Nigel G Laing (Nigel Laing)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 24

Top Topics

Muscular Dystrophy

Intellectual Disability

Dna Methylation

Top Venues

Nature genetics

Journal of personalized medicine

Journal of the peripheral nervous system : JPNS

Science translational medicine

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

Publications

Sandra Donkervoort, Martijn van de Locht, Dario Ronchi, Janine Reunert, Catriona A Mclean, Maha Saad Zaki, Rotem Orbach, Josine M de Winter, Stefan Conijn, Daan Hoomoedt, Osorio Lopes Abath Neto, Francesca Magri, Angela N Viaene, A Reghan Foley, Svetlana Gorokhova, Veronique Bolduc, Ying Hu, Nicole Acquaye, Laura Napoli, Julien H Park, Kalyan Immadisetty, Lee B Miles, Mona Essawi, Salar McModie, Leonardo F Ferreira, Simona Zanotti, Sarah B Neuhaus, Livija Medne, Nagham ElBagoury, Kory R Johnson, Yong Zhang, Nigel G Laing, Mark R Davis, Robert J Bryson-Richardson, Darren T Hwee, James J Hartman, Fady I Malik, Peter Michael Kekenes-Huskey, Giacomo Pietro Comi, Wessam E Sharaf-Eldin, Thorsten Marquardt, Gianina Ravenscroft, Carsten G Bonnemann, Coen A C Ottenheijm
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease. Science translational medicine 16 (741) (2024)
Bianca Rose Grosz, Jevin M Parmar, Melina Ellis, Samantha J Bryen, Cas Simons, Andre L M Reis, Igor Stevanovski, Ira W Deveson, Garth A Nicholson, Nigel G Laing, Mathew J Wallis, Gianina Ravenscroft, Kishore Raj Kumar, Steve Vucic, Marina L Kennerson
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing. Journal of the peripheral nervous system : JPNS (2024)
David Pellerin, Giulia F Del Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji K Nageshwaran, Warren A Cheung, Isaac R L Xu, Marie-Josée Dicaire, Guinevere Spurdens, Gabriel Matos-Rodrigues, Igor Stevanovski, Carolin K Scriba, Adriana P Rebelo, Virginie Roth, Marion Wandzel, Céline Bonnet, Catherine Ashton, Aman Agarwal, Cyril J Peter, Dan Hasson, Nadejda M Tsankova, Ken Dewar, Phillipa J Lamont, Nigel G Laing, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Karen Usdin, Andre Nussenzweig, Marek Napierala, Zhao Chen, Hong Jiang, Ira W Deveson, Gianina Ravenscroft, Schahram Akbarian, Michael A Eberle, Kym M Boycott, Tomi Pastinen, null null, Bernard Brais, Stephan Zuchner, Vance P Lemmon
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus. Nature genetics 56 (7) (2024)
David Pellerin, Giulia F Del Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji K Nageshwaran, Warren A Cheung, Isaac R L Xu, Marie-Josée Dicaire, Guinevere Spurdens, Gabriel Matos-Rodrigues, Igor Stevanovski, Carolin K Scriba, Adriana P Rebelo, Virginie Roth, Marion Wandzel, Céline Bonnet, Catherine Ashton, Aman Agarwal, Cyril J Peter, Dan Hasson, Nadejda M Tsankova, Ken Dewar, Phillipa J Lamont, Nigel G Laing, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Karen Usdin, Andre Nussenzweig, Marek Napierala, Zhao Chen, Hong Jiang, Ira W Deveson, Gianina Ravenscroft, Schahram Akbarian, Michael A Eberle, Kym M Boycott, Tomi Pastinen, null null, Bernard Brais, Stephan Zuchner, Vance P Lemmon
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus. Nature genetics (2024)
Sandra Donkervoort, Martijn van de Locht, Dario Ronchi, Janine Reunert, Catriona A Mclean, Maha Saad Zaki, Rotem Orbach, Josine M de Winter, Stefan Conijn, Daan Hoomoedt, Osorio Lopes Abath Neto, Francesca Magri, Angela N Viaene, A Reghan Foley, Svetlana Gorokhova, Veronique Bolduc, Ying Hu, Nicole Acquaye, Laura Napoli, Julien H Park, Kalyan Immadisetty, Lee B Miles, Mona Essawi, Salar McModie, Leonardo F Ferreira, Simona Zanotti, Sarah B Neuhaus, Livija Medne, Nagham ElBagoury, Kory R Johnson, Yong Zhang, Nigel G Laing, Mark R Davis, Robert J Bryson-Richardson, Darren T Hwee, James J Hartman, Fady I Malik, Peter Michael Kekenes-Huskey, Giacomo Pietro Comi, Wessam E Sharaf-Eldin, Thorsten Marquardt, Gianina Ravenscroft, Carsten G Bonnemann, Coen A C Ottenheijm
