| Improving genetic diagnosis in Mendelian disease with transcriptome sequencing BB Cummings, JL Marshall, T Tukiainen, M Lek, S Donkervoort, AR Foley, ... Science translational medicine 9 (386), eaal5209, 2017 | 654 | 2017 |
| Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia EC Oates, AM Rossor, M Hafezparast, M Gonzalez, F Speziani, ... The American Journal of Human Genetics 92 (6), 965-973, 2013 | 186 | 2013 |
| Genome-wide profiling of p63 DNA–binding sites identifies an element that regulates gene expression during limb development in the 7q21 SHFM1 locus EN Kouwenhoven, SJ van Heeringen, JJ Tena, M Oti, BE Dutilh, ... PLoS genetics 6 (8), e1001065, 2010 | 183 | 2010 |
| Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy IT Zaharieva, MG Thor, EC Oates, C Van Karnebeek, G Hendson, E Blom, ... Brain 139 (3), 674-691, 2016 | 117 | 2016 |
| Congenital titinopathy: comprehensive characterization and pathogenic insights EC Oates, KJ Jones, S Donkervoort, A Charlton, S Brammah, JE Smith III, ... Annals of neurology 83 (6), 1105-1124, 2018 | 109 | 2018 |
| Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2 AM Rossor, EC Oates, HK Salter, Y Liu, SM Murphy, R Schule, ... Brain 138 (2), 293-310, 2015 | 103 | 2015 |
| Neuromuscular junction abnormalities in DNM2-related centronuclear myopathy EM Gibbs, NF Clarke, K Rose, EC Oates, R Webster, EL Feldman, ... Journal of molecular medicine 91, 727-737, 2013 | 83 | 2013 |
| Diagnosis and etiology of congenital muscular dystrophy: We are halfway there GL O'Grady, M Lek, SR Lamande, L Waddell, EC Oates, J Punetha, ... Annals of neurology 80 (1), 101-111, 2016 | 72 | 2016 |
| Longitudinal assessment of cognition and T2‐hyperintensities in NF1: An 18‐year study JM Payne, T Pickering, M Porter, EC Oates, N Walia, K Prelog, KN North American journal of medical genetics Part A 164 (3), 661-665, 2014 | 65 | 2014 |
| Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants AM Bournazos, LG Riley, S Bommireddipalli, L Ades, LS Akesson, ... Genetics in medicine 24 (1), 130-145, 2022 | 49 | 2022 |
| Genotype–phenotype correlations in recessive titinopathies M Savarese, A Vihola, EC Oates, R Barresi, C Fiorillo, G Tasca, M Jokela, ... Genetics in Medicine 22 (12), 2029-2040, 2020 | 41 | 2020 |
| Making sense of missense variants in TTN-related congenital myopathies M Rees, R Nikoopour, A Fukuzawa, AL Kho, MA Fernandez-Garcia, ... Acta neuropathologica 141, 431-453, 2021 | 37 | 2021 |
| Young Australian adults with NF1 have poor access to health care, high complication rates, and limited disease knowledge EC Oates, JM Payne, SL Foster, NF Clarke, KN North American Journal of Medical Genetics Part A 161 (4), 659-666, 2013 | 31 | 2013 |
| Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of anterior horn cells EC Oates, S Reddel, ML Rodriguez, LC Gandolfo, M Bahlo, SH Hawke, ... Brain 135 (6), 1714-1723, 2012 | 26 | 2012 |
| Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies GC Dworschak, J Punetha, JC Kalanithy, E Mingardo, HB Erdem, ... Genetics in Medicine 23 (9), 1715-1725, 2021 | 24 | 2021 |
| Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures J Böhm, E Malfatti, E Oates, K Jones, G Brochier, A Boland, JF Deleuze, ... Journal of Medical Genetics 56 (9), 617-621, 2019 | 24 | 2019 |
| WGS and RNA Studies Diagnose Noncoding DMD Variants in Males With High Creatine Kinase LB Waddell, SJ Bryen, BB Cummings, A Bournazos, FJ Evesson, H Joshi, ... Neurology: Genetics 7 (1), e554, 2021 | 22 | 2021 |
| Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine GL O'grady, HA Best, EC Oates, S Kaur, A Charlton, S Brammah, ... European Journal of Human Genetics 23 (6), 883-886, 2015 | 22 | 2015 |
| Targeted re-sequencing emulsion PCR panel for myopathies: results in 94 cases J Punetha, A Kesari, P Uapinyoying, M Giri, NF Clarke, LB Waddell, ... Journal of neuromuscular diseases 3 (2), 209-225, 2016 | 20 | 2016 |
| Recessive MYH7-related myopathy in two families SJ Beecroft, M van de Locht, JM de Winter, CA Ottenheijm, CA Sewry, ... Neuromuscular Disorders 29 (6), 456-467, 2019 | 16 | 2019 |
