Gemma L Carvill

None None 12 collaborations

Heather C Mefford 11 collaborations

Ingrid E Scheffer 10 collaborations

Jeffrey D Calhoun 6 collaborations

Miriam C Aziz 5 collaborations

Hannah C Happ 4 collaborations

Gaetan Lesca 4 collaborations

Jill A Rosenfeld 4 collaborations

Lynette G Sadleir 4 collaborations

Amy L Schneider 3 collaborations

Nicolas Chatron 3 collaborations

Damien Sanlaville 3 collaborations

Shamika Ketkar 3 collaborations

Hongzheng Dai 3 collaborations

Hsiao-Tuan Chao 3 collaborations

John J Millichap 3 collaborations

Egidio Spinelli 3 collaborations

Annapurna Poduri 3 collaborations

Emily Bryant 3 collaborations

Irena Bellinski 2 collaborations

Lisa Kinsley 2 collaborations

Scott Demarest 2 collaborations

Alina I Esterhuizen 2 collaborations

Carina G Biar 2 collaborations

Patricia N Schneider 2 collaborations

Amy McTague 2 collaborations

Carmen Barba 2 collaborations

Renzo Guerrini 2 collaborations

Christy W LaFlamme 2 collaborations

Cassandra Rastin 2 collaborations

Soham Sengupta 2 collaborations

Helen E Pennington 2 collaborations

Sophie J Russ-Hall 2 collaborations

Emily S Bonkowski 2 collaborations

Edith P Almanza Fuerte 2 collaborations

Joy Goffena 2 collaborations

Sophia B Gibson 2 collaborations

Talia J Allan 2 collaborations

Denis M Nyaga 2 collaborations

Nico Lieffering 2 collaborations

Malavika Hebbar 2 collaborations

Emily V Walker 2 collaborations

Daniel Darnell 2 collaborations

Scott R Olsen 2 collaborations

Pandurang Kolekar 2 collaborations

Wojciech Rosikiewicz 2 collaborations

Haley McConkey 2 collaborations

Jennifer Kerkhof 2 collaborations

Michael A Levy 2 collaborations

Raissa Relator 2 collaborations

Dorit Lev 2 collaborations

Tally Lerman-Sagie 2 collaborations

Kristen L Park 2 collaborations

Marielle Alders 2 collaborations

Gerarda Cappuccio 2 collaborations

Leigh Demain 2 collaborations

David Genevieve 2 collaborations

Tony Roscioli 2 collaborations

Matthew L Tedder 2 collaborations

Geoffrey Neale 2 collaborations

Zhaoming Wang 2 collaborations

Samuel F Berkovic 2 collaborations

Danny E Miller 2 collaborations

Bekim Sadikovic 2 collaborations

Matthew Zemel 2 collaborations

Timothy Feyma 2 collaborations

Kathleen M Gorman 2 collaborations

Mary D King 2 collaborations

Sian Ellard 2 collaborations

Richard Person 2 collaborations

Kirsty McWalter 2 collaborations

Elizabeth E Gerard 2 collaborations

Jonathan Gunti 2 collaborations

Aishwarya Ramamurthy 2 collaborations

Carlos A Bacino 2 collaborations

Jessica Giannelli 2 collaborations

Marcello Scala 2 collaborations

Andrea Accogli 2 collaborations

Pasquale Striano 2 collaborations

Valeria Capra 2 collaborations

Monika Weisz-Hubshman 2 collaborations

Albert J Becker 2 collaborations

Alica M Goldman 2 collaborations

Katja Kobow 2 collaborations

Iscia Lopes-Cendes 2 collaborations

Christopher A Reid 2 collaborations

Erwin A van Vliet 2 collaborations

David C Henshall 2 collaborations

Manju A Kurian 2 collaborations

Sander Pajusalu 2 collaborations

Katrin Õunap 2 collaborations

Alexandra M Huffman 1 collaboration

Elizabeth Bachman 1 collaboration

Elizabeth Gerard 1 collaboration

Jennifer A Kearney 1 collaboration

Chris G Dulla 1 collaboration

Dan H Lowenstein 1 collaboration

Amy R Brooks-Kayal 1 collaboration

Tyler Matheny 1 collaboration

Jay Hesselberth 1 collaboration

Amy G Jones 1 collaboration

Matilde Aquilino 1 collaboration

Rory J Tinker 1 collaboration

Laura Duncan 1 collaboration

Zandra Jenkins 1 collaboration

Stephanie J DeWard 1 collaboration

Dorothy K Grange 1 collaboration

M J Hajianpour 1 collaboration

Benjamin J Halliday 1 collaboration

Muriel Holder-Espinasse 1 collaboration

