Matthew T Wheeler (Matthew Wheeler)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 84

Top Topics

Hypertrophic Cardiomyopathy

Histone Deacetylase

Congenital Heart Disease

Muscular Dystrophy

Top Venues

Circulation. Genomic and precision medicine

medRxiv : the preprint server for health sciences

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology

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

Publications

Sunil K Vasireddi, Tanja Zdolsek Draksler, Arianne Bouman, Joost Kummeling, Matthew T Wheeler, Nicolette Chun, Siddharth Srivastava, Jacqueline Harris, Paul Graham Fisher, Sanjiv M Narayan, Paul J Wang, Nitish Badhwar, Tjitske Kleefstra, Marco Valentin Perez
Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 26 (1) (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N D'Souza, Shan Dong, Jamie M Ellingford, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, Alison G Compton, Chloe Alice Stutterd, Precilla D'Souza, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Carey-Anne Evans, Lisa Ewans, Kimberly M Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Christina L Grant, Tobias Haack, Alma Kuechler, Seema R Lalani, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Paul J Lockhart, Alan Sl Ma, Ellen F Macnamara, Taylor M Maurer, Hector R Mendez, Stephen B Montgomery, Marie-Cécile Nassogne, Serena Neumann, Melanie O'Leary, Emma Elizabeth Palmer, John Phillips, Georgia Pitsava, Ryan Pysar, Michael J Bamshad, Nicolette Chun, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura Clair, Zornitza Stark, Tiong Yang Tan, Natalie B Tan, Suzanna El Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Hsiung Wojcik, Lynne A Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. medRxiv : the preprint server for health sciences (2024)
Callan Russell, MaryAnn Campion, Megan E Grove, Kelly Matsuda, Teri E Klein, Euan A Ashley, Hetanshi Naik, Matthew T Wheeler, Stuart A Scott
Knowledge and attitudes on implementing cardiovascular pharmacogenomic testing. Clinical and translational science 17 (3) (2024)
Sunil K Vasireddi, Tanja Zdolsek Draksler, Arianne Bouman, Joost Kummeling, Matthew T Wheeler, Nicolette Chun, Siddharth Srivastava, Jacqueline Harris, Paul Graham Fisher, Sanjiv M Narayan, Paul J Wang, Nitish Badhwar, Tjitske Kleefstra, Marco Valentin Perez
Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 26 (1) (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton, Susan Walker, Jenny Lord, Gabrielle Lemire, Alexandra C Martin-Geary, Vijay S Ganesh, Jialan Ma, Jamie M Ellingford, Erwan Delage, Elston N D'Souza, Shan Dong, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Ishita Bhatnagar, Ed Blair, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, David John Coman, Alison G Compton, Chloe A Cunningham, Precilla D'Souza, Petr Danecek, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Frances Elmslie, Care-Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Anne Goriely, Christina L Grant, Tobias B Haack, Jenny E Higgs, Anjali Gupta Hinch, Matthew E Hurles, Alma Kuechler, Katherine L Lachlan, Seema R Lalani, François Lecoquierre, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Sarah J Lindsay, Paul J Lockhart, Alan S Ma, Ellen F Macnamara, Sahar Mansour, Taylor M Maurer, Hector R Mendez, Kay Metcalfe, Stephen B Montgomery, Mariya Moosajee, Marie-Cécile Nassogne, Serena Neumann, Michael O'Donoghue, Melanie O'Leary, Elizabeth E Palmer, Nikhil Pattani, John Phillips, Georgia Pitsava, Ryan Pysar, Heidi L Rehm, Chloe M Reuter, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Charles J Shaw-Smith, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Helen S Stewart, Tiong Yang Tan, Natalie B Tan, Suzanna E L Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Pradeep Vasudevan, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Wojcik, Lynne A Wolfe, Zoe Wolfenson, Caroline Fiona Wright, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature 632 (8026) (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton, Susan Walker, Jenny Lord, Gabrielle Lemire, Alexandra C Martin-Geary, Vijay S Ganesh, Jialan Ma, Jamie M Ellingford, Erwan Delage, Elston N D'Souza, Shan Dong, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Ishita Bhatnagar, Ed Blair, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, David John Coman, Alison G Compton, Chloe A Cunningham, Precilla D'Souza, Petr Danecek, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Frances Elmslie, Care-Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Anne Goriely, Christina L Grant, Tobias B Haack, Jenny E Higgs, Anjali Gupta Hinch, Matthew E Hurles, Alma Kuechler, Katherine L Lachlan, Seema R Lalani, François Lecoquierre, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Sarah J Lindsay, Paul J Lockhart, Alan S Ma, Ellen F Macnamara, Sahar Mansour, Taylor M Maurer, Hector R Mendez, Kay Metcalfe, Stephen B Montgomery, Mariya Moosajee, Marie-Cécile Nassogne, Serena Neumann, Michael O'Donoghue, Melanie O'Leary, Elizabeth E Palmer, Nikhil Pattani, John Phillips, Georgia Pitsava, Ryan Pysar, Heidi L Rehm, Chloe M Reuter, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Charles J Shaw-Smith, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Helen S Stewart, Tiong Yang Tan, Natalie B Tan, Suzanna E L Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Pradeep Vasudevan, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Wojcik, Lynne A Wolfe, Zoe Wolfenson, Caroline Fiona Wright, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton, Susan Walker, Jenny Lord, Gabrielle Lemire, Alexandra C Martin-Geary, Vijay S Ganesh, Jialan Ma, Jamie M Ellingford, Erwan Delage, Elston N D'Souza, Shan Dong, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Ishita Bhatnagar, Ed Blair, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, David John Coman, Alison G Compton, Chloe A Cunningham, Precilla D'Souza, Petr Danecek, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Frances Elmslie, Care-Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Anne Goriely, Christina L Grant, Tobias B Haack, Jenny E Higgs, Anjali Gupta Hinch, Matthew E Hurles, Alma Kuechler, Katherine L Lachlan, Seema R Lalani, François Lecoquierre, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Sarah J Lindsay, Paul J Lockhart, Alan S Ma, Ellen F Macnamara, Sahar Mansour, Taylor M Maurer, Hector R Mendez, Kay Metcalfe, Stephen B Montgomery, Mariya Moosajee, Marie-Cécile Nassogne, Serena Neumann, Michael O'Donoghue, Melanie O'Leary, Elizabeth E Palmer, Nikhil Pattani, John Phillips, Georgia Pitsava, Ryan Pysar, Heidi L Rehm, Chloe M Reuter, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Charles J Shaw-Smith, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Helen S Stewart, Tiong Yang Tan, Natalie B Tan, Suzanna E L Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Pradeep