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease. Science translational medicine 16 (741) (2024)
David Pellerin, Giulia F Del Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji K Nageshwaran, Warren A Cheung, Isaac R L Xu, Marie-Josée Dicaire, Guinevere Spurdens, Gabriel Matos-Rodrigues, Igor Stevanovski, Carolin K Scriba, Adriana P Rebelo, Virginie Roth, Marion Wandzel, Céline Bonnet, Catherine Ashton, Aman Agarwal, Cyril J Peter, Dan Hasson, Nadejda M Tsankova, Ken Dewar, Phillipa J Lamont, Nigel G Laing, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Karen Usdin, Andre Nussenzweig, Marek Napierala, Zhao Chen, Hong Jiang, Ira W Deveson, Gianina Ravenscroft, Schahram Akbarian, Michael A Eberle, Kym M Boycott, Tomi Pastinen, null null, Bernard Brais, Stephan Zuchner, Vance P Lemmon
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus. Nature genetics 56 (7) (2024)
Bianca Rose Grosz, Jevin M Parmar, Melina Ellis, Samantha J Bryen, Cas Simons, Andre L M Reis, Igor Stevanovski, Ira W Deveson, Garth A Nicholson, Nigel G Laing, Mathew J Wallis, Gianina Ravenscroft, Kishore Raj Kumar, Steve Vucic, Marina L Kennerson
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Jevin M Parmar, Nigel G Laing, Marina L Kennerson, Gianina Ravenscroft
Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards. Journal of neurology, neurosurgery, and psychiatry (2024)
Sandra Donkervoort, Martijn van de Locht, Dario Ronchi, Janine Reunert, Catriona A Mclean, Maha Saad Zaki, Rotem Orbach, Josine M de Winter, Stefan Conijn, Daan Hoomoedt, Osorio Lopes Abath Neto, Francesca Magri, Angela N Viaene, A Reghan Foley, Svetlana Gorokhova, Veronique Bolduc, Ying Hu, Nicole Acquaye, Laura Napoli, Julien H Park, Kalyan Immadisetty, Lee B Miles, Mona Essawi, Salar McModie, Leonardo F Ferreira, Simona Zanotti, Sarah B Neuhaus, Livija Medne, Nagham ElBagoury, Kory R Johnson, Yong Zhang, Nigel G Laing, Mark R Davis, Robert J Bryson-Richardson, Darren T Hwee, James J Hartman, Fady I Malik, Peter Michael Kekenes-Huskey, Giacomo Pietro Comi, Wessam E Sharaf-Eldin, Thorsten Marquardt, Gianina Ravenscroft, Carsten G Bonnemann, Coen A C Ottenheijm
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease. Science translational medicine 16 (741) (2024)
David Pellerin, Giulia F Del Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji K Nageshwaran, Warren A Cheung, Isaac R L Xu, Marie-Josée Dicaire, Guinevere Spurdens, Gabriel Matos-Rodrigues, Igor Stevanovski, Carolin K Scriba, Adriana P Rebelo, Virginie Roth, Marion Wandzel, Céline Bonnet, Catherine Ashton, Aman Agarwal, Cyril J Peter, Dan Hasson, Nadejda M Tsankova, Ken Dewar, Phillipa J Lamont, Nigel G Laing, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Karen Usdin, Andre Nussenzweig, Marek Napierala, Zhao Chen, Hong Jiang, Ira W Deveson, Gianina Ravenscroft, Schahram Akbarian, Michael A Eberle, Kym M Boycott, Tomi Pastinen, null null, Bernard Brais, Stephan Zuchner, Vance P Lemmon
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus. Nature genetics (2024)
Jevin M Parmar, Nigel G Laing, Marina L Kennerson, Gianina Ravenscroft
Genetics of inherited peripheral neuropathies and the next frontier: looking backwards to progress forwards. Journal of neurology, neurosurgery, and psychiatry (2024)