Judit Horvath 1 collaboration

Silvia Maitz 1 collaboration

Vincenzo Nigro 1 collaboration

Manuela Morleo 1 collaboration

Victoria Paul 1 collaboration

Careni Spencer 1 collaboration

Tilman Polster 1 collaboration

Alice Spano 1 collaboration

Inés Gómez-Lozano 1 collaboration

Abhishek Kumar 1 collaboration

Gemma Poke 1 collaboration

John A Phillips 1 collaboration

Hunter R Underhill 1 collaboration

Gregory Gimenez 1 collaboration

Takashi Namba 1 collaboration

Stephen P Robertson 1 collaboration

Cole Pfeifer 1 collaboration

Kenneth A Myers 1 collaboration

Carla Marini 1 collaboration

Julie Panetta 1 collaboration

Chloe Stutterd 1 collaboration

Thorsten Stanley 1 collaboration

Samantha Marin 1 collaboration

John Nguyen 1 collaboration

Anna Rosati 1 collaboration

Richard H Scott 1 collaboration

Jeff Calhoun 1 collaboration

Krista Eschbach 1 collaboration

Hung-Chun Yu 1 collaboration

David Mirsky 1 collaboration

Katie Angione 1 collaboration

Tamim H Shaikh 1 collaboration

Tim A Benke 1 collaboration

Miranda Galey 1 collaboration

Nahdir Djekidel 1 collaboration

Monika Weisz Hubshman 1 collaboration

Kim Carlyle Worley 1 collaboration

Lisa M Wren 1 collaboration

Juan Jiménez-Jáimez 1 collaboration

Saleh Al-Ghamdi 1 collaboration

Jumana Y Al-Aama 1 collaboration

Amnah Bdeir 1 collaboration

Zuhair N Al-Hassnan 1 collaboration

Jyn L Kuan 1 collaboration

Roger Y Foo 1 collaboration

Franck Potet 1 collaboration

Christopher N Johnson 1 collaboration

Juan-Pablo Kaski 1 collaboration

Lia Crotti 1 collaboration

Francesca Perin 1 collaboration

Lorenzo Monserrat 1 collaboration

Paul W Burridge 1 collaboration

Peter J Schwartz 1 collaboration

Walter J Chazin 1 collaboration

Zahurul A Bhuiyan 1 collaboration

Alfred L George 1 collaboration

Guillem de Valles-Ibáñez 1 collaboration

Michael S Hildebrand 1 collaboration

Allyn McConkie-Rosell 1 collaboration

Marie McDonald 1 collaboration

Halie May 1 collaboration

Tristan Sands 1 collaboration

Vimla Aggarwal 1 collaboration

Christopher Elder 1 collaboration

Allan Bayat 1 collaboration

Rikke S Møller 1 collaboration

Christina D Fenger 1 collaboration

Jens Erik Klint Nielsen 1 collaboration

Anita N Datta 1 collaboration

Natalia D Linhares 1 collaboration

Barbara K Burton 1 collaboration

Andrea Paras 1 collaboration

Julia Rankin 1 collaboration

Anju Shukla 1 collaboration

Purvi Majethia 1 collaboration

Rory J Olson 1 collaboration

Karthik Muthusamy 1 collaboration

Lisa A Schimmenti 1 collaboration

Keith Starnes 1 collaboration

Lucie Sedláčková 1 collaboration

Katalin Štěrbová 1 collaboration

Markéta Vlčková 1 collaboration

Petra Laššuthová 1 collaboration

Alena Jahodová 1 collaboration

Brenda E Porter 1 collaboration

Nathalie Couque 1 collaboration

Estelle Colin 1 collaboration

Clément Prouteau 1 collaboration

Corinne Collet 1 collaboration

Thomas Smol 1 collaboration

Roseline Caumes 1 collaboration

Fleur Vansenne 1 collaboration

Francesca Bisulli 1 collaboration

Laura Licchetta 1 collaboration

Erin Torti 1 collaboration

Richard Webster 1 collaboration

Pierre Szepetowski 1 collaboration

Nicki Tiffin 1 collaboration

Gillian Riordan 1 collaboration

Marie Wessels 1 collaboration

Richard J Burman 1 collaboration

Ezra E Amiri 1 collaboration

Michael J Bamshad 1 collaboration

Raj Ramesar 1 collaboration

Jo M Wilmshurst 1 collaboration

Vijay S Ganesh 1 collaboration

Kevin Riquin 1 collaboration

Kay-Marie Lamar 1 collaboration

Pauline Monin 1 collaboration

Melanie O'Leary 1 collaboration

Julia K Goodrich 1 collaboration

Kiran V Garimella 1 collaboration

Eleina England 1 collaboration

Esther Yoon 1 collaboration

