Mark A Corbett (M A Corbett)

ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 25

Top Venues

Nature communications

NPJ genomic medicine

Epilepsia

Human mutation

University of Sydney (PHD)

This page only lists publications with an associated author ORCID identifier.

Education History

University of Sydney

Australia

PHD

University of Adelaide

Australia

BSC

Publications

Rudrarup Bhattacharjee, Lachlan A Jolly, Mark A Corbett, Ing Chee Wee, Sushma R Rao, Alison E Gardner, Tarin Ritchie, Eline J H van Hugte, Ummi Ciptasari, Sandra G Piltz, Jacqueline E Noll, Nazzmer Nazri, Clare L van Eyk, Melissa White, Dani Fornarino, Cathryn Poulton, Gareth S Baynam, Lyndsey E Collins-Praino, Marten F Snel, Nael Nadif Kasri, Kim M Hemsley, Paul Q Thomas, Raman Kumar, Jozef Gecz
Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment. Nature communications 15 (1) (2024)
Rudrarup Bhattacharjee, Lachlan A Jolly, Mark A Corbett, Ing Chee Wee, Sushma R Rao, Alison E Gardner, Tarin Ritchie, Eline J H van Hugte, Ummi Ciptasari, Sandra G Piltz, Jacqueline E Noll, Nazzmer Nazri, Clare L van Eyk, Melissa White, Dani Fornarino, Cathryn Poulton, Gareth S Baynam, Lyndsey E Collins-Praino, Marten F Snel, Nael Nadif Kasri, Kim M Hemsley, Paul Q Thomas, Raman Kumar, Jozef Gecz
Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment. Nature communications 15 (1) (2024)
Rudrarup Bhattacharjee, Lachlan A Jolly, Mark A Corbett, Ing Chee Wee, Sushma R Rao, Alison E Gardner, Tarin Ritchie, Eline J H van Hugte, Ummi Ciptasari, Sandra G Piltz, Jacqueline E Noll, Nazzmer Nazri, Clare L van Eyk, Melissa White, Dani Fornarino, Cathryn Poulton, Gareth S Baynam, Lyndsey E Collins-Praino, Marten F Snel, Nael Nadif Kasri, Kim M Hemsley, Paul Q Thomas, Raman Kumar, Jozef Gecz
Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment. Nature communications 15 (1) (2024)
Rudrarup Bhattacharjee, Lachlan A Jolly, Mark A Corbett, Ing Chee Wee, Sushma R Rao, Alison E Gardner, Tarin Ritchie, Eline J H van Hugte, Ummi Ciptasari, Sandra G Piltz, Jacqueline E Noll, Nazzmer Nazri, Clare L van Eyk, Melissa White, Dani Fornarino, Cathryn Poulton, Gareth S Baynam, Lyndsey E Collins-Praino, Marten F Snel, Nael Nadif Kasri, Kim M Hemsley, Paul Q Thomas, Raman Kumar, Jozef Gecz
Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment. Nature communications 15 (1) (2024)
Rudrarup Bhattacharjee, Lachlan A Jolly, Mark A Corbett, Ing Chee Wee, Sushma R Rao, Alison E Gardner, Tarin Ritchie, Eline J H van Hugte, Ummi Ciptasari, Sandra G Piltz, Jacqueline E Noll, Nazzmer Nazri, Clare L van Eyk, Melissa White, Dani Fornarino, Cathryn Poulton, Gareth S Baynam, Lyndsey E Collins-Praino, Marten F Snel, Nael Nadif Kasri, Kim M Hemsley, Paul Q Thomas, Raman Kumar, Jozef Gecz
Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment. Nature communications 15 (1) (2024)
Mark A Corbett, Christel Depienne, Liana Veneziano, Karl Martin Klein, Francesco Brancati, Renzo Guerrini, Federico Zara, Shoji Tsuji, Jozef Gecz
Genetics of Familial Adult Myoclonus Epilepsy: From linkage studies to non-coding repeat expansions. Epilepsia (2023)
