| Breakpoint mapping and array CGH in translocations: comparison of a phenotypically normal and an abnormal cohort J Baptista, C Mercer, E Prigmore, SM Gribble, NP Carter, V Maloney, ... The American Journal of Human Genetics 82 (4), 927-936, 2008 | 193 | 2008 |
| Modeling the pathological long-range regulatory effects of human structural variation with patient-specific hiPSCs M Laugsch, M Bartusel, R Rehimi, H Alirzayeva, A Karaolidou, ... Cell Stem Cell 24 (5), 736-752. e12, 2019 | 106 | 2019 |
| Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing KL Stals, M Wakeling, J Baptista, R Caswell, A Parrish, J Rankin, C Tysoe, ... Prenatal diagnosis 38 (1), 33-43, 2018 | 88 | 2018 |
| NAD (P) HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses NJ Van Bergen, Y Guo, J Rankin, N Paczia, J Becker-Kettern, LS Kremer, ... Brain 142 (1), 50-58, 2019 | 59 | 2019 |
| De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age NS Thomas, JK Morris, J Baptista, BL Ng, JA Crolla, PA Jacobs Journal of medical genetics 47 (2), 112-115, 2010 | 51 | 2010 |
| Molecular cytogenetic analyses of breakpoints in apparently balanced reciprocal translocations carried by phenotypically normal individuals J Baptista, E Prigmore, SM Gribble, PA Jacobs, NP Carter, JA Crolla European journal of human genetics 13 (11), 1205-1212, 2005 | 47 | 2005 |
| Mutations in PIGB cause an inherited GPI biosynthesis defect with an axonal neuropathy and metabolic abnormality in severe cases Y Murakami, TTM Nguyen, N Baratang, PK Raju, A Knaus, S Ellard, ... The American Journal of Human Genetics 105 (2), 384-394, 2019 | 46 | 2019 |
| Recurrent de novo NAHR reciprocal duplications in the ATAD3 gene cluster cause a neurogenetic trait with perturbed cholesterol and mitochondrial metabolism AC Gunning, K Strucinska, MM Oreja, A Parrish, R Caswell, KL Stals, ... The American Journal of Human Genetics 106 (2), 272-279, 2020 | 43 | 2020 |
| Severe intrauterine growth retardation and atypical diabetes associated with a translocation breakpoint disrupting regulation of the insulin-like growth factor 2 gene R Murphy, J Baptista, J Holly, AM Umpleby, S Ellard, LW Harries, J Crolla, ... The Journal of Clinical Endocrinology & Metabolism 93 (11), 4373-4380, 2008 | 38 | 2008 |
| Ultra-high resolution array painting facilitates breakpoint sequencing SM Gribble, D Kalaitzopoulos, DC Burford, E Prigmore, RR Selzer, BL Ng, ... Journal of medical genetics 44 (1), 51-58, 2007 | 36 | 2007 |
| Recurrent TTN metatranscript‐only c.39974–11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy SJ Bryen, LJ Ewans, J Pinner, SC MacLennan, S Donkervoort, D Castro, ... Human mutation 41 (2), 403-411, 2020 | 34 | 2020 |
| THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder M Broly, BV Polevoda, KM Awayda, N Tong, J Lentini, T Besnard, W Deb, ... The American Journal of Human Genetics 109 (4), 587-600, 2022 | 31 | 2022 |
| Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies KW Gripp, SF Smithson, IJ Scurr, J Baptista, A Majumdar, G Pierre, ... European Journal of Human Genetics 29 (9), 1384-1395, 2021 | 31 | 2021 |
| Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome MJA Weerts, K Lanko, FJ Guzmán-Vega, A Jackson, R Ramakrishnan, ... Genetics in Medicine 23 (11), 2122-2137, 2021 | 26 | 2021 |
| Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates MJ MacPherson, SL Erickson, D Kopp, P Wen, MR Aghanoori, S Kedia, ... Cell Reports 35 (10), 2021 | 25 | 2021 |
| Penetrance of pathogenic genetic variants associated with premature ovarian insufficiency S Shekari, S Stankovic, EJ Gardner, G Hawkes, KA Kentistou, ... Nature Medicine 29 (7), 1692-1699, 2023 | 20 | 2023 |
| Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd A Le Fevre, J Baptista, S Ellard, T Overton, A Oliver, E Gradhand, I Scurr European Journal of Medical Genetics 63 (2), 103657, 2020 | 17 | 2020 |
| Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation M Coolen, N Altin, K Rajamani, E Pereira, K Siquier-Pernet, EP Lombardi, ... The American Journal of Human Genetics 109 (5), 909-927, 2022 | 16 | 2022 |
| Study of acute liver failure in children using next generation sequencing technology R Hegarty, P Gibson, M Sambrotta, S Strautnieks, P Foskett, S Ellard, ... The Journal of Pediatrics 236, 124-130, 2021 | 16 | 2021 |
| Expanding clinical presentations due to variations in THOC2 mRNA nuclear export factor R Kumar, E Palmer, AE Gardner, R Carroll, S Banka, O Abdelhadi, ... Frontiers in Molecular Neuroscience 13, 12, 2020 | 16 | 2020 |