Ben Weisburd 1 collaboration

Francois Aguet 1 collaboration

David R Murdock 1 collaboration

Lisa T Emrick 1 collaboration

Yael Sarusi 1 collaboration

Saima Kayani 1 collaboration

Brian Broadbent 1 collaboration

Bertrand Isidor 1 collaboration

Alisée Pengam 1 collaboration

Benjamin Cogné 1 collaboration

Daniel G MacArthur 1 collaboration

Igor Ulitsky 1 collaboration

Anne O'Donnell-Luria 1 collaboration

Emily M Bryant 1 collaboration

Christopher Miller 1 collaboration

Jacqueline Wolak 1 collaboration

Victoria Sanders 1 collaboration

Joel Charrow 1 collaboration

Katherine L Helbig 1 collaboration

Candace T Myers 1 collaboration

Robert Huether 1 collaboration

Sara Lewis 1 collaboration

Tyler N Kruer 1 collaboration

Brandon S Guida 1 collaboration

Somayeh Bakhtiari 1 collaboration

Joy Sebe 1 collaboration

Sha Tang 1 collaboration

Heather Stickney 1 collaboration

Sehribani Ulusoy Oktay 1 collaboration

Ashwin A Bhandiwad 1 collaboration

Keri Ramsey 1 collaboration

Vinodh Narayanan 1 collaboration

Luis O Rohena 1 collaboration

Mariasavina Severino 1 collaboration

Georgina Hollingsworth 1 collaboration

Deepak Gill 1 collaboration

Christel Depienne 1 collaboration

Caroline Nava 1 collaboration

Paul A Caruso 1 collaboration

Angela E Lin 1 collaboration

Floor E Jansen 1 collaboration

Bobby Koeleman 1 collaboration

Eva Brilstra 1 collaboration

Marjolein H Willemsen 1 collaboration

Tjitske Kleefstra 1 collaboration

Joaquim Sa 1 collaboration

Marie-Laure Mathieu 1 collaboration

Laurine Perrin 1 collaboration

Giorgio Casari 1 collaboration

David Raible 1 collaboration

Evelyn Sattlegger 1 collaboration

Sergio Padilla-Lopez 1 collaboration

Michael C Kruer 1 collaboration

Maimuna S Paul 1 collaboration

Sydney L Michener 1 collaboration

Hongling Pan 1 collaboration

Hiuling Chan 1 collaboration

Jessica M Pfliger 1 collaboration

Vanesa C Lerma 1 collaboration

Alyssa Tran 1 collaboration

Megan A Longley 1 collaboration

Richard A Lewis 1 collaboration

Mir Reza Bekheirnia 1 collaboration

Nasim Bekheirnia 1 collaboration

Lauren Massingham 1 collaboration

Michael Zech 1 collaboration

Matias Wagner 1 collaboration

Hartmut Engels 1 collaboration

Kirsten Cremer 1 collaboration

Elisabeth Mangold 1 collaboration

Sophia Peters 1 collaboration

Jessica Trautmann 1 collaboration

Jessica L Mester 1 collaboration

Maria J Guillen Sacoto 1 collaboration

Pamela P McDonnell 1 collaboration

Stacey R Cohen 1 collaboration

Laina Lusk 1 collaboration

Ana S A Cohen 1 collaboration

Jean-Baptiste Le Pichon 1 collaboration

Tomi Pastinen 1 collaboration

Dihong Zhou 1 collaboration

Kendra Engleman 1 collaboration

Caroline Racine 1 collaboration

Laurence Faivre 1 collaboration

Sébastien Moutton 1 collaboration

Anne-Sophie Denommé-Pichon 1 collaboration

Hyun Yong Koh 1 collaboration

Jeffrey Bolton 1 collaboration

Cordula Knopp 1 collaboration

Dong Sun Julia Suh 1 collaboration

Andrea Maier 1 collaboration

Mehran Beiraghi Toosi 1 collaboration

Ehsan Ghayoor Karimiani 1 collaboration

Reza Maroofian 1 collaboration

Gerald Bradley Schaefer 1 collaboration

Vijayalakshmi Ramakumaran 1 collaboration

Pradeep Vasudevan 1 collaboration

Chitra Prasad 1 collaboration

Matthew Osmond 1 collaboration

Sarah Schuhmann 1 collaboration

Georgia Vasileiou 1 collaboration

Sophie Russ-Hall 1 collaboration

Heather Mefford 1 collaboration

Brendan H Lee 1 collaboration

Andrew M Tidball 1 collaboration

Jinghui Luo 1 collaboration

J Clayton Walker 1 collaboration

Taylor N Takla 1 collaboration

Jack M Parent 1 collaboration

Karen M J Van Loo 1 collaboration

Karen Conboy 1 collaboration

Colleen Gleason 1 collaboration

Najma Mohamed 1 collaboration

