Sandra T Cooper

ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 56

Top Venues

European journal of human genetics : EJHG

Nature genetics

The New England journal of medicine

Blood advances

University College London (PHD)

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

Education History

University College London

United Kingdom

PHD :: Molecular Pharmacology

Publications

Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
Lisa G Riley, Subrata Sabui, Hamid M Said, Aram Niaz, Katta Mohan Girisha, Periyasamy Radhakrishnan, Sheela Nampoothiri, Dhanya Yesodharan, Tatjana Kilo, Janine Smith, Rachel S H Wong, Manoj P Menezes, Sachin Gupta, Sandra T Cooper, Shanti Balasubramaniam
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy. European journal of human genetics : EJHG 32 (8) (2024)
Rhett G Marchant, Samantha J Bryen, Melanie Bahlo, Anita Cairns, Katherine R Chao, Alastair Corbett, Mark R Davis, Vijay S Ganesh, Roula Ghaoui, Kristi J Jones, Andrew J Kornberg, Monkol Lek, Christina Liang, Daniel G MacArthur, Emily C Oates, Anne O'Donnell-Luria, Gina L O'Grady, Ikeoluwa A Osei-Owusu, Haloom Rafehi, Stephen W Reddel, Richard H Roxburgh, Monique M Ryan, Sarah A Sandaradura, Liam W Scott, Elise Valkanas, Ben Weisburd, Helen Young, Frances J Evesson, Leigh B Waddell, Sandra T Cooper
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone. Annals of clinical and translational neurology 11 (5) (2024)
Katharine Y Zhang, Himanshu Joshi, Rhett G Marchant, Samantha J Bryen, Ruebena Dawes, Michaela Yuen, Sandra T Cooper, Frances J Evesson
Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint. European journal of human genetics : EJHG 32 (8) (2024)
Parvathy Venugopal, Peer Arts, Lucy Claire Fox, Annet Simons, Devendra K Hiwase, Peter G Bardy, Annette Swift, David Morrall Ross, Lize F D van Vulpen, Arjan Buijs, Kelly L Bolton, Bartlomiej Getta, Eliska Furlong, Tina Carter, Ingrid Krapels, Marlijn P A Hoeks, Adila Al Kindy, Farah Al Kindy, Sonja de Munnik, Pamela Evans, Mahalia S B Frank, Adam M Bournazos, Sandra T Cooper, Thuong Thi Ha, Matilda R Jackson, Luis Alberto Arriola-Martinez, Kerry Phillips, Yvonne Brennan, Madhura Bakshi, Karen Ambler, Song Gao, Karin S Kassahn, Rosalie Kenyon, Kevin Hung, Milena Babic, Alan McGovern, Lesley Rawlings, Cassandra Vakulin, Lucas Dejong, Rema Fathi, Simon McRae, Nicholas Myles, Dariusz Ladon, Marjolijn Jongmans, Roland P Kuiper, Nicola K Poplawski, Pasquale Barbaro, Piers Blombery, Anna L Brown, Christopher N Hahn, Hamish S Scott
Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion. Blood advances 8 (13) (2024)
Lisa G Riley, Subrata Sabui, Hamid M Said, Aram Niaz, Katta Mohan Girisha, Periyasamy Radhakrishnan, Sheela Nampoothiri, Dhanya Yesodharan, Tatjana Kilo, Janine Smith, Rachel S H Wong, Manoj P Menezes, Sachin Gupta, Sandra T Cooper, Shanti Balasubramaniam
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy. European journal of human genetics : EJHG (2024)
Katharine Y Zhang, Himanshu Joshi, Rhett G Marchant, Samantha J Bryen, Ruebena Dawes, Michaela Yuen, Sandra T Cooper, Frances J Evesson
Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint. European journal of human genetics : EJHG 32 (8) (2024)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics (2024)
Katharine Y Zhang, Himanshu Joshi, Rhett G Marchant, Samantha J Bryen, Ruebena Dawes, Michaela Yuen, Sandra T Cooper, Frances J Evesson
Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint. European journal of human genetics : EJHG (2024)
Monica Hsiung Wojcik, Gabrielle Lemire, Eva Berger, Maha S Zaki, Mariel Wissmann, Wathone Win, Susan M White, Ben Weisburd, Dagmar Wieczorek, Leigh B Waddell, Jeffrey M Verboon, Grace E VanNoy, Ana Töpf, Tiong Yang Tan, Steffen Syrbe, Vincent Strehlow, Volker Straub, Sarah L Stenton, Hana Snow, Moriel Singer-Berk, Josh Silver, Shirlee Shril, Eleanor G Seaby, Ronen Schneider, Vijay G Sankaran, Alba Sanchis-Juan, Kathryn A Russell, Karit Reinson, Gianina Ravenscroft, Maximilian Radtke, Denny Popp, Tilman Polster, Konrad Platzer, Eric A Pierce, Emily M Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei-Owusu, Henry Opperman, Volkan Okur, Kaisa Teele Oja, Melanie O'Leary, Emily O'Heir, Chantal F Morel, Andreas