Ruxandra Bachmann-Gagescu

Publications (24)

Loss-of-function variants in

medRxiv : the preprint server for health sciences

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

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

Réseau de co-auteurs

Anita Rauch 7 collaborations
Pascal Joset 6 collaborations
Markus Masek 5 collaborations
Frédéric Ebstein 3 collaborations
Tuula Rinne 3 collaborations
Isabelle Thiffault 3 collaborations
Marie Vincent 3 collaborations
Cyril Mignot 3 collaborations
Elke Krüger 3 collaborations
Marco Tartaglia 3 collaborations
Heinrich Sticht 3 collaborations
Claudia Hofmann 3 collaborations
Matthias Gesemann 3 collaborations
None None 3 collaborations
John A Sayer 3 collaborations
Patrick R Blackburn 2 collaborations
Tzung-Chien Hsieh 2 collaborations
Marialetizia Motta 2 collaborations
Johanna C Herkert 2 collaborations
Michele Rapp 2 collaborations
Mariel Alders 2 collaborations
Saskia Maas 2 collaborations
Bénédicte Gerard 2 collaborations
Thomas Smol 2 collaborations
Benjamin Cogné 2 collaborations
Bertrand Isidor 2 collaborations
Andrea Ciolfi 2 collaborations
Thomas Husson 2 collaborations
Anne-Marie Guerrot 2 collaborations
Carlos Bacino 2 collaborations
Colleen Macmurdo 2 collaborations
Stephanie S Thompson 2 collaborations
Jill A Rosenfeld 2 collaborations
Laurence Faivre 2 collaborations
Frederic Tran Mau-Them 2 collaborations
Wallid Deb 2 collaborations
Virginie Vignard 2 collaborations
Pankaj B Agrawal 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
Marwan Shinawi 2 collaborations
Chloe Mighton 2 collaborations
Charlotte Fung 2 collaborations
Stephanie DiTroia 2 collaborations
Magalie Barth 2 collaborations
Dominique Bonneau 2 collaborations
Ingrid Krapels 2 collaborations
Vyne van der Schoot 2 collaborations
Theresa Brunet 2 collaborations
Cornelia Bußmann 2 collaborations
Thomas Courtin 2 collaborations
Claudia Ravelli 2 collaborations
Boris Keren 2 collaborations
Alban Ziegler 2 collaborations
Linda Hasadsri 2 collaborations
Pavel N Pichurin 2 collaborations
Eric W Klee 2 collaborations
Katheryn Grand 2 collaborations
Pedro A Sanchez-Lara 2 collaborations
Stéphane Bézieau 2 collaborations
Hannah Klinkhammer 2 collaborations
Peter Michael Krawitz 2 collaborations
Evan E Eichler 2 collaborations
Sébastien Küry 2 collaborations
Tianyun Wang 2 collaborations
Jordi Maggi 2 collaborations
Silke Feil 2 collaborations
Christina Gerth-Kahlert 2 collaborations
Samuel Koller 2 collaborations
Wolfgang Berger 2 collaborations
Nikita Vladimirov 2 collaborations
Joana Figueiro-Silva 2 collaborations
Markus Zweier 2 collaborations
Katharina Steindl 2 collaborations
Barbara Plecko 2 collaborations
Reza Asadollahi 2 collaborations
Tamara D S Rusterholz 2 collaborations
Muhammad Ansar 2 collaborations
Stylianos E Antonarakis 2 collaborations
Dennis Kraemer 2 collaborations
Anselm H C Horn 2 collaborations
Susan M Hiatt 2 collaborations
Gregory M Cooper 2 collaborations
Jennifer C Dempsey 2 collaborations
Dan Doherty 2 collaborations
Stephan Cf Neuhauss 2 collaborations
Jingjing Zang 2 collaborations
Stephan C F Neuhauss 2 collaborations
Chantal Morel 1 collaboration
Jordan Lerner- Ellis 1 collaboration
Sander Stegmann 1 collaboration
Jiradet Gloggnitzer 1 collaboration
Kevin Maggi 1 collaboration
Thomas Naert 1 collaboration
Taiyo Yamamoto 1 collaboration
Shuting Han 1 collaboration
Melanie Horn 1 collaboration
Phillip Bethge 1 collaboration
Fabian F Voigt 1 collaboration
Fritjof Helmchen 1 collaboration
Soeren S Lienkamp 1 collaboration
Anaïs Begemann 1 collaboration
Mario A Acuña 1 collaboration
Annette Hackenberg 1 collaboration
Lucia Abela 1 collaboration
Judith Kroell-Seger 1 collaboration
Alessandra Baumer 1 collaboration
