Frances Elmslie

ORCID

Publication Activity (10 Years)

Years Active: 2021-2024
Publications (10 Years): 15

Top Venues

Nature

Science advances

European journal of human genetics : EJHG

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

Publications

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, 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 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 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, 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)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Sarah E Sheppard, Laura Bryant, Rochelle N Wickramasekara, Courtney Vaccaro, Brynn Robertson, Jodi Hallgren, Jason Hulen, Cynthia J Watson, Víctor Faundes, Yannis Duffourd, Pearl Lee, M Celeste Simon, Xavier de la Cruz, Natália Padilla, Marco Flores-Mendez, Naiara Akizu, Jacqueline Smiler, Renata Pellegrino Da Silva, Dong Li, Michael E March, Abdias Diaz-Rosado, Isabella Peixoto de Barcelos, Zhao Xiang Choa, Chin Yan Lim, Christele Dubourg, Hubert Journel, Florence Demurger, Maureen S Mulhern, Cigdem Akman, Natalie Lippa, Marisa V Andrews, Dustin Baldridge, John N Constantino, Arie van Haeringen, Irina Snoeck-Streef, Penny Chow, Anne Hing, John M Graham, Margaret Au, Laurence Olivier-Faivre, Wei Shen, Rong Mao, Janice Palumbos, David Viskochil, William A Gahl, Cynthia J Tifft, Ellen F Macnamara, Natalie Hauser, Rebecca Miller, Jessica Maffeo, Alexandra Afenjar, Diane Doummar, Boris Keren, Pamela Arn, Sarah K Macklin, Ilse Meerschaut, Bert Callewaert, André Reis, Christiane Zweier, Carole Brewer, Anand Saggar, Marie F Smeland, Ajith Kumar, Frances Elmslie, Charu Deshpande, Mathilde Nizon, Benjamin Cogne, Yvette van Ierland, Martina Wilke, Marjon van Slegtenhorst, Suzanne Koudijs, Jin Yun Chen, David Dredge, Danielle Pier, Saskia B Wortmann, Erik-Jan Kamsteeg, Johannes Koch, Devon Haynes, Lynda Pollack, Hannah Titheradge, Kara Ranguin, Anne Sophie Denommé-Pichon, Sacha Weber, Rubén Pérez de la Fuente, Jaime Sánchez Del Pozo, Jose Miguel Lezana Rosales, Pascal Joset, Katharina Steindl, Anita Rauch, Davide Mei, Francesco Mari, Renzo Guerrini, James Lespinasse, Frédéric Tran Mau Them, Christophe Philippe, Benjamin Dauriat, Laure Raymond, Sebastien Moutton, Anna Maria Cueto-González, Tiong Yang Tan, Cyril Mignot, Sarah Grotto, Florence Renaldo, Theodore G Drivas, Laura Hennessy, Anna Raper, Ilaria Parenti, Frank J Kaiser, Alma Kuechler, Øyvind L Busk, Lily Islam, Jacob A Siedlik, Lindsay B Henderson, Jane Juusola, Richard Person, Rhonda E Schnur, Antonio Vitobello, Siddharth Banka, Elizabeth Joyce Bhoj, Holly A F Stessman
Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Science advances 9 (10) (2023)
Sandra Whalen, Marie Shaw, Cyril Mignot, Delphine Héron, Sandra Chantot Bastaraud, Cecile Cieuta Walti, Jan Liebelt, Frances Elmslie, Patrick Yap, Jane Hurst, Elisabeth Forsythe, Brian Kirmse, Jillian Ozmore, Alessandro Mauro Spinelli, Olga Calabrese, Thierry Billette de Villemeur, Anne Claude Tabet, Jonathan Levy, Agnes Guet, Manoëlle Kossorotoff, Benjamin Kamien, Jenny Morton, Anne McCabe, Elise Brischoux-Boucher, Annick Raas-Rothschild, Antonella Pini, Renée Carroll, Jessica N Hartley, null null, Patrick Frosk, Anne Slavotinek, Kristen Truxal, Jennifer Carroll, Annelies Dheedene, Hong Cui, Vishal Kumar, Glen Thomson, Florence Riccardi, Jozef Gecz, Laurent Villard
Further delineation of BCAP31-linked intellectual disability: description of 17 new families with LoF and missense variants. European journal of human genetics : EJHG 29 (9) (2021)

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Frances Elmslie