Vasudevan, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Wojcik, Lynne A Wolfe, Zoe Wolfenson, Caroline Fiona Wright, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N D'Souza, Shan Dong, Jamie M Ellingford, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, Alison G Compton, Chloe Alice Stutterd, Precilla D'Souza, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Carey-Anne Evans, Lisa Ewans, Kimberly M Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Christina L Grant, Tobias Haack, Alma Kuechler, Seema R Lalani, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Paul J Lockhart, Alan Sl Ma, Ellen F Macnamara, Taylor M Maurer, Hector R Mendez, Stephen B Montgomery, Marie-Cécile Nassogne, Serena Neumann, Melanie O'Leary, Emma Elizabeth Palmer, John Phillips, Georgia Pitsava, Ryan Pysar, Michael J Bamshad, Nicolette Chun, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura Clair, Zornitza Stark, Tiong Yang Tan, Natalie B Tan, Suzanna El Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Hsiung Wojcik, Lynne A Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. medRxiv : the preprint server for health sciences (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton, Susan Walker, Jenny Lord, Gabrielle Lemire, Alexandra C Martin-Geary, Vijay S Ganesh, Jialan Ma, Jamie M Ellingford, Erwan Delage, Elston N D'Souza, Shan Dong, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Ishita Bhatnagar, Ed Blair, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, David John Coman, Alison G Compton, Chloe A Cunningham, Precilla D'Souza, Petr Danecek, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Frances Elmslie, Care-Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Anne Goriely, Christina L Grant, Tobias B Haack, Jenny E Higgs, Anjali Gupta Hinch, Matthew E Hurles, Alma Kuechler, Katherine L Lachlan, Seema R Lalani, François Lecoquierre, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Sarah J Lindsay, Paul J Lockhart, Alan S Ma, Ellen F Macnamara, Sahar Mansour, Taylor M Maurer, Hector R Mendez, Kay Metcalfe, Stephen B Montgomery, Mariya Moosajee, Marie-Cécile Nassogne, Serena Neumann, Michael O'Donoghue, Melanie O'Leary, Elizabeth E Palmer, Nikhil Pattani, John Phillips, Georgia Pitsava, Ryan Pysar, Heidi L Rehm, Chloe M Reuter, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Charles J Shaw-Smith, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Helen S Stewart, Tiong Yang Tan, Natalie B Tan, Suzanna E L Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Pradeep Vasudevan, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Wojcik, Lynne A Wolfe, Zoe Wolfenson, Caroline Fiona Wright, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature 632 (8026) (2024)
Tanner D Jensen, Bohan Ni, Chloe Reuter, John E Gorzynski, Sarah Fazal, Devon E Bonner, Rachel Allison Ungar, Pagé C Goddard, Archana Natarajan Raja, Euan A Ashley, Jonathan A Bernstein, Stephan Zuchner, null null, Michael D Greicius, Stephen B Montgomery, Michael C Schatz, Matthew T Wheeler, Alexis J Battle
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease. medRxiv : the preprint server for health sciences (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton, Susan Walker, Jenny Lord, Gabrielle Lemire, Alexandra C Martin-Geary, Vijay S Ganesh, Jialan Ma, Jamie M Ellingford, Erwan Delage, Elston N D'Souza, Shan Dong, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Ishita Bhatnagar, Ed Blair, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, David John Coman, Alison G Compton, Chloe A Cunningham, Precilla D'Souza, Petr Danecek, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Frances Elmslie, Care-Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Anne Goriely, Christina L Grant, Tobias B Haack, Jenny E Higgs, Anjali Gupta Hinch, Matthew E Hurles, Alma Kuechler, Katherine L Lachlan, Seema R Lalani, François Lecoquierre, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Sarah J Lindsay, Paul J Lockhart, Alan S Ma, Ellen F Macnamara, Sahar Mansour, Taylor M Maurer, Hector R Mendez, Kay Metcalfe, Stephen B Montgomery, Mariya Moosajee, Marie-Cécile Nassogne, Serena Neumann, Michael O'Donoghue, Melanie O'Leary, Elizabeth E Palmer, Nikhil Pattani, John Phillips, Georgia Pitsava, Ryan Pysar, Heidi L Rehm, Chloe M Reuter, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Charles J Shaw-Smith, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Helen S Stewart, Tiong Yang Tan, Natalie B Tan, Suzanna E L Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Pradeep Vasudevan, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Wojcik, Lynne A Wolfe, Zoe Wolfenson, Caroline Fiona Wright, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature (2024)
Rachel Allison Ungar, Pagé C Goddard, Tanner D Jensen, Fabien Degalez, Kevin S Smith, Christopher A Jin, null null, Devon E Bonner, Jonathan A Bernstein, Matthew T Wheeler, Stephen B Montgomery
Impact of genome build on RNA-seq interpretation and diagnostics. medRxiv : the preprint server for health sciences (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton, Susan Walker, Jenny Lord, Gabrielle Lemire, Alexandra C Martin-Geary, Vijay S Ganesh, Jialan Ma, Jamie M Ellingford, Erwan Delage, Elston N D'Souza, Shan Dong, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Ishita Bhatnagar, Ed Blair, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, David John Coman, Alison G Compton, Chloe A Cunningham, Precilla D'Souza, Petr Danecek, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Frances Elmslie, Care-Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Anne Goriely, Christina L Grant, Tobias B Haack, Jenny E Higgs, Anjali Gupta Hinch, Matthew E Hurles, Alma Kuechler, Katherine L Lachlan, Seema R Lalani, François Lecoquierre, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Sarah J Lindsay, Paul J Lockhart, Alan S Ma, Ellen F Macnamara, Sahar Mansour, Taylor M Maurer, Hector R Mendez, Kay Metcalfe, Stephen B Montgomery, Mariya Moosajee, Marie-Cécile Nassogne, Serena Neumann, Michael O'Donoghue, Melanie O'Leary, Elizabeth E Palmer, Nikhil Pattani, John Phillips, Georgia Pitsava, Ryan Pysar, Heidi L Rehm, Chloe M Reuter, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Charles J Shaw-Smith, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Helen S Stewart, Tiong Yang Tan, Natalie B Tan, Suzanna E L Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Pradeep Vasudevan, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Wojcik, Lynne A Wolfe, Zoe Wolfenson, Caroline Fiona Wright, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature 632 (8026) (2024)
Vikki A Krysov, Rachel H Wilson, Nicholas S Ten, Nathan Youlton, Hannah N De Jong, Shirley Sutton, Yong Huang, Nicolette Chun, Megan E Grove, Matthew T Wheeler, Euan A Ashley, Victoria N Parikh
Regional Variation in Cardiovascular Genes Enables a Tractable Genome Editing Strategy. Circulation. Genomic and precision medicine 17 (2) (2024)