Angela T Morgan, Thomas S Scerri, Adam P Vogel, Christopher A Reid, Mara Quach, Victoria E Jackson, Chaseley McKenzie, Emma L Burrows, Mark F Bennett, Samantha J Turner, Sheena Reilly, Sarah E Horton, Susan Block, Elaina Kefalianos, Carlos Frigerio-Domingues, Eduardo Sainz, Kristin A Rigbye, Travis J Featherby, Kay L Richards, Andrew Kueh, Marco J Herold, Mark A Corbett, Jozef Gecz, Ingo Helbig, Daisy G Y Thompson-Lake, Frédérique J Liégeois, Robert J Morell, Andrew Hung, Dennis Drayna, Ingrid E Scheffer, David K Wright, Melanie Bahlo, Michael Stephen Hildebrand
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40. Brain : a journal of neurology (2023)
Christel Depienne, Arn M J M van den Maagdenberg, Theresa Kühnel, Hiroyuki Ishiura, Mark A Corbett, Shoji Tsuji
Insights into FAME pathogenesis: how the same repeat expansion in six unrelated genes may lead to cortical excitability. Epilepsia (2023)
Thuong T Ha, Rosemary Burgess, Morgan Newman, Ching Moey, Simone A Mandelstam, Alison E Gardner, Atma M Ivancevic, Duyen Pham, Raman Kumar, Nicholas Smith, Chirag Patel, Stephen Malone, Monique M Ryan, Sophie Calvert, Clare L van Eyk, Michael Lardelli, Samuel Frank Berkovic, Richard J Leventer, Linda J Richards, Ingrid E Scheffer, Jozef Gecz, Mark A Corbett
Aicardi Syndrome Is a Genetically Heterogeneous Disorder. Genes 14 (8) (2023)
Christel Depienne, Arn M J M van den Maagdenberg, Theresa Kühnel, Hiroyuki Ishiura, Mark A Corbett, Shoji Tsuji
Insights into familial adult myoclonus epilepsy pathogenesis: How the same repeat expansion in six unrelated genes may lead to cortical excitability. Epilepsia (2023)
Mark F Bennett, Michael S Hildebrand, Sayaka Kayumi, Mark A Corbett, Sachin Gupta, Zimeng Ye, Michael Krivanek, Rosemary Burgess, Olivia J Henry, John A Damiano, Amber Boys, Jozef Gecz, Melanie Bahlo, Ingrid Eileen Scheffer, Samuel Frank Berkovic
Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy. Neurology. Genetics 8 (1) (2022)
Raman Kumar, Mark A Corbett, Nicholas J C Smith, Daniella Helena Hock, Zoya Kikhtyak, Liana N Semcesen, Atsushi Morimoto, Sangmoon Lee, David Arthur Stroud, Joseph G Gleeson, Eric A Haan, Jozef Gecz
Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder. NPJ genomic medicine 7 (1) (2022)
Michael J Field, Raman Kumar, Anna Hackett, Sayaka Kayumi, Cheryl A Shoubridge, Lisa J Ewans, Atma M Ivancevic, Tracy Dudding-Byth, Renée Carroll, Thessa Kroes, Alison E Gardner, Patricia Sullivan, Thuong T Ha, Charles E Schwartz, Mark J Cowley, Marcel E Dinger, Elizabeth E Palmer, Louise Christie, Marie Shaw, Tony Roscioli, Jozef Gecz, Mark A Corbett
Different types of disease-causing noncoding variants revealed by genomic and gene expression analyses in families with X-linked intellectual disability. Human mutation 42 (7) (2021)
Clare L van Eyk, D L Webber, A E Minoche, Luis Alberto Pérez-Jurado, Mark A Corbett, A E Gardner, Jesia G Berry, K Harper, A H MacLennan, Jozef Gecz
Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing. NPJ genomic medicine 6 (1) (2021)
Duyen H Pham, Melissa R Pitman, Raman Kumar, Lachlan A Jolly, Renee Schulz, Alison E Gardner, Rebekah de Nys, Sarah E Heron, Mark A Corbett, Kavitha Kothur, Deepak Gill, Sulekha Rajagopalan, Kristy L Kolc, Benjamin J Halliday, Stephen P Robertson, Brigid M Regan, Heidi E Kirsch, Samuel F Berkovic, Ingrid E Scheffer, Stuart M Pitson, Slave Petrovski, Jozef Gecz