Kristy Zeng 1 collaboration

Meredith Hiller 1 collaboration

Divakar S Mithal 1 collaboration

Mona Grimmel 1 collaboration

Eva M C Schwaibold 1 collaboration

Constance Smith-Hicks 1 collaboration

Anna Chassevent 1 collaboration

Annalaura Torella 1 collaboration

Lynne M Bird 1 collaboration

Issam Ben-Sahra 1 collaboration

Nina Ekhilevich 1 collaboration

Tova Hershkovitz 1 collaboration

Karin Weiss 1 collaboration

John Millichap 1 collaboration

Jung Hwa Hong 1 collaboration

Eleanor Goes 1 collaboration

Masha Bandouil 1 collaboration

Fairlie Reese 1 collaboration

Krysta Engel 1 collaboration

Sarah Weckhuysen 1 collaboration

Shinichi Hirose 1 collaboration

Hela Mrabet Khiari 1 collaboration

Michael R Johnson 1 collaboration

Esther Meyer 1 collaboration

Detelina Grozeva 1 collaboration

Alba Sanchis-Juan 1 collaboration

Keren J Carss 1 collaboration

Adi Reich 1 collaboration

Ronit M Pressler 1 collaboration

Michael A Simpson 1 collaboration

Geoff D Debelle 1 collaboration

Evangeline Wassmer 1 collaboration

Jenny Morton 1 collaboration

Diana Sieciechowicz 1 collaboration

Eric Jan-Kamsteeg 1 collaboration

Alex R Paciorkowski 1 collaboration

J Helen Cross 1 collaboration

Tobias B Haack 1 collaboration

Gary McCullagh 1 collaboration

Jill Clayton-Smith 1 collaboration

Eamonn R Maher 1 collaboration

F Lucy Raymond 1 collaboration

Jacob R Stolz 1 collaboration

Kendall M Foote 1 collaboration

Hermine E Veenstra-Knol 1 collaboration

Rolph Pfundt 1 collaboration

Sanne W Ten Broeke 1 collaboration

Nicole de Leeuw 1 collaboration

Laura Roht 1 collaboration

Reelika Part 1 collaboration

Ionella Rebane 1 collaboration

Zornitza Stark 1 collaboration

Edwin P Kirk 1 collaboration

John A Lawson 1 collaboration

Sebastian Lunke 1 collaboration

John Christodoulou 1 collaboration

Raymond J Louie 1 collaboration

R Curtis Rogers 1 collaboration

Jessica M Davis 1 collaboration

A Micheil Innes 1 collaboration

Xing-Chang Wei 1 collaboration

Boris Keren 1 collaboration

Cyril Mignot 1 collaboration

Robert Roger Lebel 1 collaboration

Steven M Sperber 1 collaboration

Ai Sakonju 1 collaboration

Nienke Dosa 1 collaboration

Daniela Q C M Barge-Schaapveld 1 collaboration

Cacha M P C D Peeters-Scholte 1 collaboration

Claudia A L Ruivenkamp 1 collaboration

Bregje W van Bon 1 collaboration

Joanna Kennedy 1 collaboration

Karen J Low 1 collaboration

Lewis Pang 1 collaboration

Joseph J Junewick 1 collaboration

Paul R Mark 1 collaboration

Geoffrey T Swanson 1 collaboration

Niccolò E Mencacci 1 collaboration

Marisa M Brockmann 1 collaboration

Jinye Dai 1 collaboration

Burcu Atasu 1 collaboration

Joaquin Campos 1 collaboration

Gabriela Pino 1 collaboration

Paulina Gonzalez-Latapi 1 collaboration

Christopher Patzke 1 collaboration

Michael Schwake 1 collaboration

Arianna Tucci 1 collaboration

Alan Pittman 1 collaboration

Javier Simon-Sanchez 1 collaboration

Bettina Balint 1 collaboration

Sarah Wiethoff 1 collaboration

Thomas T Warner 1 collaboration

Apostolos Papandreou 1 collaboration

Audrey Soo 1 collaboration

Reet Rein 1 collaboration

Liis Kadastik-Eerme 1 collaboration

Sanna Puusepp 1 collaboration

Karit Reinson 1 collaboration

Tiiu Tomberg 1 collaboration

Hasmet Hanagasi 1 collaboration

Thomas Gasser 1 collaboration

Kailash P Bhatia 1 collaboration

Ebba Lohmann 1 collaboration

Christian Rosenmund 1 collaboration

Thomas C Südhof 1 collaboration

Nicholas W Wood 1 collaboration

Dimitri Krainc 1 collaboration

Claudio Acuna 1 collaboration

Sandra Jansen 1 collaboration

Amy Lacroix 1 collaboration

Michele Mehaffey 1 collaboration

Petra De Vries 1 collaboration

Han G Brunner 1 collaboration

Bert B A De Vries 1 collaboration