Catherine G Ireland, Danielle S Burstein, Sharlene M Day, Anna Axelsson Raja, Mark W Russell, Kenneth G Zahka, Alexandre Pereira, Charles E Canter, Richard G Bach, Matthew T Wheeler, Joseph W Rossano, Anjali Tiku Owens, Henning Bundgaard, Luisa Mestroni, Matthew R G Taylor, Amit R Patel, Ivan Wilmot, Jonathan H Soslow, Jason R Becker, I Yu Giverts, Endel John Orav, Brian Lee Claggett, Kimberly Yee Lin, Carolyn Y Ho
Quality of Life and Exercise Capacity in Early Stage and Subclinical Hypertrophic Cardiomyopathy: A Secondary Analysis of the VANISH Trial. Circulation. Heart failure (2024)
Anjali Tiku Owens, Milind Y Desai, Matthew T Wheeler, Anna Rodonski, Samira M Garonzik, Amy J Sehnert, Sara Saberi
Mavacamten for Obstructive Hypertrophic Cardiomyopathy: Rationale for Clinically Guided Dose Titration to Optimize Individual Response. Journal of the American Heart Association 13 (17) (2024)
Vikki A Krysov, Rachel H Wilson, Nicholas S Ten, Nathan Youlton, Hannah N De Jong, Shirley Sutton, Yong Huang, Nicolette Chun, Megan E Grove, Matthew T Wheeler, Euan A Ashley, Victoria N Parikh
Regional Variation in Cardiovascular Genes Enables a Tractable Genome Editing Strategy. Circulation. Genomic and precision medicine 17 (2) (2024)
Callan Russell, MaryAnn Campion, Megan E Grove, Kelly Matsuda, Teri E Klein, Euan A Ashley, Hetanshi Naik, Matthew T Wheeler, Stuart A Scott
Knowledge and attitudes on implementing cardiovascular pharmacogenomic testing. Clinical and translational science 17 (3) (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N D'Souza, Shan Dong, Jamie M Ellingford, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, Alison G Compton, Chloe Alice Stutterd, Precilla D'Souza, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Carey-Anne Evans, Lisa Ewans, Kimberly M Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Christina L Grant, Tobias Haack, Alma Kuechler, Seema R Lalani, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Paul J Lockhart, Alan Sl Ma, Ellen F Macnamara, Taylor M Maurer, Hector R Mendez, Stephen B Montgomery, Marie-Cécile Nassogne, Serena Neumann, Melanie O'Leary, Emma Elizabeth Palmer, John Phillips, Georgia Pitsava, Ryan Pysar, Michael J Bamshad, Nicolette Chun, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Tiong Yang Tan, Natalie B Tan, Suzanna El Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Hsiung Wojcik, Lynne A Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders. medRxiv : the preprint server for health sciences (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton, Susan Walker, Jenny Lord, Gabrielle Lemire, Alexandra C Martin-Geary, Vijay S Ganesh, Jialan Ma, Jamie M Ellingford, Erwan Delage, Elston N D'Souza, Shan Dong, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Ishita Bhatnagar, Ed Blair, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, David John Coman, Alison G Compton, Chloe A Cunningham, Precilla D'Souza, Petr Danecek, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Frances Elmslie, Care-Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Anne Goriely, Christina L Grant, Tobias B Haack, Jenny E Higgs, Anjali Gupta Hinch, Matthew E Hurles, Alma Kuechler, Katherine L Lachlan, Seema R Lalani, François Lecoquierre, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Sarah J Lindsay, Paul J Lockhart, Alan S Ma, Ellen F Macnamara, Sahar Mansour, Taylor M Maurer, Hector R Mendez, Kay Metcalfe, Stephen B Montgomery, Mariya Moosajee, Marie-Cécile Nassogne, Serena Neumann, Michael O'Donoghue, Melanie O'Leary, Elizabeth E Palmer, Nikhil Pattani, John Phillips, Georgia Pitsava, Ryan Pysar, Heidi L Rehm, Chloe M Reuter, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Charles J Shaw-Smith, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Helen S Stewart, Tiong Yang Tan, Natalie B Tan, Suzanna E L Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Pradeep Vasudevan, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Wojcik, Lynne A Wolfe, Zoe Wolfenson, Caroline Fiona Wright, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature 632 (8026) (2024)
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Tanner D Jensen, Bohan Ni, Chloe M Reuter, John E Gorzynski, Sarah Fazal, Devon E Bonner, Rachel Allison Ungar, Pagé C Goddard, Archana Natarajan Raja, Euan A Ashley, Jonathan A Bernstein, Stephan Zuchner, null null, Michael D Greicius, Stephen B Montgomery, Michael C Schatz, Matthew T Wheeler, Alexis J Battle
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Catherine G Ireland, Danielle S Burstein, Sharlene M Day, Anna Axelsson Raja, Mark W Russell, Kenneth G Zahka, Alexandre Pereira, Charles E Canter, Richard G Bach, Matthew T Wheeler, Joseph W Rossano, Anjali Tiku Owens, Henning Bundgaard, Luisa Mestroni, Matthew R G Taylor, Amit R Patel, Ivan Wilmot, Jonathan H Soslow, Jason R Becker, I Yu Giverts, Endel John Orav, Brian Lee Claggett, Kimberly Yee Lin, Carolyn Y Ho
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Catherine G Ireland, Danielle S Burstein, Sharlene M Day, Anna Axelsson Raja, Mark W Russell, Kenneth G Zahka, Alexandre Pereira, Charles E Canter, Richard G Bach, Matthew T Wheeler, Joseph W Rossano, Anjali Tiku Owens, Henning Bundgaard, Luisa Mestroni, Matthew R G Taylor, Amit R Patel, Ivan Wilmot, Jonathan H Soslow, Jason R Becker, I Yu Giverts, Endel John Orav, Brian Lee Claggett, Kimberly Yee Lin, Carolyn Y Ho
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Sunil K Vasireddi, Tanja Zdolsek Draksler, Arianne Bouman, Joost Kummeling, Matthew T Wheeler, Nicolette Chun, Siddharth Srivastava, Jacqueline Harris, Paul Graham Fisher, Sanjiv M Narayan, Paul J Wang, Nitish Badhwar, Tjitske Kleefstra, Marco Valentin Perez
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Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton, Susan Walker, Jenny Lord, Gabrielle Lemire, Alexandra C Martin-Geary, Vijay S Ganesh, Jialan Ma, Jamie M Ellingford, Erwan Delage, Elston N D'Souza, Shan Dong, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Ishita Bhatnagar, Ed Blair, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, David John Coman, Alison G Compton, Chloe A Cunningham, Precilla D'Souza, Petr Danecek, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Frances Elmslie, Care-Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Anne Goriely, Christina L Grant, Tobias B Haack, Jenny E Higgs, Anjali Gupta Hinch, Matthew E Hurles, Alma Kuechler, Katherine L Lachlan, Seema R Lalani, François Lecoquierre, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Sarah J Lindsay, Paul J Lockhart, Alan S Ma, Ellen F Macnamara, Sahar Mansour, Taylor M Maurer, Hector R Mendez, Kay Metcalfe, Stephen B Montgomery, Mariya Moosajee, Marie-Cécile Nassogne, Serena Neumann, Michael O'Donoghue, Melanie O'Leary, Elizabeth E Palmer, Nikhil Pattani, John Phillips, Georgia Pitsava, Ryan Pysar, Heidi L Rehm, Chloe M Reuter, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Charles J Shaw-Smith, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Helen S Stewart, Tiong Yang Tan, Natalie B Tan, Suzanna E L Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Pradeep Vasudevan, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Wojcik, Lynne A Wolfe, Zoe Wolfenson, Caroline Fiona Wright, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
