|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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
|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), 2021
|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
|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
|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
|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