Pascal Joset

Affiliations
  • Institute of Medical Genetics, University of Zürich, 8952 Schlieren, Switzerland.

Publications (41)

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

American journal of human genetics
Avec: Anne H O'Donnell-Luria , Lynn S Pais , Víctor Faundes , Jordan C Wood , Abigail Sveden , Victor Luria , Rami Abou Jamra , Andrea Accogli , Kimberly Amburgey , Britt Marie Anderlid , Silvia Azzarello-Burri , Alice A Basinger , Claudia Bianchini , Lynne M Bird , Rebecca Buchert , Wilfrid Carre , Sophia Ceulemans , Perrine Charles , Helen Cox , Lisa Culliton , Aurora Currò , Auteur inconnu , Florence Demurger , James J Dowling , Benedicte Duban-Bedu , Christèle Dubourg , Saga Elise Eiset , Luis F Escobar , Alessandra Ferrarini , Tobias B Haack , Mona Hashim , Solveig Heide , Katherine L Helbig , Ingo Helbig , Raul Heredia , Delphine Héron , Bertrand Isidor , Amy R Jonasson , Pascal Joset , Boris Keren , Fernando Kok , Hester Y Kroes , Alinoë Lavillaureix , Xin Lu , Saskia M Maas , Gustavo H B Maegawa , Carlo L M Marcelis , Paul R Mark , Marcelo R Masruha , Heather M McLaughlin , Kirsty McWalter , Esther U Melchinger , Saadet Mercimek-Andrews , Caroline Nava , Manuela Pendziwiat , Richard Person , Gian Paolo Ramelli , Luiza L P Ramos , Anita Rauch , Caitlin Reavey , Alessandra Renieri , Angelika Rieß , Amarilis Sanchez-Valle , Shifteh Sattar , Carol Saunders , Niklas Schwarz , Thomas Smol , Myriam Srour , Katharina Steindl , Steffen Syrbe , Jenny C Taylor , Aida Telegrafi , Isabelle Thiffault , Doris A Trauner , Helio van der Linden , Silvana van Koningsbruggen , Laurent Villard , Ida Vogel , Julie Vogt , Yvonne G Weber , Ingrid M Wentzensen , Elysa Widjaja , Jaroslav Zak , Samantha Baxter , Siddharth Banka , Lance H Rodan

Loss-of-function variants in

medRxiv : the preprint server for health sciences

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype.

American journal of human genetics
Avec: Susan M Hiatt , Slavica Trajkova , Matteo Rossi Sebastiano , E Christopher Partridge , Fatima E Abidi , Ashlyn Anderson , Muhammad Ansar , Stylianos E Antonarakis , Azadeh Azadi , Ruxandra Bachmann-Gagescu , Andrea Bartuli , Caroline Benech , Jennifer L Berkowitz , Michael J Betti , Alfredo Brusco , Ashley Cannon , Giulia Caron , Yanmin Chen , Meagan E Cochran , Tanner F Coleman , Molly M Crenshaw , Laurence Cuisset , Cynthia J Curry , Hossein Darvish , Serwet Demirdas , Maria Descartes , Jessica Douglas , David A Dyment , Houda Zghal Elloumi , Giuseppe Ermondi , Marie Faoucher , Emily G Farrow , Stephanie A Felker , Heather Fisher , Anna C E Hurst , Pascal Joset , Melissa A Kelly , Stanislav Kmoch , Benjamin R Leadem , Michael J Lyons , Marina Macchiaiolo , Martin Magner , Giorgia Mandrile , Francesca Mattioli , Megan McEown , Sarah K Meadows , Livija Medne , Naomi J L Meeks , Sarah Montgomery , Melanie P Napier , Marvin Natowicz , Kimberly M Newberry , Marcello Niceta , Lenka Noskova , Catherine B Nowak , Amanda G Noyes , Matthew Osmond , Eloise J Prijoles , Jada Pugh , Verdiana Pullano , Chloé Quélin , Simin Rahimi-Aliabadi , Anita Rauch , Sylvia Redon , Alexandre Reymond , Caitlin R Schwager , Elizabeth A Sellars , Angela E Scheuerle , Elena Shukarova-Angelovska , Cara Skraban , Elliot Stolerman , Bonnie R Sullivan , Marco Tartaglia , Isabelle Thiffault , Kevin Uguen , Luis A Umaña , Yolande van Bever , Saskia N van der Crabben , Marjon A van Slegtenhorst , Quinten Waisfisz , Camerun Washington , Lance H Rodan , Richard M Myers , Gregory M Cooper