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Vikki A Krysov, Rachel H Wilson, Nicholas S Ten, Nathan Youlton, Hannah N De Jong, Shirley Sutton, Yong Huang, Nicolette Chun, Megan E Grove, Matthew T Wheeler, Euan A Ashley, Victoria N Parikh
Regional Variation in Cardiovascular Genes Enables a Tractable Genome Editing Strategy. Circulation. Genomic and precision medicine (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N D'Souza, Shan Dong, Jamie M Ellingford, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, Alison G Compton, Chloe Alice Stutterd, Precilla D'Souza, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Carey-Anne Evans, Lisa Ewans, Kimberly M Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Christina L Grant, Tobias Haack, Alma Kuechler, Seema R Lalani, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Paul J Lockhart, Alan Sl Ma, Ellen F Macnamara, Taylor M Maurer, Hector R Mendez, Stephen B Montgomery, Marie-Cécile Nassogne, Serena Neumann, Melanie O'Leary, Emma Elizabeth Palmer, John Phillips, Georgia Pitsava, Ryan Pysar, Michael J Bamshad, Nicolette Chun, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura Clair, Zornitza Stark, Tiong Yang Tan, Natalie B Tan, Suzanna El Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Hsiung Wojcik, Lynne A Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
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Rachel Allison Ungar, Pagé C Goddard, Tanner D Jensen, Fabien Degalez, Kevin S Smith, Christopher A Jin, null null, Devon E Bonner, Jonathan A Bernstein, Matthew T Wheeler, Stephen B Montgomery
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Rachel Allison Ungar, Pagé C Goddard, Tanner D Jensen, Fabien Degalez, Kevin S Smith, Christopher A Jin, null null, Devon E Bonner, Jonathan A Bernstein, Matthew T Wheeler, Stephen B Montgomery
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Callan Russell, MaryAnn Campion, Megan E Grove, Kelly Matsuda, Teri E Klein, Euan A Ashley, Hetanshi Naik, Matthew T Wheeler, Stuart A Scott
Knowledge and attitudes on implementing cardiovascular pharmacogenomic testing. Clinical and translational science 17 (3) (2024)
Michelle Frees, Jennefer N Carter, Matthew T Wheeler, Nicolette Chun
The current landscape of clinical exome and genome reanalysis in the U.S. Journal of genetic counseling (2024)
Rachel Allison Ungar, Pagé C Goddard, Tanner D Jensen, Fabien Degalez, Kevin S Smith, Christopher A Jin, null null, Devon E Bonner, Jonathan A Bernstein, Matthew T Wheeler, Stephen B Montgomery
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Anjali Tiku Owens, Milind Y Desai, Matthew T Wheeler, Anna Rodonski, Samira M Garonzik, Amy J Sehnert, Sara Saberi
Mavacamten for Obstructive Hypertrophic Cardiomyopathy: Rationale for Clinically Guided Dose Titration to Optimize Individual Response. Journal of the American Heart Association (2024)
Rachel Allison Ungar, Pagé C Goddard, Tanner D Jensen, Fabien Degalez, Kevin S Smith, Christopher A Jin, null null, Devon E Bonner, Jonathan A Bernstein, Matthew T Wheeler, Stephen B Montgomery
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Victoria E Rael, Julian A Yano, John P Huizar, Leianna C Slayden, Madeleine A Weiss, Elizabeth A Turcotte, Jacob M Terry, Wenqi Zuo, Isabelle Thiffault, Tomi Pastinen, Emily G Farrow, Janda L Jenkins, Mara L Becker, Stephen C Wong, Anne M Stevens, Catherine E Otten, Eric J Allenspach, Devon E Bonner, Jonathan A Bernstein, Matthew T Wheeler, Robert A Saxton, null null, Bo Liu, Olivia Majer, Gregory M Barton
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans. The Journal of experimental medicine 221 (8) (2024)
Victoria E Rael, Julian A Yano, John P Huizar, Leianna C Slayden, Madeleine A Weiss, Elizabeth A Turcotte, Jacob M Terry, Wenqi Zuo, Isabelle Thiffault, Tomi Pastinen, Emily G Farrow, Janda L Jenkins, Mara L Becker, Stephen C Wong, Anne M Stevens, Catherine E Otten, Eric J Allenspach, Devon E Bonner, Jonathan A Bernstein, Matthew T Wheeler, Robert A Saxton, null null, Bo Liu, Olivia Majer, Gregory M Barton
Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans. The Journal of experimental medicine 221 (8) (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton, Susan Walker, Jenny Lord, Gabrielle Lemire, Alexandra C Martin-Geary, Vijay S Ganesh, Jialan Ma, Jamie M Ellingford, Erwan Delage, Elston N D'Souza, Shan Dong, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Ishita Bhatnagar, Ed Blair, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, David John Coman, Alison G Compton, Chloe A Cunningham, Precilla D'Souza, Petr Danecek, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Frances Elmslie, Care-Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Anne Goriely, Christina L Grant, Tobias B Haack, Jenny E Higgs, Anjali Gupta Hinch, Matthew E Hurles, Alma Kuechler, Katherine L Lachlan, Seema R Lalani, François Lecoquierre, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Sarah J Lindsay, Paul J Lockhart, Alan S Ma, Ellen F Macnamara, Sahar Mansour, Taylor M Maurer, Hector R Mendez, Kay Metcalfe, Stephen B Montgomery, Mariya Moosajee, Marie-Cécile Nassogne, Serena Neumann, Michael O'Donoghue, Melanie O'Leary, Elizabeth E Palmer, Nikhil Pattani, John Phillips, Georgia Pitsava, Ryan Pysar, Heidi L Rehm, Chloe M Reuter, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Charles J Shaw-Smith, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Helen S Stewart, Tiong Yang Tan, Natalie B Tan, Suzanna E L Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Pradeep Vasudevan, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Wojcik, Lynne A Wolfe, Zoe Wolfenson, Caroline Fiona Wright, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome. Nature (2024)
Sunil K Vasireddi, Tanja Zdolsek Draksler, Arianne Bouman, Joost Kummeling, Matthew T Wheeler, Nicolette Chun, Siddharth Srivastava, Jacqueline Harris, Paul Graham Fisher, Sanjiv M Narayan, Paul J Wang, Nitish Badhwar, Tjitske Kleefstra, Marco Valentin Perez
Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 26 (1) (2024)
Sunil K Vasireddi, Tanja Zdolsek Draksler, Arianne Bouman, Joost Kummeling, Matthew T Wheeler, Nicolette Chun, Siddharth Srivastava, Jacqueline Harris, Paul Graham Fisher, Sanjiv M Narayan, Paul J Wang, Nitish Badhwar, Tjitske Kleefstra, Marco Valentin Perez
Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 26 (1) (2024)