Kazuhiro Yamakawa 1 collaboration
Yushi Inoue 1 collaboration
Hanns Ulrich Zeilhofer 1 collaboration
Avishag Mytlis 1 collaboration
Vineet Kumar 1 collaboration
Tao Qiu 1 collaboration
Rachael Deis 1 collaboration
Neta Hart 1 collaboration
Karine Levy 1 collaboration
Amal Shawahny 1 collaboration
Adam Ahmad 1 collaboration
Hagai Eitan 1 collaboration
Farouq Nather 1 collaboration
Shai Adar-Levor 1 collaboration
Ramon Y Birnbaum 1 collaboration
Natalie Elia 1 collaboration
Sudipto Roy 1 collaboration
Yaniv M Elkouby 1 collaboration
Morgane Djebar 1 collaboration
Isabelle Anselme 1 collaboration
Guillaume Pezeron 1 collaboration
Pierre-Luc Bardet 1 collaboration
Alexis Eschstruth 1 collaboration
Diego López-Santos 1 collaboration
Hélène Le Ribeuz 1 collaboration
Arnim Jenett 1 collaboration
Hanane Khoury 1 collaboration
Joelle Veziers 1 collaboration
Caroline Parmentier 1 collaboration
Aurélie Hirschler 1 collaboration
Christine Carapito 1 collaboration
Christine Vesque 1 collaboration
Alexandra R Noble 1 collaboration
Arianna Cuoco 1 collaboration
Hayriye Özkoc 1 collaboration
Nadja R Greter 1 collaboration
Ian G Phelps 1 collaboration
Sepp Kollmorgen 1 collaboration
Esther Stoeckli 1 collaboration
Hayriye Özkoç 1 collaboration
Sohail A Paracha 1 collaboration
Justyna Iwaszkiewicz 1 collaboration
Vincent Zoete 1 collaboration
Emmanuelle Ranza 1 collaboration
Federico A Santoni 1 collaboration
Muhammad T Sarwar 1 collaboration
Jawad Ahmed 1 collaboration
Paranchai Boonsawat 1 collaboration
Beatrice Oneda 1 collaboration
Laura Gogoll 1 collaboration
Silvia Azzarello-Burri 1 collaboration
Frenny Sheth 1 collaboration
Chaitanya Datar 1 collaboration
Ishwar C Verma 1 collaboration
Ratna Dua Puri 1 collaboration
Marcella Zollino 1 collaboration
Dunja Niedrist 1 collaboration
Michael Papik 1 collaboration
Rahim Masood 1 collaboration
Sharyn Lincoln 1 collaboration
Lance Rodan 1 collaboration
Sandrine Passemard 1 collaboration
Séverine Drunat 1 collaboration
Alain Verloes 1 collaboration
Robert Steinfeld 1 collaboration
Beatrice Latal 1 collaboration
Oskar Jenni 1 collaboration
Michelle L Thompson 1 collaboration
Jeremy W Prokop 1 collaboration
James M J Lawlor 1 collaboration
David E Gray 1 collaboration
E Martina Bebin 1 collaboration
Marlies Kempers 1 collaboration
Rolph Pfundt 1 collaboration
Bregje W van Bon 1 collaboration
Caroline Nava 1 collaboration
Christel Depienne 1 collaboration
Louisa Kalsner 1 collaboration
Ingrid M Wentzensen 1 collaboration
Kirsty McWalter 1 collaboration
Christina Austin-Tse 1 collaboration
Judith G M Bergboer 1 collaboration
Elisa Molinari 1 collaboration
Yuya Sugano 1 collaboration
Iain A Drummond 1 collaboration
Sara Bulgheroni 1 collaboration
Maida L Chen 1 collaboration
Stefano D'Arrigo 1 collaboration
Ian A Glass 1 collaboration
Theo Heller 1 collaboration
Elise Héon 1 collaboration
Friedhelm Hildebrandt 1 collaboration
Nirmal Joshi 1 collaboration
Dana Knutzen 1 collaboration
Hester Y Kroes 1 collaboration
Stephen H Mack 1 collaboration
Sara Nuovo 1 collaboration
Melissa A Parisi 1 collaboration
Joseph Snow 1 collaboration
Angela C Summers 1 collaboration
Jordan M Symons 1 collaboration
Wadih M Zein 1 collaboration
Eugen Boltshauser 1 collaboration
Meral Gunay-Aygun 1 collaboration
Enza Maria Valente 1 collaboration
R Asadollahi 1 collaboration
I Delvendahl 1 collaboration
R Muff 1 collaboration
G Tan 1 collaboration
D G Rodríguez 1 collaboration
S Turan 1 collaboration
M Russo 1 collaboration
B Oneda 1 collaboration
P Joset 1 collaboration
P Boonsawat 1 collaboration
R Masood 1 collaboration
M Mocera 1 collaboration
I Ivanovski 1 collaboration
A Baumer 1 collaboration
R Bachmann-Gagescu 1 collaboration