Merkenschlager, Rhett G Marchant, Brian E Mangilog, Jill A Madden, Daniel MacArthur, Alysia Lovgren, Jordan P Lerner-Ellis, Jasmine Lin, Nigel Laing, Friedhelm Hildebrandt, Julia Hentschel, Emily Groopman, Julia Goodrich, Joseph G Gleeson, Roula Ghaoui, Casie A Genetti, Janina Gburek-Augustat, Hanna T Gazda, Vijay S Ganesh, Mythily Ganapathi, Lyndon Gallacher, Jack M Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T Cooper, Wendy K Chung, John Christodoulou, Katherine R Chao, Liam D Cato, Kinga M Bujakowska, Samantha J Bryen, Harrison Brand, Carsten G Bönnemann, Alan H Beggs, Samantha M Baxter, Tobias Bartolomaeus, Pankaj B Agrawal, Michael Talkowski, Christina Austin-Tse, Rami Abou Jamra, Michael J Bamshad, Anne O'Donnell-Luria
Genome Sequencing for Diagnosing Rare Diseases. The New England journal of medicine 390 (21) (2024)
Lisa G Riley, Subrata Sabui, Hamid M Said, Aram Niaz, Katta Mohan Girisha, Periyasamy Radhakrishnan, Sheela Nampoothiri, Dhanya Yesodharan, Tatjana Kilo, Janine Smith, Rachel S H Wong, Manoj P Menezes, Sachin Gupta, Sandra T Cooper, Shanti Balasubramaniam
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy. European journal of human genetics : EJHG 32 (8) (2024)
Monica Hsiung Wojcik, Gabrielle Lemire, Eva Berger, Maha S Zaki, Mariel Wissmann, Wathone Win, Susan M White, Ben Weisburd, Dagmar Wieczorek, Leigh B Waddell, Jeffrey M Verboon, Grace E VanNoy, Ana Töpf, Tiong Yang Tan, Steffen Syrbe, Vincent Strehlow, Volker Straub, Sarah L Stenton, Hana Snow, Moriel Singer-Berk, Josh Silver, Shirlee Shril, Eleanor G Seaby, Ronen Schneider, Vijay G Sankaran, Alba Sanchis-Juan, Kathryn A Russell, Karit Reinson, Gianina Ravenscroft, Maximilian Radtke, Denny Popp, Tilman Polster, Konrad Platzer, Eric A Pierce, Emily M Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei-Owusu, Henry Opperman, Volkan Okur, Kaisa Teele Oja, Melanie O'Leary, Emily O'Heir, Chantal F Morel, Andreas Merkenschlager, Rhett G Marchant, Brian E Mangilog, Jill A Madden, Daniel MacArthur, Alysia Lovgren, Jordan P Lerner-Ellis, Jasmine Lin, Nigel Laing, Friedhelm Hildebrandt, Julia Hentschel, Emily Groopman, Julia Goodrich, Joseph G Gleeson, Roula Ghaoui, Casie A Genetti, Janina Gburek-Augustat, Hanna T Gazda, Vijay S Ganesh, Mythily Ganapathi, Lyndon Gallacher, Jack M Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T Cooper, Wendy K Chung, John Christodoulou, Katherine R Chao, Liam D Cato, Kinga M Bujakowska, Samantha J Bryen, Harrison Brand, Carsten G Bönnemann, Alan H Beggs, Samantha M Baxter, Tobias Bartolomaeus, Pankaj B Agrawal, Michael Talkowski, Christina Austin-Tse, Rami Abou Jamra, Michael J Bamshad, Anne O'Donnell-Luria
Genome Sequencing for Diagnosing Rare Diseases. The New England journal of medicine 390 (21) (2024)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
Tania M Larrinaga, Gerrie P Farman, Rachel M Mayfield, Michaela Yuen, Rebecca C Ahrens-Nicklas, Sandra T Cooper, Christopher T Pappas, Carol C Gregorio
Lmod2 is necessary for effective skeletal muscle contraction. Science advances 10 (11) (2024)
Tania M Larrinaga, Gerrie P Farman, Rachel M Mayfield, Michaela Yuen, Rebecca C Ahrens-Nicklas, Sandra T Cooper, Christopher T Pappas, Carol C Gregorio
Lmod2 is necessary for effective skeletal muscle contraction. Science advances 10 (11) (2024)
Katharine Y Zhang, Himanshu Joshi, Rhett G Marchant, Samantha J Bryen, Ruebena Dawes, Michaela Yuen, Sandra T Cooper, Frances J Evesson
Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint. European journal of human genetics : EJHG 32 (8) (2024)
Parvathy Venugopal, Peer Arts, Lucy Claire Fox, Annet Simons, Devendra K Hiwase, Peter G Bardy, Annette Swift, David Morrall Ross, Lize F D van Vulpen, Arjan Buijs, Kelly L Bolton, Bartlomiej Getta, Eliska Furlong, Tina Carter, Ingrid Krapels, Marlijn P A Hoeks, Adila Al Kindy, Farah Al Kindy, Sonja de Munnik, Pamela Evans, Mahalia S B Frank, Adam M Bournazos, Sandra T Cooper, Thuong Thi Ha, Matilda R Jackson, Luis Alberto Arriola-Martinez, Kerry Phillips, Yvonne Brennan, Madhura Bakshi, Karen Ambler, Song Gao, Karin S Kassahn, Rosalie Kenyon, Kevin Hung, Milena Babic, Alan McGovern, Lesley Rawlings, Cassandra Vakulin, Lucas Dejong, Rema Fathi, Simon McRae, Nicholas Myles, Dariusz Ladon, Marjolijn Jongmans, Roland P Kuiper, Nicola K Poplawski, Pasquale Barbaro, Piers Blombery, Anna L Brown, Christopher N Hahn, Hamish S Scott
Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion. Blood advances 8 (13) (2024)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
Tania M Larrinaga, Gerrie P Farman, Rachel M Mayfield, Michaela Yuen, Rebecca C Ahrens-Nicklas, Sandra T Cooper, Christopher T Pappas, Carol C Gregorio
Lmod2 is necessary for effective skeletal muscle contraction. Science advances 10 (11) (2024)
Monica Hsiung Wojcik, Gabrielle Lemire, Eva Berger, Maha S Zaki, Mariel Wissmann, Wathone Win, Susan M White, Ben Weisburd, Dagmar Wieczorek, Leigh B Waddell, Jeffrey M Verboon, Grace E VanNoy, Ana Töpf, Tiong Yang Tan, Steffen Syrbe, Vincent Strehlow, Volker Straub, Sarah L Stenton, Hana Snow, Moriel Singer-Berk, Josh Silver, Shirlee Shril, Eleanor G Seaby, Ronen Schneider, Vijay G Sankaran, Alba Sanchis-Juan, Kathryn A Russell, Karit Reinson, Gianina Ravenscroft, Maximilian Radtke, Denny Popp, Tilman Polster, Konrad Platzer, Eric A Pierce, Emily M Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei-Owusu, Henry Opperman, Volkan Okur, Kaisa Teele Oja, Melanie O'Leary, Emily O'Heir, Chantal F Morel, Andreas Merkenschlager, Rhett G Marchant, Brian E Mangilog, Jill A Madden, Daniel MacArthur, Alysia Lovgren, Jordan P Lerner-Ellis, Jasmine Lin, Nigel Laing, Friedhelm Hildebrandt, Julia Hentschel, Emily Groopman, Julia Goodrich, Joseph G Gleeson, Roula Ghaoui, Casie A Genetti, Janina Gburek-Augustat, Hanna T Gazda, Vijay S Ganesh, Mythily Ganapathi, Lyndon Gallacher, Jack M Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T Cooper, Wendy K Chung, John Christodoulou, Katherine R Chao, Liam D Cato, Kinga M Bujakowska, Samantha J Bryen, Harrison Brand, Carsten G Bönnemann, Alan H Beggs, Samantha M Baxter, Tobias Bartolomaeus, Pankaj B Agrawal, Michael Talkowski, Christina Austin-Tse, Rami Abou Jamra, Michael J Bamshad, Anne O'Donnell-Luria
Genome Sequencing for Diagnosing Rare Diseases. The New England journal of medicine 390 (21) (2024)
Rhett G Marchant, Samantha J Bryen, Melanie Bahlo, Anita Cairns, Katherine R Chao, Alastair Corbett, Mark R Davis, Vijay S Ganesh, Roula Ghaoui, Kristi J Jones, Andrew J Kornberg, Monkol Lek, Christina Liang, Daniel G MacArthur, Emily C Oates, Anne O'Donnell-Luria, Gina L O'Grady, Ikeoluwa A Osei-Owusu, Haloom Rafehi, Stephen W Reddel, Richard H Roxburgh, Monique M Ryan, Sarah A Sandaradura, Liam W Scott, Elise Valkanas, Ben Weisburd, Helen Young, Frances J Evesson, Leigh B Waddell, Sandra T Cooper
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone. Annals of clinical and translational neurology 11 (5) (2024)
Monica Hsiung Wojcik, Gabrielle Lemire, Eva Berger, Maha S Zaki, Mariel Wissmann, Wathone Win, Susan M White, Ben Weisburd, Dagmar Wieczorek, Leigh B Waddell, Jeffrey M Verboon, Grace E VanNoy, Ana Töpf, Tiong Yang Tan, Steffen Syrbe, Vincent Strehlow, Volker Straub, Sarah L Stenton, Hana Snow, Moriel Singer-Berk, Josh Silver, Shirlee Shril, Eleanor G Seaby, Ronen Schneider, Vijay G Sankaran, Alba Sanchis-Juan, Kathryn A Russell, Karit Reinson, Gianina Ravenscroft, Maximilian Radtke, Denny Popp, Tilman Polster, Konrad Platzer, Eric A Pierce, Emily M Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei-Owusu, Henry Opperman, Volkan Okur, Kaisa Teele Oja, Melanie O'Leary, Emily O'Heir, Chantal F Morel, Andreas Merkenschlager, Rhett G Marchant, Brian E Mangilog, Jill A Madden, Daniel MacArthur, Alysia Lovgren, Jordan P Lerner-Ellis, Jasmine Lin, Nigel Laing, Friedhelm Hildebrandt, Julia Hentschel, Emily Groopman, Julia Goodrich, Joseph G Gleeson, Roula Ghaoui, Casie A Genetti, Janina Gburek-Augustat, Hanna T Gazda, Vijay S Ganesh, Mythily Ganapathi, Lyndon Gallacher, Jack M Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T Cooper, Wendy K Chung, John Christodoulou, Katherine R Chao, Liam D Cato, Kinga M Bujakowska, Samantha J Bryen, Harrison Brand, Carsten G Bönnemann, Alan H Beggs, Samantha M Baxter, Tobias Bartolomaeus, Pankaj B Agrawal, Michael Talkowski, Christina Austin-Tse, Rami Abou Jamra, Michael J Bamshad, Anne O'Donnell-Luria