Rachel Allison Ungar, Pagé C Goddard, Tanner D Jensen, Fabien Degalez, Kevin S Smith, Christopher A Jin, null null, Devon E Bonner, Jonathan A Bernstein, Matthew T Wheeler, Stephen B Montgomery
Impact of genome build on RNA-seq interpretation and diagnostics. medRxiv : the preprint server for health sciences (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N D'Souza, Shan Dong, Jamie M Ellingford, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, Alison G Compton, Chloe Alice Stutterd, Precilla D'Souza, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Carey-Anne Evans, Lisa Ewans, Kimberly M Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Christina L Grant, Tobias Haack, Alma Kuechler, Seema R Lalani, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Paul J Lockhart, Alan Sl Ma, Ellen F Macnamara, Taylor M Maurer, Hector R Mendez, Stephen B Montgomery, Marie-Cécile Nassogne, Serena Neumann, Melanie O'Leary, Emma Elizabeth Palmer, John Phillips, Georgia Pitsava, Ryan Pysar, Michael J Bamshad, Nicolette Chun, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura Clair, Zornitza Stark, Tiong Yang Tan, Natalie B Tan, Suzanna El Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Hsiung Wojcik, Lynne A Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
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Sofia E Gomez, Marco V Perez, Matthew T Wheeler, David M Hadley, Calvin E Hwang, Andrea Kussman, Daniel Seung Kim, Victor Froelicher
Classification of Premature Ventricular Contractions in Athletes During Routine Preparticipation Exams. Circulation. Arrhythmia and electrophysiology (2024)
Sunil K Vasireddi, Tanja Zdolsek Draksler, Arianne Bouman, Joost Kummeling, Matthew T Wheeler, Nicolette Chun, Siddharth Srivastava, Jacqueline Harris, Paul Graham Fisher, Sanjiv M Narayan, Paul J Wang, Nitish Badhwar, Tjitske Kleefstra, Marco Valentin Perez
Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 26 (1) (2024)
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton, Susan Walker, Jenny Lord, Gabrielle Lemire, Alexandra C Martin-Geary, Vijay S Ganesh, Jialan Ma, Jamie M Ellingford, Erwan Delage, Elston N D'Souza, Shan Dong, David R Adams, Kirsten Allan, Madhura Bakshi, Erin E Baldwin, Seth I Berger, Jonathan A Bernstein, Ishita Bhatnagar, Ed Blair, Natasha J Brown, Lindsay C Burrage, Kimberly Chapman, David John Coman, Alison G Compton, Chloe A Cunningham, Precilla D'Souza, Petr Danecek, Emmanuèle C Délot, Kerith-Rae Dias, Ellen R Elias, Frances Elmslie, Care-Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L Fraser, Lyndon Gallacher, Casie A Genetti, Anne Goriely, Christina L Grant, Tobias B Haack, Jenny E Higgs, Anjali Gupta Hinch, Matthew E Hurles, Alma Kuechler, Katherine L Lachlan, Seema R Lalani, François Lecoquierre, Elsa Leitão, Anna Le Fevre, Richard J Leventer, Jan E Liebelt, Sarah J Lindsay, Paul J Lockhart, Alan S Ma, Ellen F Macnamara, Sahar Mansour, Taylor M Maurer, Hector R Mendez, Kay Metcalfe, Stephen B Montgomery, Mariya Moosajee, Marie-Cécile Nassogne, Serena Neumann, Michael O'Donoghue, Melanie O'Leary, Elizabeth E Palmer, Nikhil Pattani, John Phillips, Georgia Pitsava, Ryan Pysar, Heidi L Rehm, Chloe M Reuter, Nicole Revencu, Angelika Riess, Rocio Rius, Lance Rodan, Tony Roscioli, Jill Anne Rosenfeld, Rani Sachdev, Charles J Shaw-Smith, Cas Simons, Sanjay M Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Helen S Stewart, Tiong Yang Tan, Natalie B Tan, Suzanna E L Temple, David R Thorburn, Cynthia J Tifft, Eloise Uebergang, Grace E VanNoy, Pradeep Vasudevan, Eric Vilain, David H Viskochil, Laura Wedd, Matthew T Wheeler, Susan M White, Monica Wojcik, Lynne A Wolfe, Zoe Wolfenson, Caroline Fiona Wright, Changrui Xiao, David Zocche, John L Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M Fica, Diana Baralle, Christel Depienne, Daniel G MacArthur, Joanna M M Howson, Stephan J Sanders, Anne H O'Donnell-Luria, Nicola Whiffin
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Tanner D Jensen, Bohan Ni, Chloe M Reuter, John E Gorzynski, Sarah Fazal, Devon E Bonner, Rachel Allison Ungar, Pagé C Goddard, Archana Natarajan Raja, Euan A Ashley, Jonathan A Bernstein, Stephan Zuchner, null null, Michael D Greicius, Stephen B Montgomery, Michael C Schatz, Matthew T Wheeler, Alexis J Battle
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease. medRxiv : the preprint server for health sciences (2024)
David Amar, Nicole R Gay, David Jimenez-Morales, Pierre M Jean Beltran, Megan E Ramaker, Archana Natarajan Raja, Bingqing Zhao, Yifei Sun, Shruti Marwaha, David Gaul, Steven G Hershman, Ashley Xia, Ian Lanza, Facundo M Fernández, Stephen B Montgomery, Andrea L Hevener, Euan A Ashley, Martin J Walsh, Lauren Marie Sparks, Charles F Burant, R Scott Rector, John P Thyfault, Matthew T Wheeler, Bennett P Greenwood, Paul M Coen, Simon Schenk, Sue C Bodine, Maléne E Lindholm, null null
The mitochondrial multi-omic response to exercise training across tissues. bioRxiv : the preprint server for biology (2023)
Daniel D Kinnamon, Elizabeth S Jordan, Garrie J Haas, Mark Hofmeyer, Evan P Kransdorf, Gregory A Ewald, Alanna A Morris, Anjali Tiku Owens, Brian D Lowes, Douglas Stoller, Wai Hong Wilson Tang, Sonia Garg, Barry H Trachtenberg, Palak Shah, Salpy V Pamboukian, Nancy K Sweitzer, Matthew T Wheeler, Jane E Wilcox, Stuart D Katz, Stephen Pan, Javier Jimenez, Keith D Aaronson, Daniel P Fishbein, Frank Smart, Jessica J Wang, Stephen S Gottlieb, Daniel P Judge, Charles K Moore, Jonathan O Mead, Gordon S Huggins, Hanyu Ni, Wylie Burke, Ray E Hershberger, null null
Effectiveness of the Family Heart Talk Communication Tool in Improving Family Member Screening for Dilated Cardiomyopathy: Results of a Randomized Trial. Circulation (2023)
Debdeep Dutta, Oguz Kanca, Seul Kee Byeon, Paul C Marcogliese, Zhongyuan Zuo, Rishi V Shridharan, Jun Hyoung Park, null null, Guang Lin, Ming Ge, Gali Heimer, Jennefer N Carter, Matthew T Wheeler, Benny Abraham Kaipparettu, Akhilesh Pandey, Hugo J Bellen
A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels. Nature metabolism (2023)
Yuri Kim, Mitra Mastali, Jennifer E Van Eyk, E John Orav, Christoffer Rasmus Vissing, Sharlene M Day, Anna Axelsson Raja, Mark W Russell, Kenneth Zahka, Harry M Lever, Alexandre da Costa Pereira, Anne M Murphy, Charles E Canter, Richard G Bach, Matthew T Wheeler, Joseph W Rossano, Anjali Tiku Owens, Henning Bundgaard, Lee N Benson, Luisa Mestroni, Matthew R G Taylor, Amit R Patel, Ivan Wilmot, Philip Thrush, Jonathan H Soslow, Jason R Becker, Christine E Seidman, Carolyn Y Ho, null null
Transforming Growth Factor-β Analysis of the VANISH Trial Cohort. Circulation. Heart failure (2023)
