All papers authored by John Christodoulou
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2023
Berardo Rinaldi 
,
Allan Bayat ,
Linda G. Zachariassen,
Jia-Hui Sun,
Yu-Han Ge,
Dan Zhao,
Kristine Bonde,
Laura H. Madsen,
Ilham Abdimunim Ali Awad,
Duygu Bagiran,
Amal Sbeih,
Syeda Maidah Shah,
Shaymaa El-Sayed,
Signe M. Lyngby,
Miriam G. Pedersen
and 72 other authors
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,
Allan Bayat ,
Linda G. Zachariassen,
Jia-Hui Sun,
Yu-Han Ge,
Dan Zhao,
Kristine Bonde,
Laura H. Madsen,
Ilham Abdimunim Ali Awad,
Duygu Bagiran,
Amal Sbeih,
Syeda Maidah Shah,
Shaymaa El-Sayed,
Signe M. Lyngby,
Miriam G. Pedersen
and 72 other authors
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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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Nicole J. Van Bergen ,
Karen Gunanayagam,
Adam M. Bournazos ,
Adhish S. Walvekar,
Marc O. Warmoes,
Liana N. Semcesen,
Sebastian Lunke,
Shobhana Bommireddipalli,
Tim Sikora,
Myrto Patraskaki ,
Dean L. Jones,
Denisse Garza,
Dale Sebire ,
Samuel Gooley,
Catriona A. McLean
and 7 other authors
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,
Karen Gunanayagam,
Adam M. Bournazos ,
Adhish S. Walvekar,
Marc O. Warmoes,
Liana N. Semcesen,
Sebastian Lunke,
Shobhana Bommireddipalli,
Tim Sikora,
Myrto Patraskaki ,
Dean L. Jones,
Denisse Garza,
Dale Sebire ,
Samuel Gooley,
Catriona A. McLean
and 7 other authors
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Afshin Saffari,
Tracy Lau ,
Homa Tajsharghi,
Ehsan Ghayoor Karimiani,
Ariana Kariminejad,
Stephanie Efthymiou ,
Giovanni Zifarelli,
Tipu Sultan,
Mehran Beiraghi Toosi,
Sahar Sedighzadeh,
Victoria Mok Siu,
Juan Darío Ortigoza-Escobar,
Aisha M. AlShamsi,
Shahnaz Ibrahim,
Nouriya Abbas Al-Sannaa
and 87 other authors
,
Homa Tajsharghi,
Ehsan Ghayoor Karimiani,
Ariana Kariminejad,
Stephanie Efthymiou ,
Giovanni Zifarelli,
Tipu Sultan,
Mehran Beiraghi Toosi,
Sahar Sedighzadeh,
Victoria Mok Siu,
Juan Darío Ortigoza-Escobar,
Aisha M. AlShamsi,
Shahnaz Ibrahim,
Nouriya Abbas Al-Sannaa
and 87 other authors
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
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Sean Massey ,
Yiran Guo,
Lisa G. Riley,
Nicole J. Van Bergen,
Sarah A. Sandaradura,
Elizabeth McCusker,
Michel Tchan ,
Christel Thauvin-Robinet,
Quentin Thomas ,
Thibault Moreau,
Mark Davis,
Daphne Smits,
Grazia M. S. Mancini,
Hakon Hakonarson,
Sandra Cooper
and 1 other authors
,
Yiran Guo,
Lisa G. Riley,
Nicole J. Van Bergen,
Sarah A. Sandaradura,
Elizabeth McCusker,
Michel Tchan ,
Christel Thauvin-Robinet,
Quentin Thomas ,
Thibault Moreau,
Mark Davis,
Daphne Smits,
Grazia M. S. Mancini,
Hakon Hakonarson,
Sandra Cooper
and 1 other authors
Expanding the Allelic Heterogeneity ofANO10-Associated Autosomal Recessive Cerebellar Ataxia
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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
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,
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
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Nicole J. Van Bergen ,
