Nicole Revencu

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 38

Top Venues

Nature

Orphanet journal of rare diseases

American journal of medical genetics. Part A

Human molecular genetics

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

Publications

Nicole Revencu, Astrid Eijkelenboom, Claire Bracquemart, Pia Alhopuro, Judith Armstrong, Eulalia Baselga, Claudia Cesario, Maria Lisa Dentici, Melanie Eyries, Sofia Frisk, Helena Gásdal Karstensen, Nagore Gene-Olaciregui, Sirpa Kivirikko, Cinzia Lavarino, Inger-Lise Mero, Rodolphe Michiels, Elisa Pisaneschi, Bitten Schönewolf-Greulich, Ilse Wieland, Martin Zenker, Miikka Vikkula
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA. Orphanet journal of rare diseases 19 (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)
Martina De Bortoli, Marta Ivars, Nicole Revencu, Marie-Cécile Nassogne, Cinzia Lavarino, Sonia Paco, Martin M Y Lammens, Anne Renders, Dana Dumitriu, Raphaël Helaers, Laurence M Boon, Eulalia Baselga, Miikka Vikkula
Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants. American journal of medical genetics. Part A 194 (6) (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)
Murat Alpaslan, Elodie Fastré, Sandrine Mestre, Arie van Haeringen, Gabriela M Repetto, Kathelijn Keymolen, Laurence M Boon, Florence Belva, Guido Giacalone, Nicole Revencu, Yves Sznajer, Katie Riches, Vaughan Keeley, Shehla Mohammed, Kristiana Gordon, Silvia Martin-Almedina, Sara E Dobbins, Pia Ostergaard, Isabelle Quéré, Pascal Brouillard, Miikka Vikkula
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. Human molecular genetics 33 (14) (2024)
Josephina A N Meester, Anne Hebert, Maaike Bastiaansen, Laura Rabaut, Jarl Bastianen, Nele Boeckx, Kathryn Ashcroft, Paldeep S Atwal, Antoine Benichou, Clarisse Billon, Jan D Blankensteijn, Paul Brennan, Stephanie A Bucks, Ian M Campbell, Solène Conrad, Stephanie L Curtis, Majed Dasouki, Carolyn L Dent, James Eden, Himanshu Goel, Verity Hartill, Arjan C Houweling, Bertrand Isidor, Nicola Jackson, Pieter Koopman, Anita Korpioja, Minna Kraatari, Liina Kuulavainen, Kelvin Lee, Karen J Low, Alan C Lu, Morgan L McManus, Stephen P Oakley, James Oliver, Nicole M Organ, Eline Overwater, Nicole Revencu, Alison H Trainer, Bhavya Trivedi, Claire L S Turner, Rebecca Whittington, Andreas Zankl, Dominica Zentner, Lut Van Laer, Aline Verstraeten, Bart L Loeys
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome. NPJ genomic medicine 9 (1) (2024)
Martina De Bortoli, Marta Ivars, Nicole Revencu, Marie-Cécile Nassogne, Cinzia Lavarino, Sonia Paco, Martin M Y Lammens, Anne Renders, Dana Dumitriu, Raphaël Helaers, Laurence M Boon, Eulalia Baselga, Miikka Vikkula
Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants. American journal of medical genetics. Part A 194 (6) (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)
Murat Alpaslan, Elodie Fastré, Sandrine Mestre, Arie van Haeringen, Gabriela M Repetto, Kathelijn Keymolen, Laurence M Boon, Florence Belva, Guido Giacalone, Nicole Revencu, Yves Sznajer, Katie Riches, Vaughan Keeley, Shehla Mohammed, Kristiana Gordon, Silvia Martin-Almedina, Sara E Dobbins, Pia Ostergaard, Isabelle Quéré, Pascal Brouillard, Miikka Vikkula
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. Human molecular genetics 33 (14) (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)
Emmanuel Seront, Antoine Froidure, Nicole Revencu, Valerie Dekeuleneer, Philippe R M Clapuyt, Dana Dumitriu, Miikka Vikkula, Laurence M Boon
Targeted treatment in complex lymphatic anomaly: a case of synergistic efficacy of trametinib and sirolimus. Orphanet journal of rare diseases 19 (1) (2024)