R Schlapbach 1 collaboration
H Rehrauer 1 collaboration
K Steindl 1 collaboration
A Begemann 1 collaboration
A Reis 1 collaboration
J Winkler 1 collaboration
B Winner 1 collaboration
M Müller 1 collaboration
A Rauch 1 collaboration
Chantal F Morel 1 collaboration
Jordan Lerner-Ellis 1 collaboration
Alexander P A Stegmann 1 collaboration
Giuseppe Zampino 1 collaboration
Saskia B Wortmann 1 collaboration
Johannes A Mayr 1 collaboration
René G Feichtinger 1 collaboration
Brooke L Latour 1 collaboration
Julie C Van De Weghe 1 collaboration
Tamara Ds Rusterholz 1 collaboration
Stef Jf Letteboer 1 collaboration
Arianna Gomez 1 collaboration
Ranad Shaheen 1 collaboration
Arezou Karamzade 1 collaboration
Mostafa Asadollahi 1 collaboration
Miguel Barroso-Gil 1 collaboration
Manali Chitre 1 collaboration
Megan E Grout 1 collaboration
Jeroen van Reeuwijk 1 collaboration
Sylvia Ec van Beersum 1 collaboration
Caitlin V Miller 1 collaboration
Heba Morsy 1 collaboration
Michael J Bamshad 1 collaboration
Deborah A Nickerson 1 collaboration
Karsten Boldt 1 collaboration
Marius Ueffing 1 collaboration
Mohammad Keramatipour 1 collaboration
Fowzan S Alkuraya 1 collaboration
Ronald Roepman 1 collaboration
Christelle Etard 1 collaboration
Andreas J Hülsmeier 1 collaboration
Masanari Takamiya 1 collaboration
Thorsten Hornemann 1 collaboration
Uwe Strähle 1 collaboration
José M Mateos 1 collaboration
Marco Garbelli 1 collaboration
Urs Ziegler 1 collaboration
Slavica Trajkova 1 collaboration
Fatima E Abidi 1 collaboration
Ashlyn Anderson 1 collaboration
Azadeh Azadi 1 collaboration
Andrea Bartuli 1 collaboration
Caroline Benech 1 collaboration
Jennifer L Berkowitz 1 collaboration
Michael J Betti 1 collaboration
Alfredo Brusco 1 collaboration
Ashley Cannon 1 collaboration
Giulia Caron 1 collaboration
Yanmin Chen 1 collaboration
Meagan E Cochran 1 collaboration
Tanner F Coleman 1 collaboration
Molly M Crenshaw 1 collaboration
Laurence Cuisset 1 collaboration
Cynthia J Curry 1 collaboration
Hossein Darvish 1 collaboration
Serwet Demirdas 1 collaboration
Maria Descartes 1 collaboration
Jessica Douglas 1 collaboration
David A Dyment 1 collaboration
Houda Zghal Elloumi 1 collaboration
Giuseppe Ermondi 1 collaboration
Marie Faoucher 1 collaboration
Emily G Farrow 1 collaboration
Stephanie A Felker 1 collaboration
Heather Fisher 1 collaboration
Anna C E Hurst 1 collaboration
Melissa A Kelly 1 collaboration
Stanislav Kmoch 1 collaboration
Benjamin R Leadem 1 collaboration
Michael J Lyons 1 collaboration
Marina Macchiaiolo 1 collaboration
Martin Magner 1 collaboration
Giorgia Mandrile 1 collaboration
Francesca Mattioli 1 collaboration
Megan McEown 1 collaboration
Sarah K Meadows 1 collaboration
Livija Medne 1 collaboration
Naomi J L Meeks 1 collaboration
Sarah Montgomery 1 collaboration
Melanie P Napier 1 collaboration
Marvin Natowicz 1 collaboration
Kimberly M Newberry 1 collaboration
Marcello Niceta 1 collaboration
Lenka Noskova 1 collaboration
Catherine B Nowak 1 collaboration
Amanda G Noyes 1 collaboration
Matthew Osmond 1 collaboration
Eloise J Prijoles 1 collaboration
Jada Pugh 1 collaboration
Verdiana Pullano 1 collaboration
Chloé Quélin 1 collaboration
Simin Rahimi-Aliabadi 1 collaboration
Sylvia Redon 1 collaboration
Alexandre Reymond 1 collaboration
Caitlin R Schwager 1 collaboration
Elizabeth A Sellars 1 collaboration
Angela E Scheuerle 1 collaboration
Cara Skraban 1 collaboration
Elliot Stolerman 1 collaboration
Bonnie R Sullivan 1 collaboration
Kevin Uguen 1 collaboration
Luis A Umaña 1 collaboration
Yolande van Bever 1 collaboration
Quinten Waisfisz 1 collaboration
Camerun Washington 1 collaboration
Lance H Rodan 1 collaboration
Richard M Myers 1 collaboration
Ella Vintschger 1 collaboration