Researcher
David Thorburn
Murdoch Childrens Research Institute
Statistics
7 papers found
All papers authored by David Thorburn
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2024
Yuyang Chen 
,
Ruebena Dawes ,
Hyung Chul Kim ,
Alicia Ljungdahl,
Sarah L. Stenton ,
Susan Walker ,
Jenny Lord ,
Gabrielle Lemire,
Alexandra C. Martin-Geary ,
Vijay S. Ganesh,
Jialan Ma,
Jamie M. Ellingford,
Erwan Delage ,
Elston N. D’Souza ,
Shan Dong
and 104 other authors
,
Ruebena Dawes ,
Hyung Chul Kim ,
Alicia Ljungdahl,
Sarah L. Stenton ,
Susan Walker ,
Jenny Lord ,
Gabrielle Lemire,
Alexandra C. Martin-Geary ,
Vijay S. Ganesh,
Jialan Ma,
Jamie M. Ellingford,
Erwan Delage ,
Elston N. D’Souza ,
Shan Dong
and 104 other authors
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
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2023
Lindsey Van Haute ,
Emily O’Connor,
Héctor Díaz-Maldonado,
Benjamin Munro,
Kiran Polavarapu ,
Daniella H. Hock ,
Gautham Arunachal,
Alkyoni Athanasiou-Fragkouli,
Mainak Bardhan ,
Magalie Barth,
Dominique Bonneau,
Nicola Brunetti-Pierri ,
Gerarda Cappuccio,
Nikeisha J. Caruana ,
Natalia Dominik
and 26 other authors
,
Emily O’Connor,
Héctor Díaz-Maldonado,
Benjamin Munro,
Kiran Polavarapu ,
Daniella H. Hock ,
Gautham Arunachal,
Alkyoni Athanasiou-Fragkouli,
Mainak Bardhan ,
Magalie Barth,
Dominique Bonneau,
Nicola Brunetti-Pierri ,
Gerarda Cappuccio,
Nikeisha J. Caruana ,
Natalia Dominik
and 26 other authors
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
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2022
Rocio Rius ,
Neal K. Bennett ,
Kaustuv Bhattacharya ,
Lisa G. Riley ,
Zafer Yüksel ,
Luke E. Formosa ,
Alison G. Compton ,
Russell C. Dale,
Mark J. Cowley ,
Velimir Gayevskiy,
Saeed M. Al Tala,
Abdulrahman A. Almehery,
Michael T. Ryan ,
David R. Thorburn ,
Ken Nakamura
and 1 other authors
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,
Neal K. Bennett ,
Kaustuv Bhattacharya ,
Lisa G. Riley ,
Zafer Yüksel ,
Luke E. Formosa ,
Alison G. Compton ,
Russell C. Dale,
Mark J. Cowley ,
Velimir Gayevskiy,
Saeed M. Al Tala,
Abdulrahman A. Almehery,
Michael T. Ryan ,
David R. Thorburn ,
Ken Nakamura
and 1 other authors
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Lauren S. Akesson ,
Rocio Rius ,
Natasha J. Brown ,
Jeremy Rosenbaum,
Sarah Donoghue,
Michael Stormon ,
Charmaine Chai,
Esmeralda Bordador,
Yiran Guo ,
Hakon Hakonarson ,
Alison G. Compton ,
David R. Thorburn ,
Sumudu Amarasekera ,
Justine Marum,
Alisha Monaco
and 5 other authors
Download from onlinelibrary.wiley.com
,
Rocio Rius ,
Natasha J. Brown ,
Jeremy Rosenbaum,
Sarah Donoghue,
Michael Stormon ,
Charmaine Chai,
Esmeralda Bordador,
Yiran Guo ,
Hakon Hakonarson ,
Alison G. Compton ,
David R. Thorburn ,
Sumudu Amarasekera ,
Justine Marum,
Alisha Monaco
and 5 other authors
Download from onlinelibrary.wiley.com
2021
You Wu,
Shanti Balasubramaniam,
Rocio Rius ,
David R. Thorburn ,
John Christodoulou ,
Ilias Goranitis
Download from www.nature.com
,
David R. Thorburn ,
John Christodoulou ,
Ilias Goranitis
Download from www.nature.com
2019
Lauren S. Akesson,
Stefanie Eggers,
Clare J. Love,
Belinda Chong ,
Emma I. Krzesinski,
Natasha J. Brown ,
Tiong Y. Tan,
Christopher M. Richmond,
David R. Thorburn ,
John Christodoulou ,
Matthew F. Hunter ,
Sebastian Lunke ,
Zornitza Stark
Download from www.nature.com
,
Emma I. Krzesinski,
Natasha J. Brown ,
Tiong Y. Tan,
Christopher M. Richmond,
David R. Thorburn ,
John Christodoulou ,
Matthew F. Hunter ,
Sebastian Lunke ,
Zornitza Stark
Download from www.nature.com
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