Maria Demos

Michelle Demos 8 collaborations

Ilaria Guella 4 collaborations

Lian Xu 3 collaborations

Guang Yang 3 collaborations

Xia Liu 3 collaborations

Amanda Kofides 3 collaborations

Nicholas Tsakmaklis 3 collaborations

Manit Munshi 3 collaborations

Kirsten Meid 3 collaborations

Christopher J Patterson 3 collaborations

Andrew R Branagan 3 collaborations

Zachary R Hunter 3 collaborations

Jorge J Castillo 3 collaborations

Steven P Treon 3 collaborations

None None 3 collaborations

Linda Huh 2 collaborations

Joshua N Gustine 2 collaborations

Shayna Sarosiek 2 collaborations

Meriel McEntagart 2 collaborations

Maria Luisa Guerrera 2 collaborations

Stefanie Perrier 2 collaborations

Kether Guerrero 2 collaborations

Luan T Tran 2 collaborations

Bernard Brais 2 collaborations

Michel Sylvain 2 collaborations

Geneviève Bernard 2 collaborations

Mary B Connolly 2 collaborations

Matthew J Farrer 2 collaborations

Mary Connolly 2 collaborations

William T Gibson 2 collaborations

Cyrus Boelman 2 collaborations

Shelin Adam 2 collaborations

Marina Trivisano 1 collaboration

Alessandro Ferretti 1 collaboration

Elizabeth Bebin 1 collaboration

Gaetan Lesca 1 collaboration

Aleksandra Siekierska 1 collaboration

Ryo Takeguchi 1 collaboration

Maryline Carneiro 1 collaboration

Luca De Palma 1 collaboration

Kazuhiro Haginoya 1 collaboration

Ruo Ming Shi 1 collaboration

Atsuo Kikuchi 1 collaboration

Tomoko Kobayashi 1 collaboration

Julien Jung 1 collaboration

Lieven Lagae 1 collaboration

Mathieu Milh 1 collaboration

Marie L Mathieu 1 collaboration

Berge A Minassian 1 collaboration

Antonio Novelli 1 collaboration

Nicola Pietrafusa 1 collaboration

Eri Takeshita 1 collaboration

Marco Tartaglia 1 collaboration

Alessandra Terracciano 1 collaboration

Michelle L Thompson 1 collaboration

Gregory M Cooper 1 collaboration

Federico Vigevano 1 collaboration

Laurent Villard 1 collaboration

Nathalie Villeneuve 1 collaboration

Gunnar M Buyse 1 collaboration

Ingrid E Scheffer 1 collaboration

Nicola Specchio 1 collaboration

Maria L Guerrera 1 collaboration

Gabriel C Dworschak 1 collaboration

Jaya Punetha 1 collaboration

Jeshurun C Kalanithy 1 collaboration

Enrico Mingardo 1 collaboration

Haktan B Erdem 1 collaboration

Zeynep C Akdemir 1 collaboration

Ender Karaca 1 collaboration

Tadahiro Mitani 1 collaboration

Dana Marafi 1 collaboration

Jawid M Fatih 1 collaboration

Shalini N Jhangiani 1 collaboration

Jill V Hunter 1 collaboration

Tikam Chand Dakal 1 collaboration

Bhanupriya Dhabhai 1 collaboration

Omar Dabbagh 1 collaboration

Hessa S Alsaif 1 collaboration

Fowzan S Alkuraya 1 collaboration

Reza Maroofian 1 collaboration

Henry Houlden 1 collaboration

Stephanie Efthymiou 1 collaboration

Natalia Dominik 1 collaboration

Vincenzo Salpietro 1 collaboration

Tipu Sultan 1 collaboration

Shahzad Haider 1 collaboration

Farah Bibi 1 collaboration

Holger Thiele 1 collaboration

Julia Hoefele 1 collaboration

Korbinian M Riedhammer 1 collaboration

Matias Wagner 1 collaboration

Boris Keren 1 collaboration

Julien Buratti 1 collaboration

Perrine Charles 1 collaboration

Caroline Nava 1 collaboration

Delphine Héron 1 collaboration

Solveig Heide 1 collaboration

Elise Valkanas 1 collaboration

Leigh B Waddell 1 collaboration

Kristi J Jones 1 collaboration

Emily C Oates 1 collaboration

Sandra T Cooper 1 collaboration

Daniel MacArthur 1 collaboration

Steffen Syrbe 1 collaboration

Andreas Ziegler 1 collaboration

Konrad Platzer 1 collaboration

Volkan Okur 1 collaboration

Wendy K Chung 1 collaboration

Sarah A O'Shea 1 collaboration

Roy Alcalay 1 collaboration