Genome Sequencing for Diagnosing Rare Diseases. The New England journal of medicine 390 (21) (2024)
Katharine Y Zhang, Himanshu Joshi, Rhett G Marchant, Samantha J Bryen, Ruebena Dawes, Michaela Yuen, Sandra T Cooper, Frances J Evesson
Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint. European journal of human genetics : EJHG 32 (8) (2024)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
Parvathy Venugopal, Peer Arts, Lucy Claire Fox, Annet Simons, Devendra K Hiwase, Peter G Bardy, Annette Swift, David Morrall Ross, Lize F D van Vulpen, Arjan Buijs, Kelly L Bolton, Bartlomiej Getta, Eliska Furlong, Tina Carter, Ingrid Krapels, Marlijn P A Hoeks, Adila Al Kindy, Farah Al Kindy, Sonja de Munnik, Pamela Evans, Mahalia S B Frank, Adam M Bournazos, Sandra T Cooper, Thuong Thi Ha, Matilda R Jackson, Luis Alberto Arriola-Martinez, Kerry Phillips, Yvonne Brennan, Madhura Bakshi, Karen Ambler, Song Gao, Karin S Kassahn, Rosalie Kenyon, Kevin Hung, Milena Babic, Alan McGovern, Lesley Rawlings, Cassandra Vakulin, Lucas Dejong, Rema Fathi, Simon McRae, Nicholas Myles, Dariusz Ladon, Marjolijn Jongmans, Roland P Kuiper, Nicola K Poplawski, Pasquale Barbaro, Piers Blombery, Anna L Brown, Christopher N Hahn, Hamish S Scott
Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion. Blood advances 8 (13) (2024)
Parvathy Venugopal, Peer Arts, Lucy Claire Fox, Annet Simons, Devendra K Hiwase, Peter G Bardy, Annette Narcis, David Morrall Ross, Lize F D van Vulpen, Arjan Buijs, Kelly L Bolton, Bartlomiej Getta, Eliska Furlong, Tina Carter, Ingrid Krapels, Marlijn P A Hoeks, Adila Al Kindy, Farah Al Kindy, Sonja de Munnik, Pamela Evans, Mahalia S B Frank, Adam M Bournazos, Sandra T Cooper, Thuong Thi Ha, Matilda R Jackson, Luis Alberto Arriola-Martinez, Kerry Phillips, Yvonne Brennan, Madhura Bakshi, Karen Ambler, Song Gao, Karin S Kassahn, Rosalie Kenyon, Kevin Hung, Milena Babic, Alan McGovern, Lesley Rawlings, Cassandra Valkulin, Lucas Dejong, Rema Fathi, Simon McRae, Nicholas Myles, Dariusz Ladon, Marjolijn C Jongmans, Roland P Kuiper, Nicola Poplawski, Pasquale M Barbaro, Piers Blombery, Anna L Brown, Christopher N Hahn, Hamish S Scott
Unravelling Facets of MECOM-Associated Syndrome: Somatic Genetic Rescue, Clonal Hematopoiesis and Phenotype Expansion. Blood advances (2024)
Lisa G Riley, Subrata Sabui, Hamid M Said, Aram Niaz, Katta Mohan Girisha, Periyasamy Radhakrishnan, Sheela Nampoothiri, Dhanya Yesodharan, Tatjana Kilo, Janine Smith, Rachel S H Wong, Manoj P Menezes, Sachin Gupta, Sandra T Cooper, Shanti Balasubramaniam
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy. European journal of human genetics : EJHG 32 (8) (2024)
Parvathy Venugopal, Peer Arts, Lucy Claire Fox, Annet Simons, Devendra K Hiwase, Peter G Bardy, Annette Swift, David Morrall Ross, Lize F D van Vulpen, Arjan Buijs, Kelly L Bolton, Bartlomiej Getta, Eliska Furlong, Tina Carter, Ingrid Krapels, Marlijn P A Hoeks, Adila Al Kindy, Farah Al Kindy, Sonja de Munnik, Pamela Evans, Mahalia S B Frank, Adam M Bournazos, Sandra T Cooper, Thuong Thi Ha, Matilda R Jackson, Luis Alberto Arriola-Martinez, Kerry Phillips, Yvonne Brennan, Madhura Bakshi, Karen Ambler, Song Gao, Karin S Kassahn, Rosalie Kenyon, Kevin Hung, Milena Babic, Alan McGovern, Lesley Rawlings, Cassandra Vakulin, Lucas Dejong, Rema Fathi, Simon McRae, Nicholas Myles, Dariusz Ladon, Marjolijn Jongmans, Roland P Kuiper, Nicola K Poplawski, Pasquale Barbaro, Piers Blombery, Anna L Brown, Christopher N Hahn, Hamish S Scott
Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion. Blood advances 8 (13) (2024)
Monica Hsiung Wojcik, Gabrielle Lemire, Eva Berger, Maha S Zaki, Mariel Wissmann, Wathone Win, Susan M White, Ben Weisburd, Dagmar Wieczorek, Leigh B Waddell, Jeffrey M Verboon, Grace E VanNoy, Ana Töpf, Tiong Yang Tan, Steffen Syrbe, Vincent Strehlow, Volker Straub, Sarah L Stenton, Hana Snow, Moriel Singer-Berk, Josh Silver, Shirlee Shril, Eleanor G Seaby, Ronen Schneider, Vijay G Sankaran, Alba Sanchis-Juan, Kathryn A Russell, Karit Reinson, Gianina Ravenscroft, Maximilian Radtke, Denny Popp, Tilman Polster, Konrad Platzer, Eric A Pierce, Emily M Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei-Owusu, Henry Opperman, Volkan Okur, Kaisa Teele Oja, Melanie O'Leary, Emily