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Science advances
Avec: Sarah E Sheppard , Laura Bryant , Rochelle N Wickramasekara , Courtney Vaccaro , Brynn Robertson , Jodi Hallgren , Jason Hulen , Cynthia J Watson , Victor 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 March , Abdias Diaz-Rosado , Isabella Peixoto de Barcelos , Zhao Xiang Choa , Chin Yan Lim , Christèle Dubourg , Hubert Journel , Florence Demurger , Maureen Mulhern , Cigdem Akman , Natalie Lippa , Marisa Andrews , Dustin Baldridge , John Constantino , Arie van Haeringen , Irina Snoeck-Streef , Penny Chow , Anne Hing , John M Graham , Margaret Au , Laurence Faivre , Wei Shen , Rong Mao , Janice Palumbos , David Viskochil , William Gahl , Cynthia Tifft , Ellen Macnamara , Natalie Hauser , Rebecca Miller , Jessica Maffeo , Alexandra Afenjar , Diane Doummar , Boris Keren , Pamela Arn , Sarah Macklin-Mantia , 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 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 , Sébastien Moutton , Anna M 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 J Bhoj , Holly A F Stessman

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Biological psychiatry
Avec: Brett V Johnson , Raman Kumar , Sabrina Oishi , Suzy Alexander , Maria Kasherman , Michelle Sanchez Vega , Atma Ivancevic , Alison Gardner , Deepti Domingo , Mark Corbett , Euan Parnell , Sehyoun Yoon , Tracey Oh , Matthew Lines , Henrietta Lefroy , Usha Kini , Margot Van Allen , Sabine Grønborg , Sandra Mercier , Sébastien Küry , Stéphane Bézieau , Laurent Pasquier , Martine Raynaud , Alexandra Afenjar , Thierry Billette de Villemeur , Boris Keren , Julie Désir , Lionel Van Maldergem , Martina Marangoni , Nicola Dikow , David A Koolen , Peter M VanHasselt , Marjan Weiss , Petra Zwijnenburg , Joaquim Sa , Claudia Falcao Reis , Carlos López-Otín , Olaya Santiago-Fernández , Alberto Fernández-Jaén , Anita Rauch , Katharina Steindl , Pascal Joset , Amy Goldstein , Suneeta Madan-Khetarpal , Elena Infante , Elaine Zackai , Carey Mcdougall , Vinodh Narayanan , Keri Ramsey , Saadet Mercimek-Andrews , Loren Pena , Vandana Shashi , Auteur inconnu , Kelly Schoch , Jennifer A Sullivan , Filippo Pinto E Vairo , Pavel N Pichurin , Sarah A Ewing , Sarah S Barnett , Eric W Klee , M Scott Perry , Mary Kay Koenig , Catherine E Keegan , Jane L Schuette , Stephanie Asher , Yezmin Perilla-Young , Laurie D Smith , Jill A Rosenfeld , Elizabeth Bhoj , Paige Kaplan , Dong Li , Renske Oegema , Ellen van Binsbergen , Bert van der Zwaag , Marie Falkenberg Smeland , Ioana Cutcutache , Matthew Page , Martin Armstrong , Angela E Lin , Marcie A Steeves , Nicolette den Hollander , Mariëtte J V Hoffer , Margot R F Reijnders , Serwet Demirdas , Daniel C Koboldt , Dennis Bartholomew , Theresa Mihalic Mosher , Scott E Hickey , Christine Shieh , Pedro A Sanchez-Lara , John M Graham , Kamer Tezcan , G B Schaefer , Noelle R Danylchuk , Alexander Asamoah , Kelly E Jackson , Naomi Yachelevich , Margaret Au , Luis A Pérez-Jurado , Tjitske Kleefstra , Peter Penzes , Stephen A Wood , Thomas Burne , Tyler Mark Pierson , Michael Piper , Jozef Gécz , Lachlan A Jolly

Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

Annals of neurology
Avec: Patrick R Blackburn , Frédéric Ebstein , Tzung-Chien Hsieh , Marialetizia Motta , Francesca Clementina Radio , Johanna C Herkert , Tuula Rinne , Isabelle Thiffault , Michele Rapp , Mariel Alders , Saskia Maas , Bénédicte Gerard , Thomas Smol , Catherine Vincent-Delorme , Benjamin Cogné , Bertrand Isidor , Marie Vincent , Ruxandra Bachmann-Gagescu , Anita Rauch , Pascal Joset , Giovanni Battista Ferrero , Andrea Ciolfi , Thomas Husson , Anne-Marie Guerrot , Carlos Bacino , Colleen Macmurdo , Stephanie S Thompson , Jill A Rosenfeld , Laurence Faivre , Frederic Tran Mau-Them , Wallid Deb , Virginie Vignard , Pankaj B Agrawal , Jill A Madden , Alice Goldenberg , François Lecoquierre , Michael Zech , Holger Prokisch , Ján Necpál , Robert Jech , Juliane Winkelmann , Monika Turčanová Koprušáková , Vassiliki Konstantopoulou , John R Younce , Marwan Shinawi , Chloe Mighton , Charlotte Fung , Chantal F Morel , Jordan Lerner-Ellis , Stephanie DiTroia , Magalie Barth , Dominique Bonneau , Ingrid Krapels , Alexander P A Stegmann , Vyne van der Schoot , Theresa Brunet , Cornelia Bußmann , Cyril Mignot , Giuseppe Zampino , Saskia B Wortmann , Johannes A Mayr , René G Feichtinger , Thomas Courtin , Claudia Ravelli , Boris Keren , Alban Ziegler , Linda Hasadsri , Pavel N Pichurin , Eric W Klee , Katheryn Grand , Pedro A Sanchez-Lara , Elke Krüger , Stéphane Bézieau , Hannah Klinkhammer , Peter Michael Krawitz , Evan E Eichler , Marco Tartaglia , Sébastien Küry , Tianyun Wang