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants. Human mutation 42 (8) (2021)
Johanna L Jones, Mark A Corbett, Elise Yeaman, Duran Zhao, Jozef Gecz, Robert J Gasperini, Jac C Charlesworth, David A Mackey, James E Elder, Jamie E Craig, Kathryn P Burdon
A 127 kb truncating deletion of PGRMC1 is a novel cause of X-linked isolated paediatric cataract. European journal of human genetics : EJHG 29 (8) (2021)
Mark F Bennett, Karen L Oliver, Brigid M Regan, Susannah T Bellows, Amy L Schneider, Haloom Rafehi, Neblina Sikta, Douglas E Crompton, Matthew J Coleman, Michael S Hildebrand, Mark A Corbett, Thessa Kroes, Jozef Gecz, Ingrid E Scheffer, Samuel Frank Berkovic, Melanie Bahlo
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families. European journal of human genetics : EJHG 28 (7) (2020)
Lachlan A Jolly, Euan Parnell, Alison E Gardner, Mark A Corbett, Luis Alberto Pérez-Jurado, Marie Shaw, Gaetan Lesca, Catherine Keegan, Michael C Schneider, Emily Griffin, Felicitas Maier, Courtney Kiss, Andrea Guerin, Kathleen Crosby, Kenneth Rosenbaum, Pranoot Tanpaiboon, Sandra Whalen, Boris Keren, Julie McCarrier, Donald Basel, Simon Sadedin, Susan M White, Martin B Delatycki, Tjitske Kleefstra, Sébastien Küry, Alfredo Brusco, Elena Sukarova-Angelovska, Slavica Trajkova, Sehoun Yoon, Stephen A Wood, Michael Piper, Peter Penzes, Jozef Gecz
Missense variant contribution to USP9X-female syndrome. NPJ genomic medicine 5 (1) (2020)
Sheng Chih Jin, Sara A Lewis, Somayeh Bakhtiari, Xue Zeng, Michael C Sierant, Sheetal Shetty, Sandra M Nordlie, Aureliane Elie, Mark A Corbett, Bethany Y Norton, Clare L van Eyk, Shozeb M Haider, Brandon S Guida, Helen Magee, James Liu, Stephen Pastore, John B Vincent, Janice Brunstrom-Hernandez, Antigone S Papavasiliou, Michael Collingwood Fahey, Jesia G Berry, Kelly Harper, Chongchen Zhou, Junhui Zhang, Boyang Li, Hongyu Zhao, Jennifer Heim, Dani L Webber, Mahalia S B Frank, Lei Xia, Yiran Xu, Dengna Zhu, Bohao Zhang, Amar H Sheth, James R Knight, Christopher Castaldi, Irina R Tikhonova, Francesc Lopez, Boris Keren, Sandra Whalen, Julien Buratti, Diane Doummar, Megan Cho, Kyle Retterer, Francisca Millan, Yangong Wang, Jeff L Waugh, Lance Rodan, Julie S Cohen, Ali Fatemi, Angela E Lin, John P Phillips, Timothy Feyma, Suzanna C MacLennan, Spencer W Vaughan, Kylie E Crompton, Susan M Reid, Dinah Susan Reddihough, Qing Shang, Chao Gao, Iona Novak, Nadia Badawi, Yana A Wilson, Sarah J McIntyre, Shrikant M Mane, Xiaoyang Wang, David J Amor, Daniela C Zarnescu, Qiongshi Lu, Qinghe Xing, Changlian Zhu, Kaya Bilguvar, Sergio Padilla-Lopez, Richard P Lifton, Jozef Gecz, Alastair H MacLennan, Michael C Kruer
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nature genetics 52 (10) (2020)
Ryan Pham, Ben-Willem J Mol, Jozef Gecz, Alastair H MacLennan, Suzanna C MacLennan, Mark A Corbett, Clare L van Eyk, Dani L Webber, Lyle J Palmer, Jesia G Berry
Definition and diagnosis of cerebral palsy in genetic studies: a systematic review. Developmental medicine and child neurology 62 (9) (2020)
