Catharina M L Volker-Touw

Rolph Pfundt 3 collaborations

Mathilde Nizon 2 collaborations

Jasper J van der Smagt 2 collaborations

Georgia Vasileiou 2 collaborations

Marleen E H Simon 2 collaborations

Han G Brunner 2 collaborations

Peter D Turnpenny 2 collaborations

Meena Balasubramanian 2 collaborations

Koen L I van Gassen 2 collaborations

Bert B A de Vries 2 collaborations

André Reis 2 collaborations

Cyril Mignot 2 collaborations

Boris Keren 2 collaborations

Nicola Brunetti-Pierri 2 collaborations

Bekim Sadikovic 2 collaborations

Silvestre Cuinat 1 collaboration

Bertrand Isidor 1 collaboration

Alexander Stegmann 1 collaboration

Richard H van Jaarsveld 1 collaboration

Koen L van Gassen 1 collaboration

Sjoerd J B Holwerda 1 collaboration

Paulien A Terhal 1 collaboration

Sarah Schuhmann 1 collaboration

Mohamed Khalifa 1 collaboration

Alaa A Nugud 1 collaboration

Hemad Yasaei 1 collaboration

Lilian Bomme Ousager 1 collaboration

Charlotte Brasch-Andersen 1 collaboration

Wallid Deb 1 collaboration

Thomas Besnard 1 collaboration

Karin Huijsdens-van Amsterdam 1 collaboration

Nienke E Verbeek 1 collaboration

Dena Matalon 1 collaboration

Natalie Dykzeul 1 collaboration

Shana White 1 collaboration

Elizabeth Spiteri 1 collaboration

Koen Devriendt 1 collaboration

Anneleen Boogaerts 1 collaboration

Marjolein Willemsen 1 collaboration

Margje Sinnema 1 collaboration

Bert B A De Vries 1 collaboration

Erica H Gerkes 1 collaboration

Kosuke Izumi 1 collaboration

Ian D Krantz 1 collaboration

Zhou L Xu 1 collaboration

Jill R Murrell 1 collaboration

Irene Valenzuela 1 collaboration

Ivon Cusco 1 collaboration

Eulàlia Rovira-Moreno 1 collaboration

Yaping Yang 1 collaboration

Varoona Bizaoui 1 collaboration

Olivier Patat 1 collaboration

Laurence Faivre 1 collaboration

Frederic Tran-Mau-Them 1 collaboration

Antonio Vitobello 1 collaboration

Anne-Sophie Denommé-Pichon 1 collaboration

Christophe Philippe 1 collaboration

Stéphane Bezieau 1 collaboration

Benjamin Cogné 1 collaboration

Anna Durkin 1 collaboration

Shadi Albaba 1 collaboration

Andrew E Fry 1 collaboration

Jenny E Morton 1 collaboration

Andrew Douglas 1 collaboration

Ana Beleza 1 collaboration

Denise Williams 1 collaboration

Sally A Lynch 1 collaboration

Natalie Canham 1 collaboration

Virginia Clowes 1 collaboration

Volker Straub 1 collaboration

Katherine Lachlan 1 collaboration

Frances Gibbon 1 collaboration

Mayy El Gamal 1 collaboration

Vinod Varghese 1 collaboration

Michael J Parker 1 collaboration

Ruth Newbury-Ecob 1 collaboration

Alice Gardham 1 collaboration

Neeti Ghali 1 collaboration

Holly K Harris 1 collaboration

Tojo Nakayama 1 collaboration

Jenny Lai 1 collaboration

Boxun Zhao 1 collaboration

Nikoleta Argyrou 1 collaboration

Cynthia S Gubbels 1 collaboration

Aubrie Soucy 1 collaboration

Casie A Genetti 1 collaboration

Victoria Suslovitch 1 collaboration

Lance H Rodan 1 collaboration

George E Tiller 1 collaboration

Gaetan Lesca 1 collaboration

Karen W Gripp 1 collaboration

Reza Asadollahi 1 collaboration

Ada Hamosh 1 collaboration

Carolyn D Applegate 1 collaboration

Ellen van Binsbergen 1 collaboration

Thatjana Gardeitchik 1 collaboration

LaDonna L Immken 1 collaboration

Catherine Buchanan 1 collaboration

Marcia Willing 1 collaboration

Tomi L Toler 1 collaboration

Emily Fassi 1 collaboration

Laura Baker 1 collaboration

Fleur Vansenne 1 collaboration

Xiadong Wang 1 collaboration

Julian L Ambrus 1 collaboration

Madeleine Fannemel 1 collaboration

Jennifer E Posey 1 collaboration

Emanuele Agolini 1 collaboration

Antonio Novelli 1 collaboration

Anita Rauch 1 collaboration

Paranchai Boonsawat 1 collaboration

Christina R Fagerberg 1 collaboration

Martin J Larsen 1 collaboration

Maria Kibaek 1 collaboration

Audrey Labalme 1 collaboration

Alice Poisson 1 collaboration

Katelyn K Payne 1 collaboration

Laurence E Walsh 1 collaboration

Kimberly A Aldinger 1 collaboration

Jorune Balciuniene 1 collaboration

Cara Skraban 1 collaboration

Christopher Gray 1 collaboration

Jill Murrell 1 collaboration

Caleb P Bupp 1 collaboration

Giulia Pascolini 1 collaboration

Paola Grammatico 1 collaboration

Martin Broly 1 collaboration

Sébastien Küry 1 collaboration

Iqra Ghulam Rasool 1 collaboration

Muhammad Yasir Zahoor 1 collaboration

Cornelia Kraus 1 collaboration

Muhammad Iqbal 1 collaboration

Kevin Uguen 1 collaboration

Severine Audebert-Bellanger 1 collaboration

Claude Ferec 1 collaboration

Sylvia Redon 1 collaboration

Janice Baker 1 collaboration

