Prati
Emily Oates
Naslov
Citirano
Citirano
Godina
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
6532017
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
1862013
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
1832010
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
1172016
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
1092018
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
1032015
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
832013
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
722016
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
652014
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
492022
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
412020
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
372021
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
312013
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
262012
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
242021
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
242019
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
222021
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
222015
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
202016
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
162019
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