Clare L van Eyk, Mark A Corbett, Mahalia S B Frank, D L Webber, M Newman, Jesia G Berry, K Harper, B P Haines, G McMichael, J A Woenig, A H MacLennan, Jozef Gecz
Targeted resequencing identifies genes with recurrent variation in cerebral palsy. NPJ genomic medicine 4 (2019)
Rahel T Florian, Florian Kraft, Elsa Leitão, Sabine Kaya, Stephan Klebe, Eloi Magnin, Anne-Fleur van Rootselaar, Julien Buratti, Theresa Kühnel, Christopher Schröder, Sebastian Giesselmann, Nikolai Tschernoster, Janine Altmueller, Anaide Lamiral, Boris Keren, Caroline Nava, Delphine Bouteiller, Sylvie Forlani, Ludmila Jornea, Regina Kubica, Tao Ye, Damien Plassard, Bernard Jost, Vincent Meyer, Jean-François Deleuze, Yannick Delpu, Mario D M Avarello, Lisanne S Vijfhuizen, Gabrielle Rudolf, Edouard Hirsch, Thessa Kroes, Philipp S Reif, Felix Rosenow, Christos Ganos, Marie Vidailhet, Lionel Thivard, Alexandre Mathieu, Thomas Bourgeron, Ingo Kurth, Haloom Rafehi, Laura Steenpass, Bernhard Horsthemke, null null, Eric LeGuern, Karl Martin Klein, Pierre M Labauge, Mark F Bennett, Melanie Bahlo, Jozef Gecz, Mark A Corbett, Marina A J Tijssen, Arn M J M van den Maagdenberg, Christel Depienne
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3. Nature communications 10 (1) (2019)
Mark A Corbett, Thessa Kroes, Liana Veneziano, Mark F Bennett, Rahel Florian, Amy L Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa, Aaron Wenger, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid Regan, Douglas Crompton, Anne-Fleur van Rootselaar, Anthony Correll, Rachael Catford, Francesca Bisulli, Shreyasee Chakraborty, Sara Baldassari, Paolo Tinuper, Kirston Barton, Shaun Carswell, Martin Smith, Alfredo Berardelli, Renee Carroll, Alison Gardner, Kathryn L Friend, Ilan Blatt, Michele Iacomino, Carlo Di Bonaventura, Salvatore Striano, Julien Buratti, Boris Keren, Caroline Nava, Sylvie Forlani, Gabrielle Rudolf, Edouard Hirsch, Eric Leguern, Pierre Labauge, Simona Balestrini, Josemir W Sander, Zaid Afawi, Ingo Helbig, Hiroyuki Ishiura, Shoji Tsuji, Sanjay M Sisodiya, Giorgio Casari, Lynette G Sadleir, Riaan van Coller, Marina A J Tijssen, Karl Martin Klein, Arn M J M van den Maagdenberg, Federico Zara, Renzo Guerrini, Samuel Frank Berkovic, Tommaso Pippucci, Canafoglia Laura, Melanie Bahlo, Pasquale Striano, Ingrid Eileen Scheffer, Francesco Brancati, Christel Depienne, Jozef Gecz
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2. Nature communications 10 (1) (2019)
Mark A Corbett, Clare L van Eyk, Dani L Webber, Stephen J Bent, Morgan Newman, Kelly Harper, Jesia G Berry, Dimitar N Azmanov, Karen J Woodward, Alison E Gardner, Jennie Slee, Luis Alberto Pérez-Jurado, Alastair H MacLennan, Jozef Gecz
Erratum: Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy. NPJ genomic medicine 4 (2019)
Mark A Corbett, Clare L van Eyk, Dani L Webber, Stephen J Bent, Morgan Newman, Kelly Harper, Jesia G Berry, Dimitar N Azmanov, Karen J Woodward, Alison E Gardner, Jennie Slee, Luis Alberto Pérez-Jurado, Alastair H MacLennan, Jozef Gecz
Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy. NPJ genomic medicine 3 (2018)

Mark A Corbett.css-eqlu8i{font-size:small;padding-left:4px;} (M A Corbett)

Publication Activity (10 Years)

Top Topics

Top Venues

Mark A Corbett (M A Corbett)