Yunhong Wu 1 collaboration

Guiseppe Zampino 1 collaboration

Steffan Syrbe 1 collaboration

Ines Brosse 1 collaboration

Rami Abou Jamra 1 collaboration

William B Dobyns 1 collaboration

Lilian L Cohen 1 collaboration

Anne Blomhoff 1 collaboration

Thomas Courtin 1 collaboration

Pankaj B Agrawal 1 collaboration

Alan H Beggs 1 collaboration

Timothy W Yu 1 collaboration

Kathleen Rooney 1 collaboration

Liselot van der Laan 1 collaboration

Slavica Trajkova 1 collaboration

Sadegheh Haghshenas 1 collaboration

Raissa Relator 1 collaboration

Peter Lauffer 1 collaboration

Niels Vos 1 collaboration

Michael A Levy 1 collaboration

Gaetano Terrone 1 collaboration

Thierry B de Villemeur 1 collaboration

Nienke Verbeek 1 collaboration

Renske Oegema 1 collaboration

Alfredo Brusco 1 collaboration

Giovanni B Ferrero 1 collaboration

Mala Misra-Isrie 1 collaboration

Ron Hochstenbach 1 collaboration

Mariëlle Alders 1 collaboration

Marcel M A M Mannens 1 collaboration

Mieke M van Haelst 1 collaboration

Peter Henneman 1 collaboration

Willemijn J van Rijt 1 collaboration

Rixt M van der Ende 1 collaboration

Francjan van Spronsen 1 collaboration

Terry G J Derks 1 collaboration

M Rebecca Heiner-Fokkema 1 collaboration

Jantiene C Duvekot 1 collaboration

Annette F Baas 1 collaboration

Hennie Bikker 1 collaboration

Christian Schroer 1 collaboration

Johannes M P J Breur 1 collaboration

Dmitrijs Rots 1 collaboration

Arianne Bouman 1 collaboration

Ayumi Yamada 1 collaboration

Michael Levy 1 collaboration

Alexander J M Dingemans 1 collaboration

Martina Ruiterkamp-Versteeg 1 collaboration

Nicole de Leeuw 1 collaboration

Charlotte W Ockeloen 1 collaboration

Elke de Boer 1 collaboration

Joost Kummeling 1 collaboration

Bregje van Bon 1 collaboration

Hans van Bokhoven 1 collaboration

Nael Nadif Kasri 1 collaboration

Hanka Venselaar 1 collaboration

Marielle Alders 1 collaboration

Jennifer Kerkhof 1 collaboration

Haley McConkey 1 collaboration

Alma Kuechler 1 collaboration

Bart Elffers 1 collaboration

Rixje van Beeck Calkoen 1 collaboration

Susanna Hofman 1 collaboration

Audrey Smith 1 collaboration

Maria Irene Valenzuela 1 collaboration

Siddharth Srivastava 1 collaboration

Zoe Frazier 1 collaboration

Isabelle Maystadt 1 collaboration

Carmelo Piscopo 1 collaboration

Giuseppe Merla 1 collaboration

Gijs W E Santen 1 collaboration

Kay Metcalfe 1 collaboration

Soo-Mi Park 1 collaboration

Laurent Pasquier 1 collaboration

Siddharth Banka 1 collaboration

Dian Donnai 1 collaboration

Daniel Weisberg 1 collaboration

Gertrud Strobl-Wildemann 1 collaboration

Annemieke Wagemans 1 collaboration

Maaike Vreeburg 1 collaboration

Diana Baralle 1 collaboration

Nicola Foulds 1 collaboration

Ingrid Scurr 1 collaboration

Johanna M van Hagen 1 collaboration

Emilia K Bijlsma 1 collaboration

Anna H Hakonen 1 collaboration

Carolina Courage 1 collaboration

David Genevieve 1 collaboration

Lucile Pinson 1 collaboration

Francesca Forzano 1 collaboration

Charu Deshpande 1 collaboration

Maria L Kluskens 1 collaboration

Lindsey Welling 1 collaboration

Astrid S Plomp 1 collaboration

Els K Vanhoutte 1 collaboration

Louisa Kalsner 1 collaboration

Janna A Hol 1 collaboration

Audrey Putoux 1 collaboration

Johanna Lazier 1 collaboration

Pradeep Vasudevan 1 collaboration

Elizabeth Ames 1 collaboration

Jessica O'Shea 1 collaboration

Damien Lederer 1 collaboration

Julie Fleischer 1 collaboration

Mary O'Connor 1 collaboration

Melissa Pauly 1 collaboration

Catherine Kiraly-Borri 1 collaboration

Arjan Bouman 1 collaboration

Chris Barnett 1 collaboration

Marjan Nezarati 1 collaboration

Lauren Borch 1 collaboration

Gea Beunders 1 collaboration

Kübra Özcan 1 collaboration

Stéphanie Miot 1 collaboration

Gerarda Cappuccio 1 collaboration

Katrien Janssens 1 collaboration

Nofar Mor 1 collaboration

Inna Shomer 1 collaboration

Dan Dominissini 1 collaboration

Matthew L Tedder 1 collaboration

Alison M Muir 1 collaboration

Lisenka E L M Vissers 1 collaboration

Yoichi Shinkai 1 collaboration

Tjitske Kleefstra 1 collaboration

Catharina M L Volker-Touw

Affiliations

Publications (7)

Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder.

Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder.

Changes in pediatric plasma acylcarnitines upon fasting for refined interpretation of metabolic stress.

Early Lethal Noncompaction Cardiomyopathy in Siblings With Compound Heterozygous RYR2 Variant.

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Réseau de co-auteurs