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The primary aim of our research is to identify the genetic factors and biological mechanisms that cause epilepsy. We use a variety of sequencing technologies to identify new genetic causes in both the DNA regions that code for proteins (genes) and those that control the expression of these genes (regulatory regions). The second mission of our lab is to capitalize on the advances in gene discovery in epilepsy to create neuronal models of this disorder. Many of these 'epilepsy' genes are involved in the control of expression of other genes. In other words, they are responsible for switching certain genes ‘on’ or ‘off’ during the development and/or functioning of the brain. This switching is dependent on the 3D structure of DNA – called the epigenome. We use stem cell biology to create models of these ‘epigenetic’ genes to study how mutations affect the structure of the epigenome and the pathways affected. Identifying these pathways are the first step in finding new targets for therapeutics.
研究兴趣
论文共 117 篇作者统计合作学者相似作者
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Maimuna S. Paul,Sydney L. Michener,Hongling Pan, Hiuling Chan,Jessica M. Pfliger,Jill A. Rosenfeld,Vanesa C. Lerma,Alyssa Tran,Megan A. Longley,Richard A. Lewis,Monika Weisz-Hubshman,Mir Reza Bekheirnia,Nasim Bekheirnia,Lauren Massingham,Michae Zech,Matia Wagner,Hartmut Engels,Kirsten Cremer,Elisabeth Mangold,Sophia Peters,Jessica Trautmann,Jessica L. Mester,Maria J. Guillen Sacoto,Richard Person,Pamela P. Mcdonnell,Stacey R. Cohen,Laina Lusk,Ana S. A. Cohen,Jean-Baptiste Le Pichon,Tomi Pastinen,Dihong Zhou,Kendra Engleman, Carolin Racirie,Laurence Faivre,Sebastien Moutton,Anne-Sophie Denomme-Pichon,Hyun Yong Koh,Annapurna Poduri,Jeffrey Bolton,Cordula Knopp, Dong Sun Julia Suh,Andrea Maier,Mehran Beiraghi Toosi,Ehsan Ghayoor Karimiani,Reza Maroofian, Gerald Bradley Schaefer, Vijayalakshmi Ramakumaran,Pradeep Vasudevan,Chitra Prasad,Matthew Osmond,Sarah Schuhmann,Georgia Vasileiou,Sophie Russ-Hall,Ingrid E. Scheffer,Gemma L. Carvill,Heather Mefford,Carlos A. Bacino,Brendan H. Lee,Hsiao-Tuan Chao
AMERICAN JOURNAL OF HUMAN GENETICSno. 1 (2024)
bioRxiv the preprint server for biology (2024)
Stephanie Prince,Emily Bonkowski, Christopher McGraw, Christina SanInocencio,Heather C Mefford,Gemma Carvill, Brian Broadbent
Therapeutic advances in rare disease (2024): 26330040241283749-26330040241283749
Vijay S Ganesh,Kevin Riquin,Nicolas Chatron, Esther Yoon, Kay-Marie Lamar,Miriam C Aziz,Pauline Monin,Melanie C O'Leary,Julia K Goodrich,Kiran V Garimella,Eleina England,Ben Weisburd, François Aguet,Carlos A Bacino,David R Murdock, Hongzheng Dai,Jill A Rosenfeld,Lisa T Emrick,Shamika Ketkar, Yael Sarusi,Damien Sanlaville,Saima Kayani, Brian Broadbent, Alisée Pengam,Bertrand Isidor,Stéphane Bezieau, Benjamin Cogné,Daniel G MacArthur,Igor Ulitsky,Gemma L Carvill,Anne O'Donnell-Luria
The New England journal of medicineno. 16 (2024): 1511-1518
Amy G. Jones, Matilde Aquilino,Rory J. Tinker,Laura Duncan,Zandra Jenkins,Gemma L. Carvill,Stephanie J. Deward,Dorothy K. Grange,Mj Hajianpour,Benjamin J. Halliday,Muriel Holder-Espinasse,Judit Horvath,Silvia Maitz,Vincenzo Nigro,Manuela Morleo,Victoria Paul,Careni Spencer,Alina I. Esterhuizen,Tilman Polster,Alice Spano, Ines Gomez-Lozano,Abhishek Kumar,Gemma Poke,John A. Phillips,Hunter R. Underhill,Gregory Gimenez,Takashi Namba,Stephen P. Robertson
