| A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis MY Ahmed, A Al-Khayat, F Al-Murshedi, A Al-Futaisi, BA Chioza, ... Brain 140 (3), 547-554, 2017 | 88 | 2017 |
| PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment M Zollo, M Ahmed, V Ferrucci, V Salpietro, F Asadzadeh, M Carotenuto, ... Brain 140 (4), 940-952, 2017 | 73 | 2017 |
| Effect of listening to Nellie the Elephant during CPR training on performance of chest compressions by lay people: randomised crossover trial L Rawlins, M Woollard, J Williams, P Hallam Bmj 339, 2009 | 61 | 2009 |
| Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies B Yuan, J Neira, D Pehlivan, T Santiago-Sim, X Song, J Rosenfeld, ... Genetics in Medicine 21 (3), 663-675, 2019 | 60 | 2019 |
| Achy breaky makey wakey heart? A randomised crossover trial of musical prompts M Woollard, J Poposki, B McWhinnie, L Rawlins, G Munro, P O'Meara Emergency Medicine Journal 29 (4), 290-294, 2012 | 35 | 2012 |
| An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia LE Rawlins, H Jones, O Wenger, M Aye, J Fasham, GV Harlalka, ... European Journal of Human Genetics 27 (4), 657-662, 2019 | 31 | 2019 |
| MNS1 variant associated with situs inversus and male infertility JS Leslie, LE Rawlins, BA Chioza, OR Olubodun, CG Salter, J Fasham, ... European Journal of Human Genetics 28 (1), 50-55, 2020 | 22 | 2020 |
| TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia LC Tábara, F Al-Salmi, R Maroofian, AM Al-Futaisi, F Al-Murshedi, ... Brain 145 (9), 3095-3107, 2022 | 20 | 2022 |
| Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families S Khan, LE Rawlins, GV Harlalka, M Umair, A Ullah, S Shahzad, M Javed, ... BMC Medical Genetics 20, 1-9, 2019 | 19 | 2019 |
| Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and mice LE Rawlins, H Almousa, S Khan, SC Collins, MP Milev, J Leslie, ... PLoS Genetics 18 (3), e1010114, 2022 | 15 | 2022 |
| De novoSETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasia LE Rawlins, KL Stals, JD Eason, PD Turnpenny Clinical dysmorphology 26 (2), 95-97, 2017 | 9 | 2017 |
| A biallelic SNIP1 Amish founder variant causes a recognizable neurodevelopmental disorder Z Ammous, LE Rawlins, H Jones, JS Leslie, O Wenger, E Scott, J Deline, ... PLoS Genetics 17 (9), e1009803, 2021 | 8 | 2021 |
| DDD study B Yuan, J Neira, D Pehlivan, T Santiago-Sim, X Song, J Rosenfeld, ... Neira, J, 663-675, 2019 | 6 | 2019 |
| HERC2 deficiency activates C-RAF/MKK3/p38 signalling pathway altering the cellular response to oxidative stress J Sala-Gaston, L Pedrazza, J Ramirez, A Martinez-Martinez, LE Rawlins, ... Cellular and Molecular Life Sciences 79 (11), 548, 2022 | 5 | 2022 |
| Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities JS Leslie, R Hjeij, A Vivante, EA Bearce, L Dyer, J Wang, L Rawlins, ... Genetics in Medicine 24 (11), 2249-2261, 2022 | 3 | 2022 |
| Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency J Fasham, S Lin, P Ghosh, FC Radio, EG Farrow, I Thiffault, J Kussman, ... Genetics in Medicine 24 (3), 631-644, 2022 | 3 | 2022 |
| Novel ocular findings with 5p deletion and partial trisomy of distal 4q S Lin, L Rawlins, C Turner, E Doyle, T Sleep Canadian Journal of Ophthalmology 53 (3), e89-e90, 2018 | 3 | 2018 |
| Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes MO Levitin, LE Rawlins, G Sanchez-Andrade, OA Arshad, SC Collins, ... Brain 146 (11), 4766-4783, 2023 | 1 | 2023 |
| Expanding the phenotypic spectrum of Chromosome 16p13. 11 microduplication: A multicentric analysis of 206 patients A Hamad, CA Sherlaw-Sturrock, K Glover, R Salmon, K Low, R Nair, ... European Journal of Medical Genetics 66 (4), 104714, 2023 | 1 | 2023 |
| Mouse and cellular models of KPTN-related disorder implicate mTOR signalling in cognitive and progressive overgrowth phenotypes MO Levitin, LE Rawlins, G Sanchez-Andrade, OA Arshad, SC Collins, ... bioRxiv, 2022.07. 15.500213, 2022 | 1 | 2022 |