O'Heir, Chantal F Morel, Andreas Merkenschlager, Rhett G Marchant, Brian E Mangilog, Jill A Madden, Daniel MacArthur, Alysia Lovgren, Jordan P Lerner-Ellis, Jasmine Lin, Nigel Laing, Friedhelm Hildebrandt, Julia Hentschel, Emily Groopman, Julia Goodrich, Joseph G Gleeson, Roula Ghaoui, Casie A Genetti, Janina Gburek-Augustat, Hanna T Gazda, Vijay S Ganesh, Mythily Ganapathi, Lyndon Gallacher, Jack M Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T Cooper, Wendy K Chung, John Christodoulou, Katherine R Chao, Liam D Cato, Kinga M Bujakowska, Samantha J Bryen, Harrison Brand, Carsten G Bönnemann, Alan H Beggs, Samantha M Baxter, Tobias Bartolomaeus, Pankaj B Agrawal, Michael Talkowski, Christina Austin-Tse, Rami Abou Jamra, Michael J Bamshad, Anne O'Donnell-Luria
Genome Sequencing for Diagnosing Rare Diseases. The New England journal of medicine 390 (21) (2024)
Lisa G Riley, Subrata Sabui, Hamid M Said, Aram Niaz, Katta Mohan Girisha, Periyasamy Radhakrishnan, Sheela Nampoothiri, Dhanya Yesodharan, Tatjana Kilo, Janine Smith, Rachel S H Wong, Manoj P Menezes, Sachin Gupta, Sandra T Cooper, Shanti Balasubramaniam
Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy. European journal of human genetics : EJHG 32 (8) (2024)
Rhett G Marchant, Samantha J Bryen, Melanie Bahlo, Anita Cairns, Katherine R Chao, Alastair Corbett, Mark R Davis, Vijay S Ganesh, Roula Ghaoui, Kristi J Jones, Andrew J Kornberg, Monkol Lek, Christina Liang, Daniel G MacArthur, Emily C Oates, Anne O'Donnell-Luria, Gina L O'Grady, Ikeoluwa A Osei-Owusu, Haloom Rafehi, Stephen W Reddel, Richard H Roxburgh, Monique M Ryan, Sarah A Sandaradura, Liam W Scott, Elise Valkanas, Ben Weisburd, Helen Young, Frances J Evesson, Leigh B Waddell, Sandra T Cooper
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone. Annals of clinical and translational neurology (2024)
Monica Hsiung Wojcik, Gabrielle Lemire, Eva Berger, Maha S Zaki, Mariel Wissmann, Wathone Win, Susan M White, Ben Weisburd, Dagmar Wieczorek, Leigh B Waddell, Jeffrey M Verboon, Grace E VanNoy, Ana Töpf, Tiong Yang Tan, Steffen Syrbe, Vincent Strehlow, Volker Straub, Sarah L Stenton, Hana Snow, Moriel Singer-Berk, Josh Silver, Shirlee Shril, Eleanor G Seaby, Ronen Schneider, Vijay G Sankaran, Alba Sanchis-Juan, Kathryn A Russell, Karit Reinson, Gianina Ravenscroft, Maximilian Radtke, Denny Popp, Tilman Polster, Konrad Platzer, Eric A Pierce, Emily M Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei-Owusu, Henry Opperman, Volkan Okur, Kaisa Teele Oja, Melanie O'Leary, Emily O'Heir, Chantal F Morel, Andreas Merkenschlager, Rhett G Marchant, Brian E Mangilog, Jill A Madden, Daniel MacArthur, Alysia Lovgren, Jordan P Lerner-Ellis, Jasmine Lin, Nigel Laing, Friedhelm Hildebrandt, Julia Hentschel, Emily Groopman, Julia Goodrich, Joseph G Gleeson, Roula Ghaoui, Casie A Genetti, Janina Gburek-Augustat, Hanna T Gazda, Vijay S Ganesh, Mythily Ganapathi, Lyndon Gallacher, Jack M Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T Cooper, Wendy K Chung, John Christodoulou, Katherine R Chao, Liam D Cato, Kinga M Bujakowska, Samantha J Bryen, Harrison Brand, Carsten G Bönnemann, Alan H Beggs, Samantha M Baxter, Tobias Bartolomaeus, Pankaj B Agrawal, Michael Talkowski, Christina Austin-Tse, Rami Abou Jamra, Michael J Bamshad, Anne O'Donnell-Luria
Genome Sequencing for Diagnosing Rare Diseases. The New England journal of medicine 390 (21) (2024)
Monica Hsiung Wojcik, Gabrielle Lemire, Eva Berger, Maha S Zaki, Mariel Wissmann, Wathone Win, Susan M White, Ben Weisburd, Dagmar Wieczorek, Leigh B Waddell, Jeffrey M Verboon, Grace E VanNoy, Ana Töpf, Tiong Yang Tan, Steffen Syrbe, Vincent Strehlow, Volker Straub, Sarah L Stenton, Hana Snow, Moriel Singer-Berk, Josh Silver, Shirlee Shril, Eleanor G Seaby, Ronen Schneider, Vijay G Sankaran, Alba Sanchis-Juan, Kathryn A Russell, Karit Reinson, Gianina Ravenscroft, Maximilian Radtke, Denny Popp, Tilman Polster, Konrad Platzer, Eric A Pierce, Emily M Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei-Owusu, Henry Opperman, Volkan Okur, Kaisa Teele Oja, Melanie O'Leary, Emily O'Heir, Chantal F Morel, Andreas Merkenschlager, Rhett G Marchant, Brian E Mangilog, Jill A Madden, Daniel MacArthur, Alysia Lovgren, Jordan