Stanley Fahn 1 collaboration

Paul R Mark 1 collaboration

Renzo Guerrini 1 collaboration

Annalisa Vetro 1 collaboration

Beth Hudson 1 collaboration

Rhonda E Schnur 1 collaboration

George E Hoganson 1 collaboration

Jennifer E Burton 1 collaboration

Tobias Lindenberg 1 collaboration

Öznur Yilmaz 1 collaboration

Benjamin Odermatt 1 collaboration

Davut Pehlivan 1 collaboration

Jennifer E Posey 1 collaboration

James R Lupski 1 collaboration

Heiko Reutter 1 collaboration

Catherine A Flynn 1 collaboration

Carly Leventoff 1 collaboration

Timothy White 1 collaboration

Mackenzie A Michell-Robinson 1 collaboration

Geneviève Legault 1 collaboration

James Dorman 1 collaboration

Wolfgang Köhler 1 collaboration

Tomi Pastinen 1 collaboration

Isabelle Thiffault 1 collaboration

Yun-Fei Bai 1 collaboration

Michelle Chiu 1 collaboration

Elizabeth S Chan 1 collaboration

Peter Axerio-Cilies 1 collaboration

Jie Lu 1 collaboration

Zhi-Qing David Xu 1 collaboration

Lidong Liu 1 collaboration

Yu Tian Wang 1 collaboration

Alexandra Roston 1 collaboration

Dan Evans 1 collaboration

Harinder Gill 1 collaboration

Margaret McKinnon 1 collaboration

Bertrand Isidor 1 collaboration

Benjamin Cogné 1 collaboration

Jill Mwenifumbo 1 collaboration

Clara van Karnebeek 1 collaboration

Jianghong An 1 collaboration

Steven J M Jones 1 collaboration

Matthew Farrer 1 collaboration

Conrado DeGuzman 1 collaboration

Marna B McKenzie 1 collaboration

Sarah E Buerki 1 collaboration

Daniel M Evans 1 collaboration

Eric B Toyota 1 collaboration

Linda L Huh 1 collaboration

Anita Datta 1 collaboration

Aspasia Michoulas 1 collaboration

Kathryn Selby 1 collaboration

Bruce H Bjornson 1 collaboration

Gabriella Horvath 1 collaboration

Elena Lopez-Rangel 1 collaboration

Clara D M van Karnebeek 1 collaboration

Ramona Salvarinova 1 collaboration

Erin Slade 1 collaboration

Patrice Eydoux 1 collaboration

Margot I Van Allen 1 collaboration

Tanya N Nelson 1 collaboration

Corneliu Bolbocean 1 collaboration

Félixe Pelletier 1 collaboration

Ferdy K Cayami 1 collaboration

Amytice Mirchi 1 collaboration

Stephan Saikali 1 collaboration

Nicole Ulrick 1 collaboration

Emmanouil Rampakakis 1 collaboration

Rosalina M L van Spaendonk 1 collaboration

Sakkubai Naidu 1 collaboration

Daniela Pohl 1 collaboration

Cyril Goizet 1 collaboration

Ingrid Tejera-Martin 1 collaboration

Ana Potic 1 collaboration

Brent L Fogel 1 collaboration

Guillaume Sébire 1 collaboration

Charles Marques Lourenço 1 collaboration

Joshua L Bonkowsky 1 collaboration

Coriene Catsman-Berrevoets 1 collaboration

Pedro S Pinto 1 collaboration

Sandya Tirupathi 1 collaboration

Petter Strømme 1 collaboration

Ton de Grauw 1 collaboration

Dorota Gieruszczak-Bialek 1 collaboration

Ingeborg Krägeloh-Mann 1 collaboration

Hanna Mierzewska 1 collaboration

Heike Philippi 1 collaboration

Julia Rankin 1 collaboration

Tahir Atik 1 collaboration

Brenda Banwell 1 collaboration

William S Benko 1 collaboration

Astrid Blaschek 1 collaboration

Annette Bley 1 collaboration

Eugen Boltshauser 1 collaboration

Drago Bratkovic 1 collaboration

Klara Brozova 1 collaboration

Icíar Cimas 1 collaboration

Christopher Clough 1 collaboration

Bernard Corenblum 1 collaboration

Argirios Dinopoulos 1 collaboration

Gail Dolan 1 collaboration

Flavio Faletra 1 collaboration

Raymond Fernandez 1 collaboration

Janice Fletcher 1 collaboration

Maria Eugenia Garcia Garcia 1 collaboration

Paolo Gasparini 1 collaboration

Janina Gburek-Augustat 1 collaboration

Dolores Gonzalez Moron 1 collaboration

Aline Hamati 1 collaboration

Inga Harting 1 collaboration