Mark Hofmeyer, Garrie J Haas, Elizabeth S Jordan, Jinwen Cao, Evan P Kransdorf, Gregory A Ewald, Alanna A Morris, Anjali Tiku Owens, Brian D Lowes, Douglas Stoller, Wai Hong Wilson Tang, Sonia Garg, Barry H Trachtenberg, Palak Shah, Salpy V Pamboukian, Nancy K Sweitzer, Matthew T Wheeler, Jane E Wilcox, Stuart D Katz, Stephen Pan, Javier Jimenez, Frank Smart, Jessica J Wang, Stephen S Gottlieb, Daniel P Judge, Charles K Moore, Gordon S Huggins, Daniel D Kinnamon, Hanyu Ni, Ray E Hershberger, null null
Rare Variant Genetics and Dilated Cardiomyopathy Severity: The DCM Precision Medicine Study. Circulation (2023)
David Amar, Nicole R Gay, David Jimenez-Morales, Pierre M Jean Beltran, Megan E Ramaker, Archana Natarajan Raja, Bingqing Zhao, Yifei Sun, Shruti Marwaha, David Gaul, Steven G Hershman, Ashley Xia, Ian Lanza, Facundo M Fernández, Stephen B Montgomery, Andrea L Hevener, Euan A Ashley, Martin J Walsh, Lauren Marie Sparks, Charles F Burant, R Scott Rector, John P Thyfault, Matthew T Wheeler, Bennett P Greenwood, Paul M Coen, Simon Schenk, Sue C Bodine, Maléne E Lindholm, null null
The mitochondrial multi-omic response to exercise training across tissues. bioRxiv : the preprint server for biology (2023)
David Amar, Nicole R Gay, David Jimenez-Morales, Pierre M Jean Beltran, Megan E Ramaker, Archana Natarajan Raja, Bingqing Zhao, Yifei Sun, Shruti Marwaha, David Gaul, Steven G Hershman, Ashley Xia, Ian Lanza, Facundo M Fernández, Stephen B Montgomery, Andrea L Hevener, Euan A Ashley, Martin J Walsh, Lauren Marie Sparks, Charles F Burant, R Scott Rector, John P Thyfault, Matthew T Wheeler, Bennett P Greenwood, Paul M Coen, Simon Schenk, Sue C Bodine, Maléne E Lindholm, null null
The mitochondrial multi-omic response to exercise training across tissues. bioRxiv : the preprint server for biology (2023)
Kinya Seo, Yuta Yamamoto, Anna Kirillova, Masataka Kawana, Sunil Yadav, Yong Huang, Qianru Wang, Kerry V Lane, Beth L Pruitt, Marco Valentin Perez, Daniel Bernstein, Joseph C Wu, Matthew T Wheeler, Victoria N Parikh, Euan A Ashley
Improved Cardiac Performance and Decreased Arrhythmia in Hypertrophic Cardiomyopathy With Non-β-Blocking R-Enantiomer Carvedilol. Circulation (2023)
Edgar T Hoorntje, Charlotte Burns, Luisa Marsili, Ben Corden, Victoria N Parikh, Gerard J Te Meerman, Belinda Gray, Ahmet Adiyaman, Richard Douglas Bagnall, Daniela Q C M Barge-Schaapveld, Maarten P van den Berg, Marianne Bootsma, Laurens P Bosman, Gemma Correnti, Johan Duflou, Ruben N Eppinga, Diane Fatkin, Michael Fietz, Eric A Haan, Jan D H Jongbloed, Arnaud D Hauer, Lien Lam, Freyja H M van Lint, Amrit S Lota, Carlo L Marcelis, Hugh J McCarthy, Anneke M van Mil, Rogier A Oldenburg, Nicholas Pachter, R Nils Planken, Nicolette Chun, Christopher Semsarian, Jasper J van der Smagt, Tina Thompson, Jitendra Vohra, Paul G A Volders, Jaap I van Waning, Nicola Whiffin, Arthur van den Wijngaard, Ahmad S Amin, Arthur A M Wilde, Gijs van Woerden, Laura Yeates, Dominica Zentner, Euan A Ashley, Matthew T Wheeler, James Simon Ware, van J Peter Tintelen, Jodie Ingles
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin ( DSP ) Truncating Variant. Circulation. Genomic and precision medicine 16 (1) (2022)
Calum A MacRae, Matthew R G Taylor, Luisa Mestroni, John Moses, Euan A Ashley, Matthew T Wheeler, Neal K Lakdawala, Ray E Hershberger, Victor Sandor, Michael E Saunders, Colleen Oliver, Patrice A Lee, Daniel P Judge
Efficacy and Safety of ARRY-371797 in LMNA -Related Dilated Cardiomyopathy: A Phase 2 Study. Circulation. Genomic and precision medicine 16 (1) (2022)
Maxime Tremblay-Gravel, Kenzo Ichimura, Kermshlise Picard, Yumeko Kawano, Annika M Dries, Francois Haddad, Neal K Lakdawala, Matthew T Wheeler, Victoria N Parikh
Intrinsic Atrial Myopathy Precedes Left Ventricular Dysfunction and Predicts Atrial Fibrillation in Lamin A/C Cardiomyopathy. Circulation. Genomic and precision medicine 16 (1) (2022)
Edgar T Hoorntje, Charlotte Burns, Luisa Marsili, Ben Corden, Victoria N Parikh, Gerard J Te Meerman, Belinda Gray, Ahmet Adiyaman, Richard Douglas Bagnall, Daniela Q C M Barge-Schaapveld, Maarten P van den Berg, Marianne Bootsma, Laurens P Bosman, Gemma Correnti, Johan Duflou, Ruben N Eppinga, Diane Fatkin, Michael Fietz, Eric A Haan, Jan D H Jongbloed, Arnaud D Hauer, Lien Lam, Freyja H M van Lint, Amrit S Lota, Carlo L Marcelis, Hugh J McCarthy, Anneke M van Mil, Rogier A Oldenburg, Nicholas Pachter, R Nils Planken, Nicolette Chun, Christopher Semsarian, Jasper J van der Smagt, Tina Thompson, Jitendra Vohra, Paul G A Volders, Jaap I van Waning, Nicola Whiffin, Arthur van den Wijngaard, Ahmad S Amin, Arthur A M Wilde, Gijs van Woerden, Laura Yeates, Dominica Zentner, Euan A Ashley, Matthew T Wheeler, James Simon Ware, van J Peter Tintelen, Jodie Ingles
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin ( DSP ) Truncating Variant. Circulation. Genomic and precision medicine 16 (1) (2022)
Hannah N De Jong, Frederick E Dewey, Pablo Cordero, Rachelle A Victorio, Anna Kirillova, Yong Huang, Roshni Madhvani, Kinya Seo, Feng Lan, Mark Orcholski, W Robert Liu, Ayca Erbilgin, Matthew T Wheeler, Rui Chen, Stephen Pan, Young M Kim, Krishna Bommakanti, Cherisse A Marcou, J Martijn Bos, Francois Haddad, Michael J Ackerman, Ramachandran S Vasan, Calum A MacRae, Joseph C Wu, Vinicio A de Jesus Perez, Michael Paul Snyder, Victoria N Parikh, Euan A Ashley
Wnt Signaling Interactor WTIP (Wilms Tumor Interacting Protein) Underlies Novel Mechanism for Cardiac Hypertrophy. Circulation. Genomic and precision medicine 15 (4) (2022)
Edgar T Hoorntje, Charlotte Burns, Luisa Marsili, Ben Corden, Victoria N Parikh, Gerard J Te Meerman, Belinda Gray, Ahmet Adiyaman, Richard Douglas Bagnall, Daniela Q C M Barge-Schaapveld, Maarten P van den Berg, Marianne Bootsma, Laurens P Bosman, Gemma Correnti, Johan Duflou, Ruben N Eppinga, Diane Fatkin, Michael Fietz, Eric A Haan, Jan D H Jongbloed, Arnaud D Hauer, Lien Lam, Freyja H M van Lint, Amrit S Lota, Carlo L Marcelis, Hugh J McCarthy, Anneke M van Mil, Rogier A Oldenburg, Nicholas Pachter, R Nils Planken, Nicolette Chun, Christopher Semsarian, Jasper J van der Smagt, Tina Thompson, Jitendra Vohra, Paul G A Volders, Jaap I van Waning, Nicola Whiffin, Arthur van den Wijngaard, Ahmad S Amin, Arthur A M Wilde, Gijs van Woerden, Laura Yeates, Dominica Zentner, Euan A Ashley, Matthew T Wheeler, James Simon Ware, van J Peter Tintelen, Jodie Ingles
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin ( DSP ) Truncating Variant. Circulation. Genomic and precision medicine 16 (1) (2022)
Edgar T Hoorntje, Charlotte Burns, Luisa Marsili, Ben Corden, Victoria N Parikh, Gerard J Te Meerman, Belinda Gray, Ahmet Adiyaman, Richard Douglas Bagnall, Daniela Q C M Barge-Schaapveld, Maarten P van den Berg, Marianne Bootsma, Laurens P Bosman, Gemma Correnti, Johan Duflou, Ruben N Eppinga, Diane Fatkin, Michael Fietz, Eric A Haan, Jan D H Jongbloed, Arnaud D Hauer, Lien Lam, Freyja H M van Lint, Amrit S Lota, Carlo L Marcelis, Hugh J McCarthy, Anneke M van Mil, Rogier A Oldenburg, Nicholas Pachter, R Nils Planken, Nicolette Chun, Christopher Semsarian, Jasper J van der Smagt, Tina Thompson, Jitendra Vohra, Paul G A Volders, Jaap I van Waning, Nicola Whiffin, Arthur van den Wijngaard, Ahmad S Amin, Arthur A M Wilde, Gijs van Woerden, Laura Yeates, Dominica Zentner, Euan A Ashley, Matthew T Wheeler, James Simon Ware, van J Peter Tintelen, Jodie Ingles
