Nicola Whiffin

ORCID

Publication Activity (10 Years)

Years Active: 2020-2024
Publications (10 Years): 45

Top Venues

Nature

Circulation. Genomic and precision medicine

medRxiv : the preprint server for health sciences

bioRxiv : the preprint server for biology

Imperial College London

Institute of Cancer Research (PHD)

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

Affiliation History

Imperial College London Aug 01 2018

United Kingdom

Imperial College Research Fellow :: National Heart and Lung Institute

Broad Institute Apr 01 2018

United States

Visiting Postdoctoral Scholar

MRC Clinical Sciences Centre Jul 01 2016 - Jul 31 2018

United Kingdom

Bioinformatics Postdoctoral Researcher

Education History

Institute of Cancer Research Oct 01 2010 - Jul 31 2014

United Kingdom

PHD :: Genetics and Epidemiology

Publications

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)
Nicola Whiffin
Improving estimates of loss-of-function constraint for short genes. Nature genetics 56 (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 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)
Nechama Wieder, Elston N D'Souza, Alexandra C Martin-Geary, Frederik H Lassen, Jonathan Talbot-Martin, Maria Fernandes, Sonia P Chothani, Owen J L Rackham, Sebastian Schafer, Julie L Aspden, Daniel G MacArthur, Robert W Davies, Nicola Whiffin
Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes. Genome biology 25 (1) (2024)
Nechama Wieder, Elston N D'Souza, Alexandra C Martin-Geary, Frederik H Lassen, Jonathan Talbot-Martin, Maria Fernandes, Sonia P Chothani, Owen J L Rackham, Sebastian Schafer, Julie L Aspden, Daniel G MacArthur, Robert W Davies, Nicola Whiffin
Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes. Genome biology 25 (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 (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, 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)
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)
Nicola Whiffin
Improving estimates of loss-of-function constraint for short genes. Nature genetics (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 (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 (2024)
Nechama Wieder, Elston N D'Souza, Alexandra C Martin-Geary, Frederik H Lassen, Jonathan Talbot-Martin, Maria Fernandes, Sonia P Chothani, Owen J L Rackham, Sebastian Schafer, Julie L Aspden, Daniel G MacArthur, Robert W Davies, Nicola Whiffin
Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes. Genome biology 25 (1) (2024)
Juliana E Gentile, Taylor L Corridon, Meredith A Mortberg, Elston Neil D'Souza, Nicola Whiffin, Eric Vallabh Minikel, Sonia M Vallabh
Modulation of prion protein expression through cryptic splice site manipulation. bioRxiv : the preprint server for biology (2023)
Frederik H Lassen, Samvida S Venkatesh, Nikolas A Baya, Wei Zhou, Alex Bloemendal, Benjamin M Neale, Benedikt Mathias Kessler, Nicola Whiffin, Cecilia M Lindgren, Duncan S Palmer
Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK Biobank. medRxiv : the preprint server for health sciences (2023)
Juliana E Gentile, Taylor L Corridon, Meredith A Mortberg, Elston Neil D'Souza, Nicola Whiffin, Eric Vallabh Minikel, Sonia M Vallabh
Modulation of prion protein expression through cryptic splice site manipulation. bioRxiv : the preprint server for biology (2023)
Mona Allouba, Roddy Walsh, Alaa Afify, Mohammed Hosny, Sarah Halawa, Aya Galal, Mariam Fathy, Pantazis I Theotokis, Ahmed Boraey, Amany Ellithy, Rachel J Buchan, Risha Govind, Nicola Whiffin, Shehab Anwer, Ahmed ElGuindy, James Simon Ware, Paul J R Barton, Magdi H Yacoub, Yasmine Aguib
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy. European heart journal (2023)
Juliana E Gentile, Taylor L Corridon, Meredith A Mortberg, Elston Neil D'Souza, Nicola Whiffin, Eric Vallabh Minikel, Sonia M Vallabh
Modulation of prion protein expression through cryptic splice site manipulation. bioRxiv : the preprint server for biology (2023)
Juliana E Gentile, Taylor L Corridon, Meredith A Mortberg, Elston Neil D'Souza, Nicola Whiffin, Eric Vallabh Minikel, Sonia M Vallabh
Modulation of prion protein expression through cryptic splice site manipulation. bioRxiv : the preprint server for biology (2023)
Alexandra C Martin-Geary, Alexander J M Blakes, Ruebena Dawes, Scott D Findlay, Jenny Lord, Susan Walker, Jonathan Talbot-Martin, Nechama Wieder, Elston N D'Souza, Maria Fernandes, Sarah Hilton, Nayana Lahiri, Christopher Campbell, Sarah Jenkinson, Christian G E L DeGoede, Emily R Anderson, Christopher B Burge, Stephan J Sanders, Jamie Ellingford, Diana Baralle, Siddharth Banka, Nicola Whiffin
Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease. medRxiv : the preprint server for health sciences (2023)
Juliana E Gentile, Taylor L Corridon, Meredith A Mortberg, Elston Neil D'Souza, Nicola Whiffin, Eric Vallabh Minikel, Sonia M Vallabh