Daniella H. Hock ,
Lucy Spencer,
Sean Massey,
Tegan Stait,
Zornitza Stark ,
Sebastian Lunke ,
Ain Roesley,
Heidi Peters,
Joy Yaplito Lee,
Anna Le Fevre,
Oliver Heath ,
Cristina Mignone,
Joseph Yuan-Mou Yang ,
Monique M. Ryan
and 9 other authors
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,
Daniella H. Hock ,
Lucy Spencer,
Sean Massey,
Tegan Stait,
Zornitza Stark ,
Sebastian Lunke ,
Ain Roesley,
Heidi Peters,
Joy Yaplito Lee,
Anna Le Fevre,
Oliver Heath ,
Cristina Mignone,
Joseph Yuan-Mou Yang ,
Monique M. Ryan
and 9 other authors
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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
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Dong Li ,
Qin Wang,
Naihua N. Gong ,
Alina Kurolap ,
Hagit Baris Feldman ,
Nikolas Boy ,
Melanie Brugger ,
Katheryn Grand ,
Kirsty McWalter ,
Maria J. Guillen Sacoto ,
Emma Wakeling ,
Jane Hurst,
Michael E. March ,
Elizabeth J. Bhoj ,
Małgorzata J. M. Nowaczyk
and 23 other authors
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,
Qin Wang,
Naihua N. Gong ,
Alina Kurolap ,
Hagit Baris Feldman ,
Nikolas Boy ,
Melanie Brugger ,
Katheryn Grand ,
Kirsty McWalter ,
Maria J. Guillen Sacoto ,
Emma Wakeling ,
Jane Hurst,
Michael E. March ,
Elizabeth J. Bhoj ,
Małgorzata J. M. Nowaczyk
and 23 other authors
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2020
Simranpreet Kaur ,
Nicole J. Van Bergen ,
Kristen J. Verhey ,
Cameron J. Nowell ,
Breane Budaitis ,
Yang Yue ,
Carolyn Ellaway ,
Nicola Brunetti‐Pierri ,
Gerarda Cappuccio ,
Irene Bruno ,
Lia Boyle ,
Vincenzo Nigro,
Annalaura Torella ,
Tony Roscioli ,
Mark J. Cowley
and 8 other authors
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,
Nicole J. Van Bergen ,
Kristen J. Verhey ,
Cameron J. Nowell ,
Breane Budaitis ,
Yang Yue ,
Carolyn Ellaway ,
Nicola Brunetti‐Pierri ,
Gerarda Cappuccio ,
Irene Bruno ,
Lia Boyle ,
Vincenzo Nigro,
Annalaura Torella ,
Tony Roscioli ,
Mark J. Cowley
and 8 other authors
Download from onlinelibrary.wiley.com
Simranpreet Kaur ,
Nicole J. Van Bergen ,
Kristen J. Verhey ,
Cameron J. Nowell ,
Breane Budaitis ,
Yang Yue ,
Carolyn Ellaway ,
Nicola Brunetti‐Pierri ,
Gerarda Cappuccio ,
Irene Bruno ,
Lia Boyle ,
Vincenzo Nigro,
Annalaura Torella ,
Tony Roscioli ,
Mark J. Cowley
and 8 other authors
Download from api.wiley.com
,
Nicole J. Van Bergen ,
Kristen J. Verhey ,
Cameron J. Nowell ,
Breane Budaitis ,
Yang Yue ,
Carolyn Ellaway ,
Nicola Brunetti‐Pierri ,
Gerarda Cappuccio ,
Irene Bruno ,
Lia Boyle ,
Vincenzo Nigro,
Annalaura Torella ,
Tony Roscioli ,
Mark J. Cowley
and 8 other authors
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Stephanie Best ,
Zornitza Stark,
Peta Phillips,
You Wu,
Janet C. Long ,
Natalie Taylor,
Jeffrey Braithwaite,
John Christodoulou ,
Ilias Goranitis
,
Zornitza Stark,
Peta Phillips,
You Wu,
Janet C. Long ,
Natalie Taylor,
Jeffrey Braithwaite,
John Christodoulou ,
Ilias Goranitis
Clinical genomic testing: what matters to key stakeholders?
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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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