P Lerner-Ellis, Jasmine Lin, Nigel Laing, Friedhelm Hildebrandt, Julia Hentschel, Emily Groopman, Julia Goodrich, Joseph G Gleeson, Roula Ghaoui, Casie A Genetti, Janina Gburek-Augustat, Hanna T Gazda, Vijay S Ganesh, Mythily Ganapathi, Lyndon Gallacher, Jack M Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T Cooper, Wendy K Chung, John Christodoulou, Katherine R Chao, Liam D Cato, Kinga M Bujakowska, Samantha J Bryen, Harrison Brand, Carsten G Bönnemann, Alan H Beggs, Samantha M Baxter, Tobias Bartolomaeus, Pankaj B Agrawal, Michael Talkowski, Christina Austin-Tse, Rami Abou Jamra, Michael J Bamshad, Anne O'Donnell-Luria
Genome Sequencing for Diagnosing Rare Diseases. The New England journal of medicine 390 (21) (2024)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
Ana Topf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Harris, Chiara Marini-Bettolo, Jordi Diaz-Manera, Matt Henderson, Rita Barresi, Jennifer Duff, Eleina M England, Jane Patrick, Sundos Al-Husayni, Valerie Biancalana, Alan H Beggs, Istvan Bodi, Shobhana Bommireddipalli, Carsten G Bonnemann, Anita Cairns, Mei-Ting Chiew, Kristl G Claeys, Sandra T Cooper, Mark R Davis, Sandra Donkervoort, Corrie E Erasmus, Mahmoud R Fassad, Casie A Genetti, Carla Grosmann, Heinz Jungbluth, Erik-Jan Kamsteeg, Xavière Lornage, Wolfgang N Löscher, Edoardo Malfatti, Adnan Manzur, Pilar Martí, Tiziana E Mongini, Nuria Muelas, Atsuko Nishikawa, Anne H O'Donnell-Luria, Narumi Ogonuki, Gina L O'Grady, Emily O'Heir, Stéphanie Paquay, Rahul Phadke, Beth A Pletcher, Norma B Romero, Meyke Schouten, Snehal Shah, Izelle Smuts, Yves Sznajer, Giorgio Tasca, Robert W Taylor, Allysa Tuite, Peter Van den Bergh, Grace VanNoy, Nicol C Voermans, Julia V Wanschitz, Elizabeth Wraige, Kimihiko Yoshimura, Emily C Oates, Osamu Nakagawa, Ichizo Nishino, Jocelyn Laporte, Juan Jesus Vilchez, Daniel G MacArthur, Anna Sarkozy, Heather J Cordell, Bjarne Udd, Elisabeth M Busch-Nentwich, Francesco Muntoni, Volker Straub
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature genetics 56 (3) (2024)
Rhett G Marchant, Samantha J Bryen, Melanie Bahlo, Anita Cairns, Katherine R Chao, Alastair Corbett, Mark R Davis, Vijay S Ganesh, Roula Ghaoui, Kristi J Jones, Andrew J Kornberg, Monkol Lek, Christina Liang, Daniel G MacArthur, Emily C Oates, Anne O'Donnell-Luria, Gina L O'Grady, Ikeoluwa A Osei-Owusu, Haloom Rafehi, Stephen W Reddel, Richard H Roxburgh, Monique M Ryan, Sarah A Sandaradura, Liam W Scott, Elise Valkanas, Ben Weisburd, Helen Young, Frances J Evesson, Leigh B Waddell, Sandra T Cooper
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone. Annals of clinical and translational neurology 11 (5) (2024)
Monica Hsiung Wojcik, Gabrielle Lemire, Maha S Zaki, Mariel Wissman, Wathone Win, Sue White, Ben Weisburd, Leigh B Waddell, Jeffrey M Verboon, Grace E VanNoy, Ana Töpf, Tiong Yang Tan, Volker Straub, Sarah L Stenton, Hana Snow, Moriel Singer-Berk, Josh Silver, Shirlee Shril, Eleanor G Seaby, Ronen Schneider, Vijay G Sankaran, Alba Sanchis-Juan, Kathryn A Russell, Karit Reinson, Gianina Ravenscroft, Eric A Pierce, Emily M Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei-Owusu, Volkan Okur, Kaisa Teele Oja, Melanie O'Leary, Emily O'Heir, Chantal Morel, Rhett G Marchant, Brian E Mangilog, Jill A Madden, Daniel MacArthur, Alysia Lovgren, Jordan P Lerner-Ellis, Jasmine Lin, Nigel Laing, Friedhelm Hildebrandt, Emily Groopman, Julia Goodrich, Joseph G Gleeson, Roula Ghaoui, Casie A Genetti, Hanna T Gazda, Vijay S Ganesh, Mythily Ganapathy, Lyndon Gallacher, Jack Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T Cooper, Wendy K Chung, John Chrisodoulou, Katherine R Chao, Liam D Cato, Kinga M Bujakowska, Samantha J Bryen, Harrison Brand, Carsten Bonnemann, Alan H Beggs, Samantha M Baxter, Pankaj B Agrawal, Michael Talkowski, Chrissy Austin-Tse, Heidi L Rehm, Anne O'Donnell-Luria
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. medRxiv : the preprint server for health sciences (2023)