Lisenka E L M Vissers 1 collaboration

Kyle R Christensen 1 collaboration

Amy Schneider 1 collaboration

Jennifer Rakotomamonjy 1 collaboration

Alison M Muir 1 collaboration

Rebecca O Littlejohn 1 collaboration

Elizabeth R Roeder 1 collaboration

Berkley Schmidt 1 collaboration

William G Wilson 1 collaboration

Elysa J Marco 1 collaboration

Kazuhiro Iwama 1 collaboration

Satoko Kumada 1 collaboration

Tiziana Pisano 1 collaboration

Annalisa Vetro 1 collaboration

Eva H Brilstra 1 collaboration

Richard H van Jaarsveld 1 collaboration

Naomichi Matsumoto 1 collaboration

Hadassa Goldberg-Stern 1 collaboration

Patrick W Carney 1 collaboration

P Ian Andrews 1 collaboration

Christelle M El Achkar 1 collaboration

Sam Berkovic 1 collaboration

Lance H Rodan 1 collaboration

Simone Mandelstam 1 collaboration

Linda Laux 1 collaboration

Alicia Guemez-Gamboa 1 collaboration

Angus C Nairn 1 collaboration

Honghong Zhang 1 collaboration

Cristina Alarcon 1 collaboration

Larisa H Cavallari 1 collaboration

Edith Nutescu 1 collaboration

Minoli A Perera 1 collaboration

Wenndy Hernandez 1 collaboration

Miranda Perez-Galey Zalusky 1 collaboration

Mohamed Nadhir Djekidel 1 collaboration

Sachin Gupta 1 collaboration

Elizabeth A Jones 1 collaboration

Kim C Worley 1 collaboration

Affiliations

Publications (31)

CACNA1H variants are not a cause of monogenic epilepsy.

The path from scientific discovery to cures for epilepsy.

Haploinsufficiency, Dominant Negative, and Gain-of-Function Mechanisms in Epilepsy: Matching Therapeutic Approach to the Pathophysiology.

Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.

Multimodal framework to resolve variants of uncertain significance in

A 2020 View on the Genetics of Developmental and Epileptic Encephalopathies.

Targeting Poison Exons to Treat Developmental and Epileptic Encephalopathy.

Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder.

Whole-exome sequencing and adrenocorticotropic hormone therapy in individuals with infantile spasms.

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.

Genetic Mosaicism in Calmodulinopathy.

Poison exons in neurodevelopment and disease.

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of

Precision medicine for developmental and epileptic encephalopathies in Africa-strategies for a resource-limited setting.

Novel syndromic neurodevelopmental disorder caused by de novo deletion of

Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation.

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Genome-wide CRISPRi Screen in Human iNeurons to Identify Novel Focal Cortical Dysplasia Genes.

Epigenetic genes and epilepsy - emerging mechanisms and clinical applications.

mTORC1 functional assay reveals SZT2 loss-of-function variants and a founder in-frame deletion.

Long-read sequencing and profiling of RNA-binding proteins reveals the pathogenic mechanism of aberrant splicing of an

Epigenetics explained: a topic "primer" for the epilepsy community by the ILAE Genetics/Epigenetics Task Force.

Calcium Channel Dysfunction in Epilepsy: Gain of CACNA1E.

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.

Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.

Genetic convergence of developmental and epileptic encephalopathies and intellectual disability.

Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy.

Genomewide Association Study Identifies Copy Number Variants Associated With Warfarin Dose Response and Risk of Venous Thromboembolism in African Americans.

Diagnostic utility of DNA methylation analysis in genetically unsolved pediatric epilepsies and CHD2 episignature refinement.

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