David Pellerin, Giulia F Del Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji K Nageshwaran, Warren A Cheung, Isaac R L Xu, Marie-Josée Dicaire, Guinevere Spurdens, Gabriel Matos-Rodrigues, Igor Stevanovski, Carolin K Scriba, Adriana P Rebelo, Virginie Roth, Marion Wandzel, Céline Bonnet, Catherine Ashton, Aman Agarwal, Cyril J Peter, Dan Hasson, Nadejda M Tsankova, Ken Dewar, Phillipa J Lamont, Nigel G Laing, Mathilde Renaud, Henry Houlden, Matthis Synofzik, Karen Usdin, Andre Nussenzweig, Marek Napierala, Zhao Chen, Hong Jiang, Ira W Deveson, Gianina Ravenscroft, Schahram Akbarian, Michael A Eberle, Kym M Boycott, Tomi Pastinen, null null, Bernard Brais, Stephan Zuchner, Vance P Lemmon
A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus. Nature genetics 56 (7) (2024)
Bianca Rose Grosz, Jevin M Parmar, Melina Ellis, Samantha J Bryen, Cas Simons, Andre L M Reis, Igor Stevanovski, Ira W Deveson, Garth A Nicholson, Nigel G Laing, Mathew J Wallis, Gianina Ravenscroft, Kishore Raj Kumar, Steve Vucic, Marina L Kennerson
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Bianca Rose Grosz, Jevin M Parmar, Melina Ellis, Samantha J Bryen, Cas Simons, Andre L M Reis, Igor Stevanovski, Ira W Deveson, Garth A Nicholson, Nigel G Laing, Mathew J Wallis, Gianina Ravenscroft, Kishore Raj Kumar, Steve Vucic, Marina L Kennerson
A deep intronic variant in MME causes autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing. Journal of the peripheral nervous system : JPNS 29 (2) (2024)
Alison D Archibald, Belinda J McClaren, Jade Caruana, Erin Tutty, Emily A King, Jane L Halliday, Stephanie Best, Anaita Kanga-Parabia, Bruce H Bennetts, Corrina C Cliffe, Evanthia Olympia Madelli, Gladys Ho, Jan Liebelt, Janet C Long, Jeffrey Braithwaite, Jillian Kennedy, R John H Massie, Jon D Emery, Julie McGaughran, Justine E Marum, Kirsten Boggs, Kristine Barlow-Stewart, Leslie Burnett, Lisa Dive, Lucinda Freeman, Mark R Davis, Martin J Downes, Mathew Wallis, Monica M Ferrie, Nicholas Pachter, Paul A Scuffham, Rachael Casella, Richard J N Allcock, Royston Ong, Samantha Edwards, Sarah Righetti, Sebastian Lunke, Sharon Lewis, Susan P Walker, Tiffany F Boughtwood, Tristan Hardy, Ainsley Janelle Newson, Edwin P Kirk, Nigel G Laing, Martin B Delatycki, null The Mackenzie's Mission Study Team
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation. Journal of personalized medicine 12 (11) (2022)
Juliana Gurgel-Giannetti, Lucas Santos Souza, Guilherme L Yamamoto, Marina Belisario, Monize Lazar, Wilson Campos, Rita de Cassia M Pavanello, Mayana Zatz, Umbertina Reed, Edmar Zanoteli, Acary Bulle Oliveira, Vilma-Lotta Lehtokari, Erasmo B Casella, Marcela C Machado-Costa, Carina Wallgren-Pettersson, Nigel G Laing, Vincenzo Nigro, Mariz Vainzof
Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization. International journal of molecular sciences 23 (19) (2022)
Alison D Archibald, Belinda J McClaren, Jade Caruana, Erin Tutty, Emily A King, Jane L Halliday, Stephanie Best, Anaita Kanga-Parabia, Bruce H Bennetts, Corrina C Cliffe, Evanthia Olympia Madelli, Gladys Ho, Jan Liebelt, Janet C Long, Jeffrey Braithwaite, Jillian Kennedy, R John H Massie, Jon D Emery, Julie McGaughran, Justine E Marum, Kirsten Boggs, Kristine Barlow-Stewart, Leslie Burnett, Lisa Dive, Lucinda Freeman, Mark R Davis, Martin J Downes, Mathew Wallis, Monica M Ferrie, Nicholas Pachter, Paul A Scuffham, Rachael Casella, Richard J N Allcock, Royston Ong, Samantha Edwards, Sarah Righetti, Sebastian Lunke, Sharon Lewis, Susan P Walker, Tiffany F Boughtwood, Tristan Hardy, Ainsley Janelle Newson, Edwin P Kirk, Nigel G Laing, Martin B Delatycki, null The Mackenzie's Mission Study Team