Josephina A N Meester, Anne Hebert, Maaike Bastiaansen, Laura Rabaut, Jarl Bastianen, Nele Boeckx, Kathryn Ashcroft, Paldeep S Atwal, Antoine Benichou, Clarisse Billon, Jan D Blankensteijn, Paul Brennan, Stephanie A Bucks, Ian M Campbell, Solène Conrad, Stephanie L Curtis, Majed Dasouki, Carolyn L Dent, James Eden, Himanshu Goel, Verity Hartill, Arjan C Houweling, Bertrand Isidor, Nicola Jackson, Pieter Koopman, Anita Korpioja, Minna Kraatari, Liina Kuulavainen, Kelvin Lee, Karen J Low, Alan C Lu, Morgan L McManus, Stephen P Oakley, James Oliver, Nicole M Organ, Eline Overwater, Nicole Revencu, Alison H Trainer, Bhavya Trivedi, Claire L S Turner, Rebecca Whittington, Andreas Zankl, Dominica Zentner, Lut Van Laer, Aline Verstraeten, Bart L Loeys
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome. NPJ genomic medicine 9 (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)
Josephina A N Meester, Anne Hebert, Maaike Bastiaansen, Laura Rabaut, Jarl Bastianen, Nele Boeckx, Kathryn Ashcroft, Paldeep S Atwal, Antoine Benichou, Clarisse Billon, Jan D Blankensteijn, Paul Brennan, Stephanie A Bucks, Ian M Campbell, Solène Conrad, Stephanie L Curtis, Majed Dasouki, Carolyn L Dent, James Eden, Himanshu Goel, Verity Hartill, Arjan C Houweling, Bertrand Isidor, Nicola Jackson, Pieter Koopman, Anita Korpioja, Minna Kraatari, Liina Kuulavainen, Kelvin Lee, Karen J Low, Alan C Lu, Morgan L McManus, Stephen P Oakley, James Oliver, Nicole M Organ, Eline Overwater, Nicole Revencu, Alison H Trainer, Bhavya Trivedi, Claire L S Turner, Rebecca Whittington, Andreas Zankl, Dominica Zentner, Lut Van Laer, Aline Verstraeten, Bart L Loeys
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome. NPJ genomic medicine 9 (1) (2024)
Emmanuel Seront, Antoine Froidure, Nicole Revencu, Valerie Dekeuleneer, Philippe R M Clapuyt, Dana Dumitriu, Miikka Vikkula, Laurence M Boon
Targeted treatment in complex lymphatic anomaly: a case of synergistic efficacy of trametinib and sirolimus. Orphanet journal of rare diseases 19 (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)
Murat Alpaslan, Elodie Fastré, Sandrine Mestre, Arie van Haeringen, Gabriela M Repetto, Kathelijn Keymolen, Laurence M Boon, Florence Belva, Guido Giacalone, Nicole Revencu, Yves Sznajer, Katie Riches, Vaughan Keeley, Shehla Mohammed, Kristiana Gordon, Silvia Martin-Almedina, Sara E Dobbins, Pia Ostergaard, Isabelle Quéré, Pascal Brouillard, Miikka Vikkula
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. Human molecular genetics 33 (14) (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)
Murat Alpaslan, Elodie Fastré, Sandrine Mestre, Arie van Haeringen, Gabriela M Repetto, Kathelijn Keymolen, Laurence M Boon, Florence Belva, Guido Giacalone, Nicole Revencu, Yves Sznajer, Katie Riches, Vaughan Keeley, Shehla Mohammed, Kristiana Gordon, Silvia Martin-Almedina, Sara E Dobbins, Pia Ostergaard, Isabelle Quéré, Pascal Brouillard, Miikka Vikkula
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. Human molecular genetics 33 (14) (2024)
Martina De Bortoli, Marta Ivars, Nicole Revencu, Marie-Cécile Nassogne, Cinzia Lavarino, Sonia Paco, Martin M Y Lammens, Anne Renders, Dana Dumitriu, Raphaël Helaers, Laurence M Boon, Eulalia Baselga, Miikka Vikkula
Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants. American journal of medical genetics. Part A 194 (6) (2024)
Nicole Revencu, Astrid Eijkelenboom, Claire Bracquemart, Pia Alhopuro, Judith Armstrong, Eulalia Baselga, Claudia Cesario, Maria Lisa Dentici, Melanie Eyries, Sofia Frisk, Helena Gásdal Karstensen, Nagore Gene-Olaciregui, Sirpa Kivirikko, Cinzia Lavarino, Inger-Lise Mero, Rodolphe Michiels, Elisa Pisaneschi, Bitten Schönewolf-Greulich, Ilse Wieland, Martin Zenker, Miikka Vikkula