Monica Hsiung Wojcik, Gabrielle Lemire, Maha S Zaki, Mariel Wissman, Wathone Win, Sue White, Ben Weisburd, Leigh B Waddell, Jeffrey M Verboon, Grace E VanNoy, Ana Töpf, Tiong Yang Tan, Volker Straub, Sarah L Stenton, Hana Snow, Moriel Singer-Berk, Josh Silver, Shirlee Shril, Eleanor G Seaby, Ronen Schneider, Vijay G Sankaran, Alba Sanchis-Juan, Kathryn A Russell, Karit Reinson, Gianina Ravenscroft, Eric A Pierce, Emily M Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei-Owusu, Volkan Okur, Kaisa Teele Oja, Melanie O'Leary, Emily O'Heir, Chantal Morel, Rhett G Marchant, Brian E Mangilog, Jill A Madden, Daniel MacArthur, Alysia Lovgren, Jordan P Lerner-Ellis, Jasmine Lin, Nigel Laing, Friedhelm Hildebrandt, Emily Groopman, Julia Goodrich, Joseph G Gleeson, Roula Ghaoui, Casie A Genetti, Hanna T Gazda, Vijay S Ganesh, Mythily Ganapathy, Lyndon Gallacher, Jack Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T Cooper, Wendy K Chung, John Chrisodoulou, Katherine R Chao, Liam D Cato, Kinga M Bujakowska, Samantha J Bryen, Harrison Brand, Carsten Bonnemann, Alan H Beggs, Samantha M Baxter, Pankaj B Agrawal, Michael Talkowski, Chrissy Austin-Tse, Heidi L Rehm, Anne O'Donnell-Luria
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. medRxiv : the preprint server for health sciences (2023)
Patrick Yap, Lisa G Riley, Purvi M Kakadia, Stefan K Bohlander, Ben Curran, Meer Jacob Rahimi, Salam Alburaiky, Ian Hayes, Henry Oppermann, Cristin Print, Sandra T Cooper, Polona Le Quesne Stabej
Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism. European journal of human genetics : EJHG (2023)
Ruebena Dawes, Adam M Bournazos, Samantha J Bryen, Shobhana Bommireddipalli, Rhett G Marchant, Himanshu Joshi, Sandra T Cooper
SpliceVault predicts the precise nature of variant-associated mis-splicing. Nature genetics 55 (2) (2023)
Ruebena Dawes, Adam M Bournazos, Samantha J Bryen, Shobhana Bommireddipalli, Rhett G Marchant, Himanshu Joshi, Sandra T Cooper
SpliceVault predicts the precise nature of variant-associated mis-splicing. Nature genetics 55 (2) (2023)
Monica Hsiung Wojcik, Gabrielle Lemire, Maha S Zaki, Mariel Wissman, Wathone Win, Sue White, Ben Weisburd, Leigh B Waddell, Jeffrey M Verboon, Grace E VanNoy, Ana Töpf, Tiong Yang Tan, Volker Straub, Sarah L Stenton, Hana Snow, Moriel Singer-Berk, Josh Silver, Shirlee Shril, Eleanor G Seaby, Ronen Schneider, Vijay G Sankaran, Alba Sanchis-Juan, Kathryn A Russell, Karit Reinson, Gianina Ravenscroft, Eric A Pierce, Emily M Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei-Owusu, Volkan Okur, Kaisa Teele Oja, Melanie O'Leary, Emily O'Heir, Chantal Morel, Rhett G Marchant, Brian E Mangilog, Jill A Madden, Daniel MacArthur, Alysia Lovgren, Jordan P Lerner-Ellis, Jasmine Lin, Nigel Laing, Friedhelm Hildebrandt, Emily Groopman, Julia Goodrich, Joseph G Gleeson, Roula Ghaoui, Casie A Genetti, Hanna T Gazda, Vijay S Ganesh, Mythily Ganapathy, Lyndon Gallacher, Jack Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T Cooper, Wendy K Chung, John Chrisodoulou, Katherine R Chao, Liam D Cato, Kinga M Bujakowska, Samantha J Bryen, Harrison Brand, Carsten Bonnemann, Alan H Beggs, Samantha M Baxter, Pankaj B Agrawal, Michael Talkowski, Chrissy Austin-Tse, Heidi L Rehm, Anne O'Donnell-Luria
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. medRxiv : the preprint server for health sciences (2023)
Monica Hsiung Wojcik, Gabrielle Lemire, Maha S Zaki, Mariel Wissman, Wathone Win, Sue White, Ben Weisburd, Leigh B Waddell, Jeffrey M Verboon, Grace E VanNoy, Ana Töpf, Tiong Yang Tan, Volker Straub, Sarah L Stenton, Hana Snow, Moriel Singer-Berk, Josh Silver, Shirlee Shril, Eleanor G Seaby, Ronen Schneider, Vijay G Sankaran, Alba Sanchis-Juan, Kathryn A Russell, Karit Reinson, Gianina Ravenscroft, Eric A Pierce, Emily M Place, Sander Pajusalu, Lynn Pais, Katrin Õunap, Ikeoluwa Osei-Owusu, Volkan Okur, Kaisa Teele Oja, Melanie O'Leary, Emily O'Heir, Chantal Morel, Rhett G Marchant, Brian E Mangilog, Jill A Madden, Daniel MacArthur, Alysia Lovgren, Jordan P Lerner-Ellis, Jasmine Lin, Nigel Laing, Friedhelm Hildebrandt, Emily Groopman, Julia Goodrich, Joseph G Gleeson, Roula Ghaoui, Casie A Genetti, Hanna T Gazda, Vijay S Ganesh, Mythily Ganapathy, Lyndon Gallacher, Jack Fu, Emily Evangelista, Eleina England, Sandra Donkervoort, Stephanie DiTroia, Sandra T Cooper, Wendy K Chung, John Chrisodoulou, Katherine R Chao, Liam D Cato, Kinga M Bujakowska, Samantha J Bryen, Harrison Brand, Carsten Bonnemann, Alan H Beggs, Samantha M Baxter, Pankaj B Agrawal, Michael Talkowski, Chrissy Austin-Tse, Heidi L Rehm, Anne O'Donnell-Luria