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin ( DSP ) Truncating Variant. Circulation. Genomic and precision medicine 16 (1) (2022)
Edgar T Hoorntje, Charlotte Burns, Luisa Marsili, Ben Corden, Victoria N Parikh, Gerard J Te Meerman, Belinda Gray, Ahmet Adiyaman, Richard Douglas Bagnall, Daniela Q C M Barge-Schaapveld, Maarten P van den Berg, Marianne Bootsma, Laurens P Bosman, Gemma Correnti, Johan Duflou, Ruben N Eppinga, Diane Fatkin, Michael Fietz, Eric A Haan, Jan D H Jongbloed, Arnaud D Hauer, Lien Lam, Freyja H M van Lint, Amrit S Lota, Carlo L Marcelis, Hugh J McCarthy, Anneke M van Mil, Rogier A Oldenburg, Nicholas Pachter, R Nils Planken, Nicolette Chun, Christopher Semsarian, Jasper J van der Smagt, Tina Thompson, Jitendra Vohra, Paul G A Volders, Jaap I van Waning, Nicola Whiffin, Arthur van den Wijngaard, Ahmad S Amin, Arthur A M Wilde, Gijs van Woerden, Laura Yeates, Dominica Zentner, Euan A Ashley, Matthew T Wheeler, James Simon Ware, van J Peter Tintelen, Jodie Ingles
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin ( DSP ) Truncating Variant. Circulation. Genomic and precision medicine 16 (1) (2022)
Calum A MacRae, Matthew R G Taylor, Luisa Mestroni, John Moses, Euan A Ashley, Matthew T Wheeler, Neal K Lakdawala, Ray E Hershberger, Victor Sandor, Michael E Saunders, Colleen Oliver, Patrice A Lee, Daniel P Judge
Efficacy and Safety of ARRY-371797 in LMNA -Related Dilated Cardiomyopathy: A Phase 2 Study. Circulation. Genomic and precision medicine 16 (1) (2022)
Maxime Tremblay-Gravel, Kenzo Ichimura, Kermshlise Picard, Yumeko Kawano, Annika M Dries, Francois Haddad, Neal K Lakdawala, Matthew T Wheeler, Victoria N Parikh
Intrinsic Atrial Myopathy Precedes Left Ventricular Dysfunction and Predicts Atrial Fibrillation in Lamin A/C Cardiomyopathy. Circulation. Genomic and precision medicine (2022)
Calum A MacRae, Matthew R G Taylor, Luisa Mestroni, John Moses, Euan A Ashley, Matthew T Wheeler, Neal K Lakdawala, Ray E Hershberger, Victor Sandor, Michael E Saunders, Colleen Oliver, Patrice A Lee, Daniel P Judge
Efficacy and Safety of ARRY-371797 in LMNA -Related Dilated Cardiomyopathy: A Phase 2 Study. Circulation. Genomic and precision medicine 16 (1) (2022)
Edgar T Hoorntje, Charlotte Burns, Luisa Marsili, Ben Corden, Victoria N Parikh, Gerard J Te Meerman, Belinda Gray, Ahmet Adiyaman, Richard Douglas Bagnall, Daniela Q C M Barge-Schaapveld, Maarten P van den Berg, Marianne Bootsma, Laurens P Bosman, Gemma Correnti, Johan Duflou, Ruben N Eppinga, Diane Fatkin, Michael Fietz, Eric A Haan, Jan D H Jongbloed, Arnaud D Hauer, Lien Lam, Freyja H M van Lint, Amrit S Lota, Carlo L Marcelis, Hugh J McCarthy, Anneke M van Mil, Rogier A Oldenburg, Nicholas Pachter, R Nils Planken, Nicolette Chun, Christopher Semsarian, Jasper J van der Smagt, Tina Thompson, Jitendra Vohra, Paul G A Volders, Jaap I van Waning, Nicola Whiffin, Arthur van den Wijngaard, Ahmad S Amin, Arthur A M Wilde, Gijs van Woerden, Laura Yeates, Dominica Zentner, Euan A Ashley, Matthew T Wheeler, James Simon Ware, van J Peter Tintelen, Jodie Ingles
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin ( DSP ) Truncating Variant. Circulation. Genomic and precision medicine 16 (1) (2022)
Matthew T Wheeler, Daniel Jacoby, Perry M Elliott, Sara Saberi, Sheila M Hegde, Neal K Lakdawala, Jonathan Myers, Amy J Sehnert, Jay M Edelberg, Wanying Li, Iacopo Olivotto
Effect of beta-blocker therapy on the response to mavacamten in patients with symptomatic obstructive hypertrophic cardiomyopathy. European journal of heart failure (2022)
Calum A MacRae, Matthew R G Taylor, Luisa Mestroni, John Moses, Euan A Ashley, Matthew T Wheeler, Neal K Lakdawala, Ray E Hershberger, Victor Sandor, Michael E Saunders, Colleen Oliver, Patrice A Lee, Daniel P Judge
Efficacy and Safety of ARRY-371797 in LMNA -Related Dilated Cardiomyopathy: A Phase 2 Study. Circulation. Genomic and precision medicine (2022)
Calum A MacRae, Matthew R G Taylor, Luisa Mestroni, John Moses, Euan A Ashley, Matthew T Wheeler, Neal K Lakdawala, Ray E Hershberger, Victor Sandor, Michael E Saunders, Colleen Oliver, Patrice A Lee, Daniel P Judge
Efficacy and Safety of ARRY-371797 in LMNA -Related Dilated Cardiomyopathy: A Phase 2 Study. Circulation. Genomic and precision medicine (2022)
Edgar T Hoorntje, Charlotte Burns, Luisa Marsili, Ben Corden, Victoria N Parikh, Gerard J Te Meerman, Belinda Gray, Ahmet Adiyaman, Richard Douglas Bagnall, Daniela Q C M Barge-Schaapveld, Maarten P van den Berg, Marianne Bootsma, Laurens P Bosman, Gemma Correnti, Johan Duflou, Ruben N Eppinga, Diane Fatkin, Michael Fietz, Eric A Haan, Jan D H Jongbloed, Arnaud D Hauer, Lien Lam, Freyja H M van Lint, Amrit S Lota, Carlo L Marcelis, Hugh J McCarthy, Anneke M van Mil, Rogier A Oldenburg, Nicholas Pachter, R Nils Planken, Nicolette Chun, Christopher Semsarian, Jasper J van der Smagt, Tina Thompson, Jitendra Vohra, Paul G A Volders, Jaap I van Waning, Nicola Whiffin, Arthur van den Wijngaard, Ahmad S Amin, Arthur A M Wilde, Gijs van Woerden, Laura Yeates, Dominica Zentner, Euan A Ashley, Matthew T Wheeler, James Simon Ware, van J Peter Tintelen, Jodie Ingles
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin ( DSP ) Truncating Variant. Circulation. Genomic and precision medicine (2022)
Edgar T Hoorntje, Charlotte Burns, Luisa Marsili, Ben Corden, Victoria N Parikh, Gerard J Te Meerman, Belinda Gray, Ahmet Adiyaman, Richard Douglas Bagnall, Daniela Q C M Barge-Schaapveld, Maarten P van den Berg, Marianne Bootsma, Laurens P Bosman, Gemma Correnti, Johan Duflou, Ruben N Eppinga, Diane Fatkin, Michael Fietz, Eric A Haan, Jan D H Jongbloed, Arnaud D Hauer, Lien Lam, Freyja H M van Lint, Amrit S Lota, Carlo L Marcelis, Hugh J McCarthy, Anneke M van Mil, Rogier A Oldenburg, Nicholas Pachter, R Nils Planken, Nicolette Chun, Christopher Semsarian, Jasper J van der Smagt, Tina Thompson, Jitendra Vohra, Paul G A Volders, Jaap I van Waning, Nicola Whiffin, Arthur van den Wijngaard, Ahmad S Amin, Arthur A M Wilde, Gijs van Woerden, Laura Yeates, Dominica Zentner, Euan A Ashley, Matthew T Wheeler, James Simon Ware, van J Peter Tintelen, Jodie Ingles
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin ( DSP ) Truncating Variant. Circulation. Genomic and precision medicine 16 (1) (2022)
Maxime Tremblay-Gravel, Kenzo Ichimura, Kermshlise Picard, Yumeko Kawano, Annika M Dries, Francois Haddad, Neal K Lakdawala, Matthew T Wheeler, Victoria N Parikh
Intrinsic Atrial Myopathy Precedes Left Ventricular Dysfunction and Predicts Atrial Fibrillation in Lamin A/C Cardiomyopathy. Circulation. Genomic and precision medicine 16 (1) (2022)
