 | 203 | 2019 |
| Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short-and long-read genome sequencing A Sanchis-Juan, J Stephens, CE French, N Gleadall, K Mégy, C Penkett, ... Genome medicine 10, 1-10, 2018 | 152 | 2018 |
| Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data JHR Farmery, ML Smith, AG Lynch Scientific reports 8 (1), 1300, 2018 | 65 | 2018 |
| Bi-allelic mutations in NDUFA6 establish its role in early-onset isolated mitochondrial complex I deficiency CL Alston, J Heidler, MG Dibley, LS Kremer, LS Taylor, C Fratter, ... The American Journal of Human Genetics 103 (4), 592-601, 2018 | 52 | 2018 |
| De novo truncating mutations in WASF1 cause intellectual disability with seizures Y Ito, KJ Carss, ST Duarte, T Hartley, B Keren, MA Kurian, I Marey, ... The American Journal of Human Genetics 103 (1), 144-153, 2018 | 38 | 2018 |
| NIHR BioResource—Rare Disease; Next Generation Children Project. Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children CE French, I Delon, H Dolling, A Sanchis-Juan, O Shamardina, K Mégy, ... Intensive Care Med 45 (5), 627-636, 2019 | 29 | 2019 |
| NIHR BioResource—Rare Disease, Next Generation Children Project, Rowitch, DH, & Raymond, FL (2019). Whole genome sequencing reveals that genetic conditions are frequent in … CE French, I Delon, H Dolling, A Sanchis-Juan, O Shamardina, K Mégy, ... Intensive care medicine 45 (5), 627-636, 0 | 11 | |
| Complex structural variants resolved by short-read and long-read whole genome sequencing in Mendelian disorders A Sanchis-Juan, J Stephens, CE French, N Gleadall, K Mégy, C Penkett, ... BioRxiv, 281683, 2018 | 7 | 2018 |
| Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood CE French, H Dolling, K Mégy, A Sanchis-Juan, A Kumar, I Delon, ... Human Genetics and Genomics Advances 3 (3), 2022 | 5 | 2022 |
| Isabelle Delon, 2 Matthew Wakeling, 4 Lucy Mallin, 5 Shruti Agrawal, 2 Topun Austin, Florence Walston, 6 Soo-Mi Park, 2 Alasdair Parker, 2 Chinthika Piyasena, 7 Kimberley … CE French, H Dolling, K Mégy, A Sanchis-Juan, A Kumar | | 2022 |
| Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort (Nature,(2020), 583, 7814,(90-95), 10.1038/s41586-020-2265-1) A Lango, W Rae, D Greene, E Staples, Z Zhang, E Rivers, CJ Penkett, ... Nature, 2020 | | 2020 |
| Next Generation Children Project: Whole genome sequencing for rapid diagnosis of severely ill children in intensive care CE French, A Sanchis-Juan, I Delon, H Dolling, E Dewhurst, S Agrawal, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 800-801, 2019 | | 2019 |
| 803: WHOLE GENOME SEQUENCE ANALYSIS FOR RAPID DIAGNOSIS OF SEVERELY ILL CHILDREN IN INTENSIVE CARE L Raymond, C French, I Delon, H Dolling, A Sanchis-Juan, T Austin, ... Critical Care Medicine 47 (1), 380, 2019 | | 2019 |
