基本信息
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Bio
Dr Emily Oates is a Senior Lecturer in Medical Genomics, head of the UNSW Medical Genomics Group, and a neurogenetics consultant for The Sydney Children’s Hospital Network. She has over 14 years of clinical experience in the diagnosis and management of childhood-onset 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.
The UNSW Medical Genomics Group is focused on the discovery of new human disease genes and on the analysis of the clinical-, RNA transcript-, protein- and tissue-level impacts of disease-causing mutations within known and emerging human disease genes. We use this information to increase genetic diagnosis rates for affected individuals and their families, to advance our understanding of the clinical characteristics, natural history, and underlying pathogenesis of the genetic disorders we study, and to develop potential new therapies for these disorders.
The UNSW Medical Genomics Group is focused on the discovery of new human disease genes and on the analysis of the clinical-, RNA transcript-, protein- and tissue-level impacts of disease-causing mutations within known and emerging human disease genes. We use this information to increase genetic diagnosis rates for affected individuals and their families, to advance our understanding of the clinical characteristics, natural history, and underlying pathogenesis of the genetic disorders we study, and to develop potential new therapies for these disorders.
Research Interests
Papers共 65 篇Author StatisticsCo-AuthorSimilar Experts
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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,Neha Wali,Kristen M. Laricchia,Cristina Venturini,Bas Vroling,Sarah L. Stenton,Beryl B. Cummings,Elizabeth Harris,Chiara Marini-Bettolo,Jordi Diaz-Manera, Matt Henderson,Rita Barresi,Jennifer Duff,Eleina M. England, Jane Patrick, Sundos Al-Husayni,Valerie Biancalana,Alan H. Beggs,Istvan Bodi,Shobhana Bommireddipalli,Carsten G. Bönnemann,Anita Cairns, Mei-Ting Chiew,Kristl G. Claeys,Sandra T. Cooper,Mark R. Davis,Sandra Donkervoort,Corrie E. Erasmus,Mahmoud R. Fassad,Casie A. Genetti,Carla Grosmann,Heinz Jungbluth,Erik-Jan Kamsteeg,Xavière Lornage,Wolfgang N. Löscher,Edoardo Malfatti,Adnan Manzur,Pilar Martí,Tiziana E. Mongini,Nuria Muelas,Atsuko Nishikawa,Anne O’Donnell-Luria,Narumi Ogonuki,Gina L. O’Grady,Emily O’Heir,Stéphanie Paquay,Rahul Phadke,Beth A. Pletcher,Norma B. Romero,Meyke Schouten, Snehal Shah,Izelle Smuts,Yves Sznajer,Giorgio Tasca,Robert W. Taylor,Allysa Tuite,Peter Van den Bergh,Grace VanNoy,Nicol C. Voermans,Julia V. Wanschitz,Elizabeth Wraige, Kimihiko Yoshimura,Emily C. Oates,Osamu Nakagawa,Ichizo Nishino,Jocelyn Laporte,Juan J. Vilchez,Daniel G. MacArthur,Anna Sarkozy,Heather J. Cordell,Bjarne Udd,Elisabeth M. Busch-Nentwich,Francesco Muntoni,Volker Straub
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,Christina Liang,Daniel G. MacArthur,Emily C. Oates,Anne O'Donnell-Luria,Gina L. O'Grady,Ikeoluwa A. Osei-Owusu,Haloom Rafehi,Stephen W. Reddel,Richard H. Roxburgh,Monique M. Ryan,Sarah A. Sandaradura, Liam W. Scott,Elise Valkanas,Ben Weisburd,Helen Young,Frances J. Evesson,Leigh B. Waddell,Sandra T. Cooper
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGYno. 5 (2024): 1250-1266
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,Samya Chakravorty,Lukasz Chrzanowski,Christopher S. Hayward,Anne M. Keogh,Peter S. Macdonald,Eleni Giannoulatou,Alex C. Y. Chang,Emily C. Oates,Fadi Charchar,Jonathan G. Seidman,Christine E. Seidman,Madhuri Hegde,Diane Fatkin
Genome Biologyno. 1 (2023): 118-18
Neuromuscular disorders (2022): S42-S42
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Author Statistics
#Papers: 65
#Citation: 1526
H-Index: 17
G-Index: 37
Sociability: 7
Diversity: 2
Activity: 20
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