Thatjana Gardeitchik

Rolph Pfundt 6 collaborations

Jonas Denecke 3 collaborations

Eva Morava 3 collaborations

Christian Gilissen 3 collaborations

Koen L I van Gassen 3 collaborations

Davor Lessel 2 collaborations

Steffen Syrbe 2 collaborations

Claudia Schob 2 collaborations

Stefan Kindler 2 collaborations

Han G Brunner 2 collaborations

Rami Abou Jamra 2 collaborations

Christian Kubisch 2 collaborations

Tjitske Kleefstra 2 collaborations

Katrin Õunap 2 collaborations

Tuula Rinne 2 collaborations

Nicole de Leeuw 2 collaborations

Servi J C Stevens 2 collaborations

Lisenka E L M Vissers 2 collaborations

Maartje Pennings 2 collaborations

Erik-Jan Kamsteeg 2 collaborations

Konrad Platzer 2 collaborations

Marleen E H Simon 2 collaborations

David Chitayat 2 collaborations

Ellen van Binsbergen 2 collaborations

Bert B A de Vries 2 collaborations

Daniela M Zeitler 1 collaboration

Margot R F Reijnders 1 collaboration

Andriy Kazantsev 1 collaboration

Fatemeh Hassani Nia 1 collaboration

Alexander Bartholomäus 1 collaboration

Victoria Martens 1 collaboration

Astrid Bruckmann 1 collaboration

Veronika Graus 1 collaboration

Allyn McConkie-Rosell 1 collaboration

Marie McDonald 1 collaboration

Bernarda Lozic 1 collaboration

Ee-Shien Tan 1 collaboration

Erica Gerkes 1 collaboration

Jessika Johannsen 1 collaboration

Aida Telegrafi 1 collaboration

Evelien Zonneveld-Huijssoon 1 collaboration

Henny H Lemmink 1 collaboration

Breana W M Cham 1 collaboration

Tanja Kovacevic 1 collaboration

Linda Ramsdell 1 collaboration

Kimberly Foss 1 collaboration

Diana Le Duc 1 collaboration

Diana Mitter 1 collaboration

Andreas Merkenschlager 1 collaboration

Margje Sinnema 1 collaboration

Bianca Panis 1 collaboration

Joanna Lazier 1 collaboration

Matthew Osmond 1 collaboration

Taila Hartley 1 collaboration

Jeremie Mortreux 1 collaboration

Tiffany Busa 1 collaboration

Chantal Missirian 1 collaboration

Pankaj Prasun 1 collaboration

Sabine Lüttgen 1 collaboration

Ilaria Mannucci 1 collaboration

Ivana Lessel 1 collaboration

John Pappas 1 collaboration

Rachel Rabin 1 collaboration

Marjolein Willemsen 1 collaboration

Katharina Löhner 1 collaboration

Patrick Rump 1 collaboration

Kerith-Rae Dias 1 collaboration

Carey-Anne Evans 1 collaboration

Peter Ian Andrews 1 collaboration

Tony Roscioli 1 collaboration

Chieko Chijiwa 1 collaboration

M E Suzanne Lewis 1 collaboration

David A Dyment 1 collaboration

Kym M Boycott 1 collaboration

Alexander P A Stegmann 1 collaboration

Ene-Choo Tan 1 collaboration

Ghayda M Mirzaa 1 collaboration

Kirsty McWalter 1 collaboration

Zoya Ignatova 1 collaboration

Gunter Meister 1 collaboration

Hans-Jürgen Kreienkamp 1 collaboration

Ruqaiah Altassan 1 collaboration

Romain Péanne 1 collaboration

Jaak Jaeken 1 collaboration

Rita Barone 1 collaboration

Muad Bidet 1 collaboration

Delphine Borgel 1 collaboration

Sandra Brasil 1 collaboration

David Cassiman 1 collaboration

Anna Cechova 1 collaboration

David Coman 1 collaboration

Javier Corral 1 collaboration

Joana Correia 1 collaboration

María Eugenia de la Morena-Barrio 1 collaboration

Pascale de Lonlay 1 collaboration

Vanessa Dos Reis 1 collaboration

Carlos R Ferreira 1 collaboration

Agata Fiumara 1 collaboration

Rita Francisco 1 collaboration

Hudson Freeze 1 collaboration

Simone Funke 1 collaboration

Matthijs Gert 1 collaboration

Muriel Girad 1 collaboration

Marisa Giros 1 collaboration

Stephanie Grünewald 1 collaboration

Trinidad Hernández-Caselles 1 collaboration

Tomas Honzik 1 collaboration

Marlen Hutter 1 collaboration

Donna Krasnewich 1 collaboration

Christina Lam 1 collaboration

Joy Lee 1 collaboration

Dirk Lefeber 1 collaboration

Dorinda Marques-de-Silva 1 collaboration

Antonio F Martinez 1 collaboration

Hossein Moravej 1 collaboration

Carlota Pascoal 1 collaboration

Tiffany Pascreau 1 collaboration

Marc Patterson 1 collaboration

Dulce Quelhas 1 collaboration

Kimiyo Raymond 1 collaboration