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation. Journal of personalized medicine 12 (11) (2022)
Samantha Edwards, Nigel G Laing
Genetic Counselling Needs for Reproductive Genetic Carrier Screening: A Scoping Review. Journal of personalized medicine 12 (10) (2022)
Igor Stevanovski, Sanjog R Chintalaphani, Hasindu Gamaarachchi, James M Ferguson, Sandy S Pineda, Carolin K Scriba, Michel C Tchan, Victor S C Fung, Karl Ng, Andrea Cortese, Henry Houlden, Carol Dobson-Stone, Lauren Fitzpatrick, Glenda M Halliday, Gianina Ravenscroft, Mark R Davis, Nigel G Laing, Avi Fellner, Marina L Kennerson, Kishore Raj Kumar, Ira W Deveson
Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing. Science advances 8 (9) (2022)
Alison D Archibald, Belinda J McClaren, Jade Caruana, Erin Tutty, Emily A King, Jane L Halliday, Stephanie Best, Anaita Kanga-Parabia, Bruce H Bennetts, Corrina C Cliffe, Evanthia Olympia Madelli, Gladys Ho, Jan Liebelt, Janet C Long, Jeffrey Braithwaite, Jillian Kennedy, R John H Massie, Jon D Emery, Julie McGaughran, Justine E Marum, Kirsten Boggs, Kristine Barlow-Stewart, Leslie Burnett, Lisa Dive, Lucinda Freeman, Mark R Davis, Martin J Downes, Mathew Wallis, Monica M Ferrie, Nicholas Pachter, Paul A Scuffham, Rachael Casella, Richard J N Allcock, Royston Ong, Samantha Edwards, Sarah Righetti, Sebastian Lunke, Sharon Lewis, Susan P Walker, Tiffany F Boughtwood, Tristan Hardy, Ainsley Janelle Newson, Edwin P Kirk, Nigel G Laing, Martin B Delatycki, null The Mackenzie's Mission Study Team
The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation. Journal of personalized medicine 12 (11) (2022)
Joshua S Clayton, Elyshia L McNamara, Hayley Goullee, Stefan Conijn, Keren Muthsam, Gabrielle C Musk, David Coote, James Kijas, Alison C Testa, Rhonda L Taylor, Amanda J O'Hara, David Groth, Coen Ottenheijm, Gianina Ravenscroft, Nigel G Laing, Kristen J Nowak
Ovine congenital progressive muscular dystrophy (OCPMD) is a model of TNNT1 congenital myopathy. Acta neuropathologica communications 8 (1) (2020)
Edith Bonnin, Pauline Cabochette, Alessandro Filosa, Ramona Jühlen, Shoko Komatsuzaki, Mohammed Hezwani, Achim Dickmanns, Valérie Martinelli, Marjorie Vermeersch, Lynn Supply, Nuno Martins, Laurence Pirenne, Gianina Ravenscroft, Marcus Lombard, Sarah A Port, Christiane Spillner, Sandra Janssens, Ellen Roets, Jo Van Dorpe, Martin Lammens, Ralph H Kehlenbach, Ralf Ficner, Nigel G Laing, Katrin Hoffmann, Benoit Vanhollebeke, Birthe Fahrenkrog
Biallelic mutations in nucleoporin NUP88 cause lethal fetal akinesia deformation sequence. PLoS genetics 14 (12) (2018)
Gianina Ravenscroft, Robert J Bryson-Richardson, Kristen J Nowak, Nigel G Laing
Recent advances in understanding congenital myopathies. F1000Research 7 (2018)
Beryl B Cummings, Jamie L Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, A Reghan Foley, Veronique Bolduc, Leigh B Waddell, Sarah A Sandaradura, Gina L O'Grady, Elicia Estrella, Hemakumar M Reddy, Fengmei Zhao, Ben Weisburd, Konrad J Karczewski, Anne H O'Donnell-Luria, Daniel Birnbaum, Anna Sarkozy, Ying Hu, Hernan D Gonorazky, Kristl Claeys, Himanshu Joshi, Adam M Bournazos, Emily C Oates, Roula Ghaoui, Mark R Davis, Nigel G Laing, Ana Topf, null null, Peter B Kang, Alan H Beggs, Kathryn N North, Volker Straub, James J Dowling, Francesco Muntoni, Nigel F Clarke, Sandra T Cooper, Carsten G Bonnemann, Daniel G MacArthur
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Science translational medicine 9 (386) (2017)