Sandra Donkervoort

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 16

Top Topics

Intellectual Disability

Muscular Dystrophy

Top Venues

medRxiv : the preprint server for health sciences

Annals of clinical and translational neurology

Science translational medicine

Neurology. Genetics

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)
Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A Saporta, David A Dyment, Jacinda B Sampson, Sander Pajusalu, Christina Austin-Tse, Kyle Hurth, Julie S Cohen, Kirsty McWalter, Jodi Warman-Chardon, Amy Crunk, A Reghan Foley, null null, Andrew L Mammen, Matthew T Wheeler, Anne O'Donnell-Luria, Carsten G Bonnemann
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. Annals of clinical and translational neurology (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)
A Reghan Foley, Pomi Yun, Meganne E Leach, Sarah B Neuhaus, Gilberto V Averion, Ying Hu, Leslie H Hayes, Sandra Donkervoort, Minal S Jain, Melissa Waite, Rebecca Parks, Diana X Bharucha-Goebel, Oscar H Mayer, Yaqun Zou, Margaret Fink, Jameice DeCoster, Christopher Mendoza, Cynthia Arévalo, Rudolf Hausmann, Diana Petraki, Ying-Kuen Cheung, Carsten G Bonnemann
Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy. Neurology. Genetics 10 (3) (2024)
Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A Saporta, David A Dyment, Jacinda B Sampson, Sander Pajusalu, Christina Austin-Tse, Kyle Hurth, Julie S Cohen, Kirsty McWalter, Jodi Warman-Chardon, Amy Crunk, A Reghan Foley, null null, Andrew L Mammen, Matthew T Wheeler, Anne O'Donnell-Luria, Carsten G Bonnemann
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. Annals of clinical and translational neurology 11 (3) (2024)
Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A Saporta, David A Dyment, Jacinda B Sampson, Sander Pajusalu, Christina Austin-Tse, Kyle Hurth, Julie S Cohen, Kirsty McWalter, Jodi Warman-Chardon, Amy Crunk, A Reghan Foley, null null, Andrew L Mammen, Matthew T Wheeler, Anne O'Donnell-Luria, Carsten G Bonnemann
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. Annals of clinical and translational neurology 11 (3) (2024)
A Reghan Foley, Pomi Yun, Meganne E Leach, Sarah B Neuhaus, Gilberto V Averion, Ying Hu, Leslie H Hayes, Sandra Donkervoort, Minal S Jain, Melissa Waite, Rebecca Parks, Diana X Bharucha-Goebel, Oscar H Mayer, Yaqun Zou, Margaret Fink, Jameice DeCoster, Christopher Mendoza, Cynthia Arévalo, Rudolf Hausmann, Diana Petraki, Ying-Kuen Cheung, Carsten G Bonnemann
Phase 1 Open-Label Study of Omigapil in Patients With LAMA2- or COL6-Related Dystrophy. Neurology. Genetics 10 (3) (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)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A Saporta, David A Dyment, Jacinda B Sampson, Sander Pajusalu, Christina Austin-Tse, Kyle Hurth, Julie S Cohen, Kirsty McWalter, Jodi Warman-Chardon, Amy Crunk, A Reghan Foley, null null, Andrew L Mammen, Matthew T Wheeler, Anne O'Donnell-Luria, Carsten G Bonnemann
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy. Annals of clinical and translational neurology 11 (3) (2024)
A Reghan Foley, Veronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek, Anna Sarkozy, Russell J Butterfield, Janbernd Kirschner, Andrés Nascimento, Daniel Natera-de Benito, Susana Quijano-Roy, Kristl G Claeys, Luciano Merlini, Giacomo Pietro Comi, Monique Ryan, Denise McDonald, Pinki Munot, Grace Yoon, Edward Leung, Erika L Finanger, Meganne E Leach, James Collins, Cuixia Tian, Payam Mohassel, Sarah B Neuhaus, Dimah Saade, Benjamin T Cocanougher, Mary-Lynn Chu, Mena Scavina, Carla Grosmann, Randal Richardson, Brian D Kossak, Sidney M Gospe, Vikram Bhise, Gita Tauriņa, Baiba Lace, Monica Troncoso, Mordechai Shohat, Adel Shalata, Sophelia Hoi Shan Chan, Manu Jokela, Johanna Palmio, Göknur Haliloğlu, Cristina Jou, Corine Gartioux, Herimela Solomon-Degefa, Carolin D Freiburg, Alvise Schiavinato, Haiyan Zhou, Sara Aguti, Yoram Nevo, Ichizo Nishino, Cecilia Jimenez-Mallebrera, Shireen R Lamandé, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Daniel G MacArthur, Steve D Wilton, Raimund Wagener, Enrico Silvio Bertini, Francesco Muntoni, Carsten G Bonnemann
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy. medRxiv : the preprint server for health sciences (2024)
Sandra Donkervoort, Niklas Krause, Mykola Dergai, Pomi Yun, Judith Koliwer, Svetlana Gorokhova, Janelle Geist Hauserman, Beryl B Cummings, Ying Hu, Rosemarie Smith, Prech Uapinyoying, Vijay S Ganesh, Partha S Ghosh, Kristin G Monaghan, Seby L Edassery, Pia E Ferle, Sarah Silverstein, Katherine R Chao, Molly Snyder, Sara Ellingwood, Diana Bharucha-Goebel, Susan T Iannaccone, Matteo Dal Peraro, A Reghan Foley, Jeffrey N Savas, Veronique Bolduc, Dirk Fasshauer, Carsten G Bönnemann, Michael Schwake
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy. EMBO molecular medicine 13 (12) (2021)
Sandra Donkervoort, Payam Mohassel, Lucia Laugwitz, Maha S Zaki, Erik-Jan Kamsteeg, Reza Maroofian, Katherine R Chao, Corien C Verschuuren-Bemelmans, Veronka Horber, Annemarie J M Fock, Riley M McCarty, Minal S Jain, Victoria Biancavilla, Grace McMacken, Matthew Nalls, Nicol C Voermans, Hasnaa M Elbendary, Molly Snyder, Chunyu Cai, Tanya J Lehky, Valentina Stanley, Susan T Iannaccone, A Reghan Foley, Hanns Lochmüller, Joseph Gleeson, Henry Houlden, Tobias B Haack, Rita Horvath, Carsten G Bönnemann
Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome. American journal of medical genetics. Part A 182 (10) (2020)