Christoph Hertzberg 1 collaboration

Alan Hill 1 collaboration

Grace M Hobson 1 collaboration

A Micheil Innes 1 collaboration

Marcelo Kauffman 1 collaboration

Susan M Kirwin 1 collaboration

Gerhard Kluger 1 collaboration

Petra Kolditz 1 collaboration

Urania Kotzaeridou 1 collaboration

Roberta La Piana 1 collaboration

Eriskay Liston 1 collaboration

William McClintock 1 collaboration

Fiona McKenzie 1 collaboration

Serge Melançon 1 collaboration

Anjum Misbahuddin 1 collaboration

Mohnish Suri 1 collaboration

Fernando I Monton 1 collaboration

Sebastien Moutton 1 collaboration

Raymond P J Murphy 1 collaboration

Miriam Nickel 1 collaboration

Hüseyin Onay 1 collaboration

Simona Orcesi 1 collaboration

Ferda Özkınay 1 collaboration

Steffi Patzer 1 collaboration

Helio Pedro 1 collaboration

Sandra Pekic 1 collaboration

Mercedes Pineda Marfa 1 collaboration

Amy Pizzino 1 collaboration

Barbara Plecko 1 collaboration

Bwee Tien Poll-The 1 collaboration

Vera Popovic 1 collaboration

Dietz Rating 1 collaboration

Marie-France Rioux 1 collaboration

Norberto Rodriguez Espinosa 1 collaboration

Anne Ronan 1 collaboration

John R Ostergaard 1 collaboration

Elsa Rossignol 1 collaboration

Rocio Sanchez-Carpintero 1 collaboration

Anna Schossig 1 collaboration

Nesrin Senbil 1 collaboration

Laura K Sønderberg Roos 1 collaboration

Cathy A Stevens 1 collaboration

Matthis Synofzik 1 collaboration

László Sztriha 1 collaboration

Daniel Tibussek 1 collaboration

Dagmar Timmann 1 collaboration

Davide Tonduti 1 collaboration

Bart P van de Warrenburg 1 collaboration

Maria Vázquez-López 1 collaboration

Sunita Venkateswaran 1 collaboration

Pontus Wasling 1 collaboration

Evangeline Wassmer 1 collaboration

Richard I Webster 1 collaboration

Gert Wiegand 1 collaboration

Grace Yoon 1 collaboration

Joost Rotteveel 1 collaboration

Raphael Schiffmann 1 collaboration

Marjo S van der Knaap 1 collaboration

Adeline Vanderver 1 collaboration

Gabriel Á Martos-Moreno 1 collaboration

Constantin Polychronakos 1 collaboration

Nicole I Wolf 1 collaboration

Patricia Birch 1 collaboration

Rhea Beauchesne 1 collaboration

Nick Bansback 1 collaboration

Jan M Friedman 1 collaboration

Simone Race 1 collaboration

Sylvia Stockler 1 collaboration

Alison M Elliott 1 collaboration

Cristina Jimenez 1 collaboration

Joshua Gustine 1 collaboration

Gloria Chan 1 collaboration

Jiaji G Chen 1 collaboration

Romanos Sklavenitis-Pistofidis 1 collaboration

Mark Bustoros 1 collaboration

Andrew Keezer 1 collaboration

Antonio Sacco 1 collaboration

Aldo Roccaro 1 collaboration

Irene M Ghobrial 1 collaboration

Affiliations

Publications (11)

Defining the phenotype of FHF1 developmental and epileptic encephalopathy.

Bone marrow involvement and subclonal diversity impairs detection of mutated CXCR4 by diagnostic next-generation sequencing in Waldenström macroglobulinaemia.

Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.

Natural history of Waldenström macroglobulinemia following acquired resistance to ibrutinib monotherapy.

Solving inherited white matter disorder etiologies in the neurology clinic: Challenges and lessons learned using next-generation sequencing.

Correction to: Pathophysiology of and therapeutic options for a GABRA1 variant linked to epileptic encephalopathy.

Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

Where there is no genetic counselor: An online decision-aid supports the majority of parents' diagnostic genomic testing choices for their children.

Genomic Landscape of Waldenström Macroglobulinemia and Its Impact on Treatment Strategies.

Réseau de co-auteurs