Assessment of gene-disease associations and recommendations for genetic testing for somatic variants in vascular anomalies by VASCERN-VASCA. Orphanet journal of rare diseases 19 (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)
Martina De Bortoli, Marta Ivars, Nicole Revencu, Marie-Cécile Nassogne, Cinzia Lavarino, Sonia Paco, Martin M Y Lammens, Anne Renders, Dana Dumitriu, Raphaël Helaers, Laurence M Boon, Eulalia Baselga, Miikka Vikkula
Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants. American journal of medical genetics. Part A (2024)
Emmanuel Seront, Antoine Froidure, Nicole Revencu, Valerie Dekeuleneer, Philippe R M Clapuyt, Dana Dumitriu, Miikka Vikkula, Laurence M Boon
Targeted treatment in complex lymphatic anomaly: a case of synergistic efficacy of trametinib and sirolimus. Orphanet journal of rare diseases 19 (1) (2024)
Martina De Bortoli, Marta Ivars, Nicole Revencu, Marie-Cécile Nassogne, Cinzia Lavarino, Sonia Paco, Martin M Y Lammens, Anne Renders, Dana Dumitriu, Raphaël Helaers, Laurence M Boon, Eulalia Baselga, Miikka Vikkula
Epilepsy with faint capillary malformation or reticulated telangiectasia associated with mosaic AKT3 pathogenic variants. American journal of medical genetics. Part A (2024)
Murat Alpaslan, Elodie Fastré, Sandrine Mestre, Arie van Haeringen, Gabriela M Repetto, Kathelijn Keymolen, Laurence M Boon, Florence Belva, Guido Giacalone, Nicole Revencu, Yves Sznajer, Katie Riches, Vaughan Keeley, Shehla Mohammed, Kristiana Gordon, Silvia Martin-Almedina, Sara E Dobbins, Pia Ostergaard, Isabelle Quéré, Pascal Brouillard, Miikka Vikkula
Pathogenic variants in HGF give rise to childhood-to-late onset primary lymphoedema by loss of function. Human molecular 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)
Emmanuel Seront, Antoine Froidure, Nicole Revencu, Valerie Dekeuleneer, Philippe R M Clapuyt, Dana Dumitriu, Miikka Vikkula, Laurence M Boon
Targeted treatment in complex lymphatic anomaly: a case of synergistic efficacy of trametinib and sirolimus. Orphanet journal of rare diseases 19 (1) (2024)
Valerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, Annick Massart, Julie Soblet, Camille Perazzolo, Nicolas Deconinck, Elise Brischoux-Boucher, Anne De Leener, Nicole Revencu, Sandra Janssens, Stèphanie Moorgat, Bettina Blaumeiser, Kristiina Avela, Renaud Touraine, Imad Abou Jaoude, Kathelijn Keymolen, Pascale Saugier-Veber, Tom Lenaerts, Marc Abramowicz, Isabelle Pirson
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance. Human genomics 17 (1) (2023)
Valerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, Annick Massart, Julie Soblet, Camille Perazzolo, Nicolas Deconinck, Elise Brischoux-Boucher, Anne De Leener, Nicole Revencu, Sandra Janssens, Stèphanie Moorgat, Bettina Blaumeiser, Kristiina Avela, Renaud Touraine, Imad Abou Jaoude, Kathelijn Keymolen, Pascale Saugier-Veber, Tom Lenaerts, Marc Abramowicz, Isabelle Pirson
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance. Human genomics 17 (1) (2023)
Valerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, Annick Massart, Julie Soblet, Camille Perazzolo, Nicolas Deconinck, Elise Brischoux-Boucher, Anne De Leener, Nicole Revencu, Sandra Janssens, Stèphanie Moorgat, Bettina Blaumeiser, Kristiina Avela, Renaud Touraine, Imad Abou Jaoude, Kathelijn Keymolen, Pascale Saugier-Veber, Tom Lenaerts, Marc Abramowicz, Isabelle Pirson
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance. Human genomics 17 (1) (2023)
Alicia B Byrne, Pascal Brouillard, Drew L Sutton, Jan Kazenwadel, Saba Montazaribarforoushi, Genevieve A Secker, Anna Oszmiana, Milena Babic, Kelly L Betterman, Peter J Brautigan, Melissa White, Sandra G Piltz, Paul Q Thomas, Christopher N Hahn, Matthias Rath, Ute Felbor, G Christoph Korenke, Christopher L Smith, Kathleen H Wood, Sarah E Sheppard, Denise M Adams, Ariana Kariminejad, Raphaël Helaers, Laurence M Boon, Nicole Revencu, Lynette Moore, Christopher P Barnett, Eric Haan, Peer Arts, Miikka Vikkula, Hamish S Scott, Natasha L Harvey
