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Dr Emily Oates has over 10 years of clinical experience in the diagnosis and management of infants and children with neuromuscular disorders. She also has extensive expertise in the clinical characterisation of new neuromuscular disorders and the analysis of human genomic data for diagnostic and gene discovery purposes.
She currently holds an NHMRC Neil Hamilton Fairley Early Career Fellowship. This fellowship is focused on harnessing state-of-the-art massively parallel DNA and RNA sequencing technologies to improve genetic diagnosis rates for patients with neuromuscular disorders and to identify new disease-causing genes. During her time as ECR Fellow, Dr Oates contributed to the discovery and characterisation of several new neuromuscular disease genes and genetic disorders including BICD2-spinal muscular atrophy and SCN4A-congenital myopathy. In 2018 she led an 84-member-strong collaboration aimed at providing the first definitive description of a new muscle disease, congenital titinopathy.
She currently holds an NHMRC Neil Hamilton Fairley Early Career Fellowship. This fellowship is focused on harnessing state-of-the-art massively parallel DNA and RNA sequencing technologies to improve genetic diagnosis rates for patients with neuromuscular disorders and to identify new disease-causing genes. During her time as ECR Fellow, Dr Oates contributed to the discovery and characterisation of several new neuromuscular disease genes and genetic disorders including BICD2-spinal muscular atrophy and SCN4A-congenital myopathy. In 2018 she led an 84-member-strong collaboration aimed at providing the first definitive description of a new muscle disease, congenital titinopathy.
研究兴趣
论文共 59 篇作者统计合作学者相似作者
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Ana Töpf,Dan Cox,Irina T. Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M. Sealy, Andrei Smolnikov, Richard J. White,Anna Vihola,Marco Savarese, Munise Merteroglu,
biorxiv(2024)
Rhett G Marchant,Samantha J Bryen,Melanie Bahlo,Anita Cairns, Katherine R Chao, Alastair Corbett,Mark R Davis,Vijay S Ganesh,Roula Ghaoui,Kristi J Jones,Andrew J Kornberg,Monkol Lek,
Annals of clinical and translational neurology (2024)
Renee Johnson,Robyn Otway,Ephrem Chin, Claire Horvat, Monique Ohanian,Jon A. L. Wilcox, Zheng Su,Priscilla Prestes,Andrei Smolnikov, Magdalena Soka,Guanglan Guo,Emma Rath,
Lein N.H. Dofash, Gavin Monahan,Emilia Servián-Morilla,Eloy Rivas, Fathimath Faiz,Patricia Sullivan,Emily Oates,Joshua Clayton,Rhonda L. Taylor,Mark R. Davis,Traude Beilharz,Nigel G. Laing,
Human Molecular Geneticsno. 7 (2022): 1127-1136
L. Dofash, G. Monahan, E. Servián-Morilla,E. Rivas, F. Faiz,P. Sullivan,E. Oates,J. Clayton,R. Taylor,M. Davis,T. Beilharz,N. Laing,
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