| Factors influencing success of clinical genome sequencing across a broad spectrum of disorders JC Taylor, HC Martin, S Lise, J Broxholme, JB Cazier, A Rimmer, ... Nature genetics 47 (7), 717-726, 2015 | 401 | 2015 |
| Whole-genome sequencing of patients with rare diseases in a national health system E Turro, WJ Astle, K Megy, S Gräf, D Greene, O Shamardina, HL Allen, ... Nature 583 (7814), 96-102, 2020 | 392 | 2020 |
| Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome SRF Twigg, R Kan, C Babbs, EG Bochukova, SP Robertson, SA Wall, ... Proceedings of the National Academy of Sciences 101 (23), 8652-8657, 2004 | 374 | 2004 |
| Genetic dissection of the α-globin super-enhancer in vivo D Hay, JR Hughes, C Babbs, JOJ Davies, BJ Graham, LLP Hanssen, ... Nature genetics 48 (8), 895-903, 2016 | 366 | 2016 |
| Whole-genome sequencing of a sporadic primary immunodeficiency cohort JED Thaventhiran, H Lango Allen, OS Burren, W Rae, D Greene, ... Nature 583 (7814), 90-95, 2020 | 162 | 2020 |
| The chromatin remodelling factor ATRX suppresses R‐loops in transcribed telomeric repeats DTT Nguyen, HPJ Voon, B Xella, C Scott, D Clynes, C Babbs, H Ayyub, ... EMBO reports 18 (6), 914-928, 2017 | 126 | 2017 |
| Predicting the three-dimensional folding of cis-regulatory regions in mammalian genomes using bioinformatic data and polymer models CA Brackley, JM Brown, D Waithe, C Babbs, J Davies, JR Hughes, ... Genome biology 17 (1), 59, 2016 | 107 | 2016 |
| The craniofacial phenotype of the Crouzon mouse: analysis of a model for syndromic craniosynostosis using three-dimensional MicroCT CA Perlyn, VB DeLeon, C Babbs, D Govier, L Burell, T Darvann, ... The Cleft palate-craniofacial journal 43 (6), 740-747, 2006 | 99 | 2006 |
| Mutations in Krüppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression V Viprakasit, S Ekwattanakit, S Riolueang, N Chalaow, C Fisher, K Lower, ... Blood, The Journal of the American Society of Hematology 123 (10), 1586-1595, 2014 | 94 | 2014 |
| Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I C Babbs, NA Roberts, L Sanchez-Pulido, SJ McGowan, MR Ahmed, ... Haematologica 98 (9), 1383, 2013 | 86 | 2013 |
| Skeletal analysis of the Fgfr3P244R mouse, a genetic model for the Muenke craniosynostosis syndrome SRF Twigg, C Healy, C Babbs, JA Sharpe, WG Wood, PT Sharpe, ... Developmental Dynamics 238 (2), 331-342, 2009 | 85 | 2009 |
| A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias NBA Roy, EA Wilson, S Henderson, K Wray, C Babbs, S Okoli, W Atoyebi, ... British journal of haematology 175 (2), 318-330, 2016 | 83 | 2016 |
| An international registry of survivors with Hb Bart's hydrops fetalis syndrome D Songdej, C Babbs, DR Higgs Blood, The Journal of the American Society of Hematology 129 (10), 1251-1259, 2017 | 74 | 2017 |
| A tissue-specific self-interacting chromatin domain forms independently of enhancer-promoter interactions JM Brown, NA Roberts, B Graham, D Waithe, C Lagerholm, JM Telenius, ... Nature communications 9 (1), 3849, 2018 | 73 | 2018 |
| Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes SRF Twigg, C Babbs, MEP van den Elzen, A Goriely, S Taylor, ... Human molecular genetics 22 (8), 1654-1662, 2013 | 70 | 2013 |
| 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 | 61 | 2018 |
| The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I NBA Roy, C Babbs British journal of haematology 185 (3), 436-449, 2019 | 54 | 2019 |
| Nprl3 is required for normal development of the cardiovascular system MS Kowalczyk, JR Hughes, C Babbs, L Sanchez-Pulido, D Szumska, ... Mammalian genome 23, 404-415, 2012 | 49 | 2012 |
| De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder C Babbs, D Lloyd, AT Pagnamenta, SRF Twigg, J Green, SJ McGowan, ... Journal of medical genetics 51 (11), 737-747, 2014 | 44 | 2014 |
| Mechanical properties of calvarial bones in a mouse model for craniosynostosis M Moazen, E Peskett, C Babbs, E Pauws, MJ Fagan PloS one 10 (5), e0125757, 2015 | 41 | 2015 |
douglas R higgsProfessor of haematology, University of OxfordVerified email at imm.ox.ac.uk