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis. medRxiv : the preprint server for health sciences (2023)
Ruebena Dawes, Adam M Bournazos, Samantha J Bryen, Shobhana Bommireddipalli, Rhett G Marchant, Himanshu Joshi, Sandra T Cooper
SpliceVault predicts the precise nature of variant-associated mis-splicing. Nature genetics (2023)
Ruebena Dawes, Adam M Bournazos, Samantha J Bryen, Shobhana Bommireddipalli, Rhett G Marchant, Himanshu Joshi, Sandra T Cooper
SpliceVault predicts the precise nature of variant-associated mis-splicing. Nature genetics 55 (2) (2023)
Ruebena Dawes, Adam M Bournazos, Samantha J Bryen, Shobhana Bommireddipalli, Rhett G Marchant, Himanshu Joshi, Sandra T Cooper
SpliceVault predicts the precise nature of variant-associated mis-splicing. Nature genetics 55 (2) (2023)
Ruebena Dawes, Adam M Bournazos, Samantha J Bryen, Shobhana Bommireddipalli, Rhett G Marchant, Himanshu Joshi, Sandra T Cooper
SpliceVault predicts the precise nature of variant-associated mis-splicing. Nature genetics 55 (2) (2023)
Michaela Yuen, Lisa Worgan, Jessika Iwanski, Christopher T Pappas, Himanshu Joshi, Jared M Churko, Susan Arbuckle, Edwin P Kirk, Ying Zhu, Tony Roscioli, Carol C Gregorio, Sandra T Cooper
Neonatal-lethal dilated cardiomyopathy due to a homozygous LMOD2 donor splice-site variant. European journal of human genetics : EJHG 30 (4) (2022)
Ruebena Dawes, Himanshu Joshi, Sandra T Cooper
Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data. Nature communications 13 (1) (2022)
Lauren S Akesson, Adam M Bournazos, Andrew Fennell, Emma I Krzesinski, Kenneth Tan, Amanda Springer, Katherine Rose, Ilias Goranitis, David Francis, Crystle Lee, Fathimath Faiz, Mark R Davis, John Christodoulou, Sebastian Lunke, Zornitza Stark, Matthew F Hunter, Sandra T Cooper
Rapid exome sequencing and adjunct RNA studies confirm the pathogenicity of a novel homozygous ASNS splicing variant in a critically ill neonate. Human mutation 41 (11) (2020)
Ann-Katrin Piper, Reece A Sophocleous, Samuel E Ross, Frances J Evesson, Omar Saleh, Adam Bournazos, Joe Yasa, Claudia Reed, Natalie Woolger, Ronald Sluyter, Peter Greer, Maté Biro, Frances A Lemckert, Sandra T Cooper
Loss of calpains-1 and -2 prevents repair of plasma membrane scrape injuries, but not small pores, and induces a severe muscular dystrophy. American journal of physiology. Cell physiology 318 (6) (2020)
Samantha J Bryen, Emily C Oates, Frances J Evesson, Jessica K Lu, Leigh B Waddell, Himanshu Joshi, Monique M Ryan, Beryl B Cummings, Catriona A McLean, Daniel G MacArthur, Andrew J Kornberg, Sandra T Cooper
Pathogenic deep intronic MTM1 variant activates a pseudo-exon encoding a nonsense codon resulting in severe X-linked myotubular myopathy. European journal of human genetics : EJHG 29 (1) (2020)
Lisa G Riley, Leigh B Waddell, Roula Ghaoui, Frances J Evesson, Beryl B Cummings, Samantha J Bryen, Himanshu Joshi, Min-Xia Wang, Susan Brammah, Leonard Kritharides, Alastair Corbett, Daniel G MacArthur, Sandra T Cooper
Recessive DES cardio/myopathy without myofibrillar aggregates: intronic splice variant silences one allele leaving only missense L190P-desmin. European journal of human genetics : EJHG 27 (8) (2019)
Samantha J Bryen, Lisa J Ewans, Jason Pinner, Suzanna C MacLennan, Sandra Donkervoort, Diana Castro, Ana Töpf, Gina O'Grady, Beryl Cummings, Katherine R Chao, Ben Weisburd, Laurent Francioli, Fathimath Faiz, Adam M Bournazos, Ying Hu, Carla Grosmann, Denise M Malicki, Helen Doyle, Nanna Witting, John Vissing, Kristl G Claeys, Kathryn Urankar, Ana Beleza-Meireles, Julia Baptista, Sian Ellard, Marco Savarese, Mridul Johari, Anna Vihola, Bjarne Udd, Anirban Majumdar, Volker Straub, Carsten G Bönnemann, Daniel G MacArthur, Mark R Davis, Sandra T Cooper
Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. Human mutation 41 (2) (2019)
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)
Sandra T Cooper
Ca2+ and mitochondrial ROS: Both hero and villain in membrane repair. Science signaling 10 (495) (2017)

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Sandra T Cooper