Modulation of prion protein expression through cryptic splice site manipulation. bioRxiv : the preprint server for biology (2023)
Juliana E Gentile, Taylor L Corridon, Meredith A Mortberg, Elston Neil D'Souza, Nicola Whiffin, Eric Vallabh Minikel, Sonia M Vallabh
Modulation of prion protein expression through cryptic splice site manipulation. bioRxiv : the preprint server for biology (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)
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)
Jamie M Ellingford, Joo Wook Ahn, Richard D Bagnall, Diana Baralle, Stephanie Barton, Chris Campbell, Kate Downes, Sian Ellard, Celia Duff-Farrier, David R FitzPatrick, John M Greally, Jodie Ingles, Neesha Krishnan, Jenny Lord, Hilary C Martin, William G Newman, Anne O'Donnell-Luria, Simon C Ramsden, Heidi L Rehm, Ebony Richardson, Moriel Singer-Berk, Jenny C Taylor, Maggie Williams, Jordan C Wood, Caroline F Wright, Steven M Harrison, Nicola Whiffin
Recommendations for clinical interpretation of variants found in non-coding regions of the genome. Genome medicine 14 (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)
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 (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 (2022)
Nicola Whiffin, Konrad J Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J Smith, D Gareth Evans, Angharad M Roberts, Nicholas M Quaife, Sebastian Schafer, Owen Rackham, Jessica Alfoldi, Anne H O'Donnell-Luria, Laurent C Francioli, null null, null null, Stuart Alexander Cook, Paul J R Barton, Daniel G MacArthur, James Simon Ware
Author Correction: Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals. Nature communications 12 (1) (2021)
Rafik Tadros, Catherine Francis, Xiao Xu, Alexa M C Vermeer, Andrew R Harper, Roy Huurman, Ken Kelu Bisabu, Roddy Walsh, Edgar T Hoorntje, Wouter P Te Rijdt, Rachel J Buchan, Hannah G van Velzen, Marjon A van Slegtenhorst, Jentien M Vermeulen, Joost Allard Offerhaus, Wenjia Bai, Antonio de Marvao, Najim Lahrouchi, Leander Beekman, Jacco C Karper, Jan Herman Veldink, Elham Kayvanpour, Antonis Pantazis, A John Baksi, Nicola Whiffin, Francesco Mazzarotto, Geraldine Sloane, Hideaki Suzuki, Deborah Schneider-Luftman, Paul Elliott, Pascale Richard, Flavie Ader, Eric Villard, Peter Lichtner, Thomas Meitinger, Michael W T Tanck, van J Peter Tintelen, Andrew Thain, David McCarty, Robert A Hegele, Jason D Roberts, Julie Amyot, Marie-Pierre Dubé, Julia Cadrin-Tourigny, Geneviève Giraldeau, Philippe L L'Allier, Patrick Garceau, Jean-Claude Tardif, S Matthijs Boekholdt, R Thomas Lumbers, Folkert W. Asselbergs, Paul J R Barton, Stuart A Cook, Sanjay K Prasad, Declan P O'Regan, Jolanda van der Velden, Karin J H Verweij, Mario Talajic, Guillaume Lettre, Yigal M Pinto, Benjamin Meder, Philippe Charron, Rudolf A de Boer, Imke Christiaans, Michelle Michels, Arthur A M Wilde, Hugh C Watkins, Paul M Matthews, James Simon Ware, Connie R Bezzina
Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect. Nature genetics 53 (2) (2021)
Nicola Whiffin, Konrad J Karczewski, Xiaolei Zhang, Sonia Chothani, Miriam J Smith, D Gareth Evans, Angharad M Roberts, Nicholas M Quaife, Sebastian Schafer, Owen Rackham, Jessica Alfoldi, Anne H O'Donnell-Luria, Laurent C Francioli, null null, null null, Stuart Alexander Cook, Paul J R Barton, Daniel G MacArthur, James Simon Ware
Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals. Nature communications 11 (1) (2020)
Yasmine Aguib, Mona Allouba, Alaa Afify, Sarah Halawa, Mohamed El-Khatib, Marina Sous, Aya Galal, Eslam Abdelrahman, Nairouz Shehata, Amr El Sawy, Mohamed Elmaghawry, Shehab Anwer, Omnia Kamel, Wesam El Mozy, Hadir Khedr, Ahmed Kharabish, Nagwa Thabet, Pantazis I Theotokis, Rachel J Buchan, Risha Govind, Nicola Whiffin, Roddy Walsh, Heba Aguib, Ahmed Elguindy, Declan P O'Regan, Stuart A Cook, Paul J R Barton, James Simon Ware, Magdi Yacoub
The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort. NPJ genomic medicine 5 (2020)
Nicola Whiffin, Irina M Armean, Aaron Kleinman, Jamie L Marshall, Eric V Minikel, Julia K Goodrich, Nicholas M Quaife, Joanne B Cole, Qingbo S Wang, Konrad J Karczewski, Beryl B Cummings, Laurent C Francioli, Kristen Laricchia, Anna Guan, Babak Alipanahi, Peter Morrison, Marco A S Baptista, Kalpana M Merchant, null null, null null, James Simon Ware, Aki Samuli Havulinna, Bozenna Iliadou, Jung-Jin Lee, Girish N Nadkarni, Cole Whiteman, null null, Mark Daly, Tõnu Esko, Christina Hultman, Ruth J F Loos, Lili A Milani, Aarno Palotie, Carlos Pato, Michele Pato, Danish Saleheen, Patrick F Sullivan, Jessica Alfoldi, Paul Cannon, Daniel G MacArthur
The effect of LRRK2 loss-of-function variants in humans. Nature medicine 26 (6) (2020)

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Nicola Whiffin