Vijay S Ganesh,Kevin Riquin,Nicolas Chatron,Kay-Marie Lamar,Miriam C Aziz,Pauline Monin,Melanie O'Leary,Julia K Goodrich,Kiran V Garimella,Eleina England,Esther Yoon,Ben Weisburd,Francois Aguet,Carlos A Bacino,David R Murdock,Hongzheng Dai,Jill A Rosenfeld,Lisa T Emrick,Shamika Ketkar,Undiagnosed Diseases Network, Yael Sarusi,Damien Sanlaville,Saima Kayani, Brian Broadbent,Bertrand Isidor, Alisée Pengam,Benjamin Cogné,Daniel G MacArthur,Igor Ulitsky,Gemma L Carvill,Anne O'Donnell-Luria
medRxiv the preprint server for health sciences (2024)
Sara Cabet, Atul Maheshwari,Jeffrey Noebels,Alica Goldman, Mark Farrant, Stuart Cull-Candy,Ian Coombs,Cecile Bats,Julien Courchet,Dorota Studniarczyk, Margot Vallen,Sylvia Stockler, David Koehn,Kristal Louie,Candace Myers,Heather Jaspan, Jennifer Cech, Jason Lockrow, Elizabeth Gerard,Gemma Louise Carvill,Marwan Shinawi,Aida Telegrafi,Lance Rodan,Yuri Zarate,Jillian G. Buchan, Kenzie Pulsifer, Ebba Alkhunaizi,Vanda McNiven, Samantha Olson,Jennifer Morrison,Patricia Wheeler,Kirsty McWalter,Kristin Monaghan,Carrie Costin,Jill A. Rosenfeld,Almuth Caliebe,Nadine Hornig, Hadil Alrohaif,Reem M. Elshafie,Jonathan Levy,Anne-Claude Tabet, Vincent Trebossen, Clothilde Boulay,Gabrielle Rudolf,Bertrand Isidor, Benjamin Cogne,Damien Sanlaville,Gaetan Lesca
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 496-496
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Maimuna S. Paul,Sydney L. Michener,Hongling Pan, Hiuling Chan,Jessica M. Pfliger,Jill A. Rosenfeld,Vanesa C. Lerma,Alyssa Tran,Megan A. Longley,Richard A. Lewis,Monika Weisz-Hubshman,Mir Reza Bekheirnia,Nasim Bekheirnia,Lauren Massingham, Michael Zech, Matias Wagner,Hartmut Engels,Kirsten Cremer,Elisabeth Mangold,Sophia Peters,Jessica Trautmann,Claudia Perne,Jessica L. Mester,Maria J. Guillen Sacoto,Richard Person,Pamela P. McDonnell,Stacey R. Cohen,Laina Lusk,Ana S. A. Cohen,Jean -Baptiste Le Pichon, Tomi Pastinen,Dihong Zhou,Kendra Engleman,Caroline Racine,Laurence Faivre,Sebastien Moutton,Anne -Sophie Denomme-Pichon,Hyun Yong Koh, Annapurna Poduri,Jeffrey Bolton,Cordula Knopp, Dong Sun Julia Suh, Andrea Maier,Mehran Beiraghi Toosi,Ehsan Ghayoor Karimiani, Reza Maroofian, Gerald Bradley Schaefer, Vijayalakshmi Ramakumaran,Pradeep Vasudevan,Benito Banos-Pinero,Alistair T. Pagnamenta,Chitra Prasad,Matthew Osmond,Sarah Schuhmann,Georgia Vasileiou,Sophie Russ-Hall,Ingrid E. Scheffer,Gemma L. Carvill,Heather Mefford,Carlos A. Bacino,Brendan H. Lee,Hsiao-Tuan Chao
AMERICAN JOURNAL OF HUMAN GENETICSno. 6 (2024): 1239-1239
Christy W. Laflamme,Cassandra Rastin,Soham Sengupta, Helen E. Pennington,Sophie J. Russ-Hall,Amy L. Schneider,Emily S. Bonkowski,Edith P. Almanza Fuerte, Talia J. Allan,Miranda Perez-Galey Zalusky,Joy Goffena,Sophia B. Gibson,Denis M. Nyaga,Nico Lieffering,Malavika Hebbar,Emily V. Walker,Daniel Darnell,Scott R. Olsen,Pandurang Kolekar,Mohamed Nadhir Djekidel,Wojciech Rosikiewicz,Haley Mcconkey,Jennifer Kerkhof,Michael A. Levy,Raissa Relator,Dorit Lev,Tally Lerman-Sagie,Kristen L. Park,Marielle Alders,Gerarda Cappuccio,Nicolas Chatron,Leigh Demain,David Genevieve,Gaetan Lesca,Tony Roscioli,Damien Sanlaville,Matthew L. Tedder,Sachin Gupta, Elizabeth A. Jones,Monika Weisz-Hubshman,Shamika Ketkar,Hongzheng Dai,Kim C. Worley,Jill A. Rosenfeld,Hsiao-Tuan Chao,Geoffrey Neale,Gemma L. Carvill, Zhaoming Wang,Samuel F. Berkovic,Lynette G. Sadleir,Danny E. Miller,Ingrid E. Scheffer,Bekim Sadikovic,Heather C. Mefford
NATURE COMMUNICATIONSno. 1 (2024)
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作者统计
#Papers: 118
#Citation: 5977
H-Index: 31
G-Index: 70
Sociability: 7
Diversity: 2
Activity: 50
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