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedema. Science translational medicine 14 (634) (2022)
Anne Dompmartin, Catharina Joanna Maria van der Vleuten, Valerie Dekeuleneer, Thierry Duprez, Nicole Revencu, Julie Désir, D Maroeska W M Te Loo, Uta E Flucke, Astrid Eijkelenboom, Leo Schultze Kool, Miikka Vikkula, Laurence M Boon
GNA11-mutated Sturge-Weber syndrome has distinct neurological and dermatological features. European journal of neurology 29 (10) (2022)
Tessi Beyltjens, Eveline Boudin, Nicole Revencu, Nele Boeckx, Miriam Bertrand, Leon Schütz, Tobias B Haack, Axel Weber, Eleni Biliouri, Mateja Vinkšel, Anja Zagožen, Borut Peterlin, Shashidhar Pai, Aida Telegrafi, Lindsay B Henderson, Courtney Ells, Lesley Turner, Wim Wuyts, Wim Van Hul, Gretl Hendrickx, Geert R Mortier
Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia. Journal of medical genetics (2022)
Veli-Matti Leppänen, Pascal Brouillard, Emilia A Korhonen, Tuomas Sipilä, Sawan Kumar Jha, Nicole Revencu, Veerle Labarque, Elodie Fastré, Matthieu Schlögel, Marie Ravoet, Amihood Singer, Claudia Luzzatto, Donatella Angelone, Giovanni Crichiutti, Angela D'Elia, Jaakko Kuurne, Harri Elamaa, Gou Young Koh, Pipsa Saharinen, Miikka Vikkula, Kari Alitalo
Characterization of ANGPT2 mutations associated with primary lymphedema. Science translational medicine 12 (560) (2021)
Tzung-Chien Hsieh, Martin Atta Mensah, Jean Tori Pantel, Dione Aguilar-Y-Mendez, Omri Bar, Allan Bayat, Luis Becerra-Solano, Heidi Beate Bentzen, Saskia Biskup, Oleg V Borisov, Oivind Braaten, Claudia Ciaccio, Marie Coutelier, Kirsten Cremer, Magdalena Danyel, Svenja Daschkey, Hilda David Eden, Koenraad Devriendt, Sandra Wilson, Sofia Douzgou, Dejan Đukić, Nadja Ehmke, Christine Fauth, Björn Fischer-Zirnsak, Nicole Fleischer, Heinz Gabriel, Luitgard Graul-Neumann, Karen W Gripp, Yaron Gurovich, Asya Gusina, Nechama Haddad, Nurulhuda Hajjir, Yair Hanani, Jakob Hertzberg, Konstanze Hoertnagel, Janelle Howell, Ivan Ivanovski, Angela Kaindl, Tom Kamphans, Susanne Kamphausen, Catherine Karimov, Hadil Kathom, Anna Keryan, Alexej Knaus, Sebastian Köhler, Uwe Kornak, Alexander V Lavrov, Maximilian Leitheiser, Gholson J Lyon, Elisabeth Mangold, Purificación Marín Reina, Antonio Martinez Carrascal, Diana Mitter, Laura Morlan Herrador, Guy Nadav, Markus Maria Nöthen, Alfredo Orrico, Claus-Eric Ott, Kristen L Park, Borut Peterlin, Laura Pölsler, Annick Raas-Rothschild, Linda Randolph, Nicole Revencu, Christina Ringmann Fagerberg, Peter Nick Robinson, Stanislav Rosnev, Sabine Rudnik, Gorazd Rudolf, Ulrich Schatz, Anna Schossig, Max Schubach, Or Shanoon, Eamonn Sheridan, Pola Smirin-Yosef, Malte Spielmann, Eun-Kyung Suk, Yves Sznajer, Christian T Thiel, Gundula Thiel, Alain Verloes, Irena Vrecar, Dagmar Wahl, Ingrid Távora Weber, Korina Winter, Marzena Wiśniewska, Bernd Wollnik, Ming Wai Yeung, Max Zhao, Na Zhu, Johannes Zschocke, Stefan Mundlos, Denise Horn, Peter M Krawitz
PEDIA: prioritization of exome data by image analysis. Genetics in medicine : official journal of the American College of Medical Genetics 21 (12) (2019)
Nicole Revencu, Elodie Fastre, Marie Ravoet, Raphaël Helaers, Pascal Brouillard, Annouk Bisdorff-Bresson, Clara W T Chung, Marion Gerard, Veronika Dvorakova, Alan D Irvine, Laurence M Boon, Miikka Vikkula
RASA1 mosaic mutations in patients with capillary malformation-arteriovenous malformation. Journal of medical genetics 57 (1) (2019)

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Nicole Revencu