Réseau de co-auteurs

Anita Rauch 32 collaborations
Katharina Steindl 28 collaborations
Markus Zweier 12 collaborations
Boris Keren 9 collaborations
Heinrich Sticht 8 collaborations
None None 7 collaborations
Beatrice Oneda 7 collaborations
Silvia Azzarello-Burri 6 collaborations
Isabelle Thiffault 6 collaborations
Cyril Mignot 6 collaborations
Kirsty McWalter 5 collaborations
Thomas Smol 5 collaborations
Michael Papik 5 collaborations
Eric W Klee 5 collaborations
Dennis Kraemer 5 collaborations
Laurence Faivre 5 collaborations
Dong Li 5 collaborations
Anselm H C Horn 5 collaborations
Bertrand Isidor 4 collaborations
Caroline Nava 4 collaborations
Anaïs Begemann 4 collaborations
Laura Gogoll 4 collaborations
Alessandra Baumer 4 collaborations
Reza Asadollahi 4 collaborations
Barbara Plecko 4 collaborations
Angela Bahr 4 collaborations
Tjitske Kleefstra 4 collaborations
Marco Tartaglia 4 collaborations
Jill A Rosenfeld 4 collaborations
Paranchai Boonsawat 4 collaborations
Rami Abou Jamra 3 collaborations
Florence Demurger 3 collaborations
Richard Person 3 collaborations
Siddharth Banka 3 collaborations
Lucia Abela 3 collaborations
Pankaj B Agrawal 3 collaborations
Rolph Pfundt 3 collaborations
Serwet Demirdas 3 collaborations
Samuel Koller 3 collaborations
Wolfgang Berger 3 collaborations
Tuula Rinne 3 collaborations
Benjamin Cogné 3 collaborations
Wallid Deb 3 collaborations
Marwan Shinawi 3 collaborations
Dominique Bonneau 3 collaborations
Claudia Ravelli 3 collaborations
Alban Ziegler 3 collaborations
Linda Hasadsri 3 collaborations
Pavel N Pichurin 3 collaborations
Katheryn Grand 3 collaborations
Pedro A Sanchez-Lara 3 collaborations
Stéphane Bézieau 3 collaborations
Sébastien Küry 3 collaborations
Raimund Kottke 3 collaborations
Vandana Shashi 3 collaborations
Antonio Vitobello 3 collaborations
Michael J Lyons 3 collaborations
Elaine Zackai 3 collaborations
Sarah E Sheppard 3 collaborations
Katrin Õunap 3 collaborations
Sébastien Moutton 3 collaborations
Gregory M Cooper 3 collaborations
Dunja Niedrist 3 collaborations
Renzo Guerrini 3 collaborations
Christina Gerth-Kahlert 3 collaborations
Margaret Au 3 collaborations
Keri Ramsey 3 collaborations
Ivan Ivanovski 3 collaborations
Andrea Accogli 2 collaborations
Lynne M Bird 2 collaborations
Rebecca Buchert 2 collaborations
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Solveig Heide 2 collaborations
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Ingo Helbig 2 collaborations
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Lance H Rodan 2 collaborations
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Rosa Baldinger 2 collaborations
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Dihong Zhou 2 collaborations
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Korbinian M Riedhammer 2 collaborations
Martin R Higgs 2 collaborations
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Bregje W van Bon 2 collaborations
Marcello Niceta 2 collaborations
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Christiane Zweier 2 collaborations
Patrick R Blackburn 2 collaborations
Frédéric Ebstein 2 collaborations
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Marie Vincent 2 collaborations
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Thomas Husson 2 collaborations
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Carlos Bacino 2 collaborations
Colleen Macmurdo 2 collaborations
Stephanie S Thompson 2 collaborations
Frederic Tran Mau-Them 2 collaborations
Virginie Vignard 2 collaborations
Jill A Madden 2 collaborations
Alice Goldenberg 2 collaborations
François Lecoquierre 2 collaborations
Michael Zech 2 collaborations
Holger Prokisch 2 collaborations
Ján Necpál 2 collaborations
Robert Jech 2 collaborations
Juliane Winkelmann 2 collaborations
John R Younce 2 collaborations
Chloe Mighton 2 collaborations
Charlotte Fung 2 collaborations
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Magalie Barth 2 collaborations
Ingrid Krapels 2 collaborations
Vyne van der Schoot 2 collaborations
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Cornelia Bußmann 2 collaborations
Thomas Courtin 2 collaborations
Elke Krüger 2 collaborations
Hannah Klinkhammer 2 collaborations
Peter Michael Krawitz 2 collaborations
Evan E Eichler 2 collaborations
Tianyun Wang 2 collaborations
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Ilaria Parenti 2 collaborations
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Christel Depienne 2 collaborations
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Alexandra Afenjar 2 collaborations
Yvette van Ierland 2 collaborations
Sarah Grotto 2 collaborations
Pietro Sirleto 2 collaborations
Tilo Burkhardt 2 collaborations
Suneeta Madan-Khetarpal 2 collaborations
Vinodh Narayanan 2 collaborations
Jennifer A Sullivan 2 collaborations
Ellen van Binsbergen 2 collaborations
Scott E Hickey 2 collaborations
Paolo Zanoni 2 collaborations
Isabelle Maystadt 2 collaborations
Kristin G Monaghan 2 collaborations
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Pauline E Schneeberger 1 collaboration
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