Victoria N Parikh, Alexander G Ioannidis, David Jimenez-Morales, John E Gorzynski, Hannah N De Jong, Xiran Liu, Jonasel A Roque, Victoria P Cepeda-Espinoza, Kazutoyo Osoegawa, Chris Hughes, Shirley C Sutton, Nathan Youlton, Ruchi Joshi, David Amar, Yosuke Tanigawa, Douglas Russo, Justin Wong, Jessie T Lauzon, Jacob Edelson, Daniel Mas Montserrat, Yongchan Kwon, Simone Rubinacci, Olivier Delaneau, Lorenzo Cappello, Jaehee Kim, Massa J Shoura, Archana N Raja, Nathaniel Watson, Nathan Hammond, Elizabeth Spiteri, Kalyan C Mallempati, Gonzalo Montero-Martín, Jeffrey Christle, Jennifer Kim, Anna Kirillova, Kinya Seo, Yong Huang, Chunli Zhao, Sonia Moreno-Grau, Steven G Hershman, Karen P Dalton, Jimmy Zhen, Jack Kamm, Karan D Bhatt, Alina Isakova, Maurizio Morri, Thanmayi Ranganath, Catherine A Blish, Angela J Rogers, Kari Nadeau, Samuel Yang, Andra Blomkalns, Ruth O'Hara, Norma F Neff, Christopher DeBoever, Sandor Szalma, Matthew T Wheeler, Christian M Gates, Kyle Kai-How Farh, Gary P Schroth, Phillip G Febbo, Francis deSouza, Omar E Cornejo, Marcelo Fernandez-Vina, Amy Kistler, Julia A Palacios, Benjamin A Pinsky, Carlos D Bustamante, Manuel A Rivas, Euan A Ashley
Deconvoluting complex correlates of COVID-19 severity with a multi-omic pandemic tracking strategy. Nature communications 13 (1) (2022)
Edgar T Hoorntje, Charlotte Burns, Luisa Marsili, Ben Corden, Victoria N Parikh, Gerard J Te Meerman, Belinda Gray, Ahmet Adiyaman, Richard Douglas Bagnall, Daniela Q C M Barge-Schaapveld, Maarten P van den Berg, Marianne Bootsma, Laurens P Bosman, Gemma Correnti, Johan Duflou, Ruben N Eppinga, Diane Fatkin, Michael Fietz, Eric A Haan, Jan D H Jongbloed, Arnaud D Hauer, Lien Lam, Freyja H M van Lint, Amrit S Lota, Carlo L Marcelis, Hugh J McCarthy, Anneke M van Mil, Rogier A Oldenburg, Nicholas Pachter, R Nils Planken, Nicolette Chun, Christopher Semsarian, Jasper J van der Smagt, Tina Thompson, Jitendra Vohra, Paul G A Volders, Jaap I van Waning, Nicola Whiffin, Arthur van den Wijngaard, Ahmad S Amin, Arthur A M Wilde, Gijs van Woerden, Laura Yeates, Dominica Zentner, Euan A Ashley, Matthew T Wheeler, James Simon Ware, van J Peter Tintelen, Jodie Ingles
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin ( DSP ) Truncating Variant. Circulation. Genomic and precision medicine (2022)
David Amar, Maléne E Lindholm, Jessica Norrbom, Matthew T Wheeler, Manuel A Rivas, Euan A Ashley
Time trajectories in the transcriptomic response to exercise - a meta-analysis. Nature communications 12 (1) (2021)
Carolyn Y Ho, Sharlene M Day, Anna Axelsson, Mark W Russell, Kenneth Zahka, Harry M Lever, Alexandre C Pereira, Steven D Colan, Renee Margossian, Anne M Murphy, Charles Canter, Richard G Bach, Matthew T Wheeler, Joseph W Rossano, Anjali T Owens, Henning Bundgaard, Lee Benson, Luisa Mestroni, Matthew R G Taylor, Amit R Patel, Ivan Wilmot, Philip Thrush, Jose D Vargas, Jonathan H Soslow, Jason R Becker, Christine E Seidman, Neal K Lakdawala, Allison L Cirino, null null, Kristin M Burns, John Joseph Valentine McMurray, Calum A MacRae, Scott D Solomon, E John Orav, Eugene Braunwald
Valsartan in early-stage hypertrophic cardiomyopathy: a randomized phase 2 trial. Nature medicine 27 (10) (2021)
Maléne E Lindholm, David Jimenez-Morales, Han Zhu, Kinya Seo, David Amar, Chunli Zhao, Archana Natarajan Raja, Roshni Madhvani, Sarah A Abramowitz, Cedric Espenel, Shirley C Sutton, Colleen Caleshu, Gerald J Berry, Kara S Motonaga, Kyla Dunn, Julia Platt, Euan A Ashley, Matthew T Wheeler
Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms. Circulation. Genomic and precision medicine (2021)
Marc Jan Bonder, Craig Smail, Michael J Gloudemans, Laure Frésard, David Jakubosky, Matteo D'Antonio, Xin Li, Nicole M Ferraro, Ivan Carcamo-Orive, Bogdan Mirauta, Daniel D Seaton, Na Cai, Dara Vakili, Danilo Horta, Chunli Zhao, Diane B Zastrow, Devon E Bonner, null null, null null, null null, null null, Matthew T Wheeler, Helena Kilpinen, Joshua W Knowles, Erin N Smith, Kelly A Frazer, Stephen B Montgomery, Oliver Stegle
Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics. Nature genetics 53 (3) (2021)
Alexandra Dainis, Kathia Zaleta-Rivera, Alexandre Ribeiro, Andrew Chia Hao Chang, Ching Shang, Feng Lan, Paul W Burridge, W Robert Liu, Joseph C Wu, Alex Chia Yu Chang, Beth L Pruitt, Matthew T Wheeler, Euan Ashley
Silencing of MYH7 ameliorates disease phenotypes in human iPSC-cardiomyocytes. Physiological genomics 52 (7) (2020)
Diane B Zastrow, Jennefer N Carter, Devon E Bonner, Nicolette Chun, Liliana Fernandez, Megan E Grove, Dianna G Fisk, null null, Yaping Yang, Christine M Eng, Patricia A Ward, David Bick, Elizabeth A Worthey, Paul Graham Fisher, Euan A Ashley, Jonathan A Bernstein, Matthew T Wheeler
A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing. Journal of genetic counseling 28 (2) (2020)
John E Gorzynski, Hannah N De Jong, David Amar, Chris R Hughes, Alexander G Ioannidis, Rob Bierman, Darren Liu, Yosuke Tanigawa, Amy L Kistler, Jack Kamm, Jaehee Kim, Lorenzo Cappello, Norma F Neff, Simone Rubinacci, Olivier Delaneau, Massa J Shoura, Kinya Seo, Anna Kirillova, Archana Natarajan Raja, Shirley C Sutton, ChunHong Huang, Malaya Kumar Sahoo, Kalyan C Mallempati, Gonzalo Montero-Martin, Kazutoyo Osoegawa, David Jimenez-Morales, Nathaniel Watson, Nathan Hammond, Ruchi Joshi, Marcelo Fernandez-Vina, Jeffrey W Christle, Matthew T Wheeler, Phil Febbo, Kyle Farh, Gary P Schroth, F Desouza, Julia Palacios, Julia Salzman, Benjamin A Pinsky, Manuel A Rivas, Carlos D Bustamante, Euan A Ashley, Victoria N Parikh
High-throughput SARS-CoV-2 and host genome sequencing from single nasopharyngeal swabs. medRxiv : the preprint server for health sciences (2020)
Akash Kumar, Diane B Zastrow, Elijah J Kravets, Daniah Beleford, Maura R Z Ruzhnikov, Megan E Grove, Annika M Dries, Jennefer N Carter, Daryl M Waggott, Yaping Yang, Yong Huang, null null, Katherine M Mackenzie, Christine M Eng, Paul Graham Fisher, Euan A Ashley, Joyce M Teng, David A Stevenson, Joseph T C Shieh, Matthew T Wheeler, Jonathan A Bernstein
Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review. American journal of medical genetics. Part A 179 (6) (2019)
Laure Frésard, Craig Smail, Nicole M Ferraro, Nicole A Teran, Xin Li, Kevin S Smith, Devon Bonner, Kristin D Kernohan, Shruti Marwaha, Zachary Zappala, Brunilda Balliu, Joe R Davis, Boxiang Liu, Cameron J Prybol, Jennefer N Kohler, Diane B Zastrow, Chloe M Reuter, Dianna G Fisk, Megan E Grove, Jean M Davidson, Taila Hartley, Ruchi Joshi, Benjamin J Strober, Sowmithri Utiramerur, null null, null null, Lars Lind, Erik Ingelsson, Alexis Battle, Gill Bejerano, Jonathan A Bernstein, Euan A Ashley, Kym M Boycott, Jason D Merker, Matthew T Wheeler, Stephen B Montgomery
Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts. Nature medicine 25 (6) (2019)