Peymaneh Sarkhail 1 collaboration

Manuel Schiff 1 collaboration

Małgorzata Seroczyńska 1 collaboration

Mercedes Serrano 1 collaboration

Nathalie Seta 1 collaboration

Jolanta Sykut-Cegielska 1 collaboration

Christian Thiel 1 collaboration

Federic Tort 1 collaboration

Mari-Anne Vals 1 collaboration

Paula Videira 1 collaboration

Peter Witters 1 collaboration

Renate Zeevaert 1 collaboration

Chantal Deden 1 collaboration

Kornelia Neveling 1 collaboration

Dimitra Zafeiropopoulou 1 collaboration

Brigitte Faas 1 collaboration

Suzanne C E H Sallevelt 1 collaboration

Aimee Paulussen 1 collaboration

Esther Sikkel 1 collaboration

Mariet W Elting 1 collaboration

Merel C van Maarle 1 collaboration

Karin E M Diderich 1 collaboration

Nicole Corsten-Janssen 1 collaboration

Klaske D Lichtenbelt 1 collaboration

Guus Lachmeijer 1 collaboration

Helger G Yntema 1 collaboration

Marcel Nelen 1 collaboration

Ilse Feenstra 1 collaboration

Wendy A G van Zelst-Stams 1 collaboration

Teije H van Prooije 1 collaboration

Lucille Dorresteijn 1 collaboration

Vincent J J Odekerken 1 collaboration

Mayke Oosterloo 1 collaboration

Annie Pedersen 1 collaboration

Corien C Verschuuren-Bemelmans 1 collaboration

Alexander Vrancken 1 collaboration

Bart P C van de Warrenburg 1 collaboration

Miski Mohamed 1 collaboration

Shanti Balasubramaniam 1 collaboration

Sergio Guerrero-Castillo 1 collaboration

Daisy Dalloyaux 1 collaboration

Sanne van Kraaij 1 collaboration

Hanka Venselaar 1 collaboration

Alexander Hoischen 1 collaboration

Zsolt Urban 1 collaboration

Ulrich Brandt 1 collaboration

Raya Al-Shawi 1 collaboration

J Paul Simons 1 collaboration

Michele Frison 1 collaboration

Lock-Hock Ngu 1 collaboration

Bert Callewaert 1 collaboration

Hans Spelbrink 1 collaboration

Wouter W Kallemeijn 1 collaboration

Johannes M F G Aerts 1 collaboration

Mark G Waugh 1 collaboration

Ron A Wevers 1 collaboration

Elyssa Cannaerts 1 collaboration

Marlies Kempers 1 collaboration

Alessandra Maugeri 1 collaboration

Carlo Marcelis 1 collaboration

Julie Richer 1 collaboration

Dimitra Micha 1 collaboration

Luc Beauchesne 1 collaboration

Janneke Timmermans 1 collaboration

Paul Vermeersch 1 collaboration

Nathalie Meyten 1 collaboration

Sébastien Chénier 1 collaboration

Gerarda van de Beek 1 collaboration

Nils Peeters 1 collaboration

Maaike Alaerts 1 collaboration

Dorien Schepers 1 collaboration

Lut Van Laer 1 collaboration

Aline Verstraeten 1 collaboration

Bart Loeys 1 collaboration

Tassja Kalm 1 collaboration

Hanna Völler 1 collaboration

Chiara Klöckner 1 collaboration

Annick Klabunde-Cherwon 1 collaboration

Markus Ries 1 collaboration

Francesca Beccaria 1 collaboration

Francesca Madia 1 collaboration

Marcello Scala 1 collaboration

Federico Zara 1 collaboration

Floris Hofstede 1 collaboration

Richard H van Jaarsveld 1 collaboration

Renske Oegema 1 collaboration

Sjoerd J B Holwerda 1 collaboration

Tahsin Stefan Barakat 1 collaboration

Arjan Bouman 1 collaboration

Marjon van Slegtenhorst 1 collaboration

Sara Álvarez 1 collaboration

Alberto Fernández-Jaén 1 collaboration

Javier Porta 1 collaboration

Andrea Accogli 1 collaboration

Margherita Maria Mancardi 1 collaboration

Pasquale Striano 1 collaboration

Michele Iacomino 1 collaboration

Jong-Hee Chae 1 collaboration

SeSong Jang 1 collaboration

Soo Y Kim 1 collaboration

Saadet Mercimek-Andrews 1 collaboration

Christel Depienne 1 collaboration

Antje Kampmeier 1 collaboration

Alma Kuechler 1 collaboration

Harald Surowy 1 collaboration

Enrico Silvio Bertini 1 collaboration

Francesca Clementina Radio 1 collaboration

Cecilia Mancini 1 collaboration

Simone Pizzi 1 collaboration

Marco Tartaglia 1 collaboration

Lucas Gauthier 1 collaboration

David Genevieve 1 collaboration

Mylène Tharreau 1 collaboration

Noy Azoulay 1 collaboration

Gal Zaks-Hoffer 1 collaboration

Nesia K Gilad 1 collaboration

Naama Orenstein 1 collaboration

Geneviève Bernard 1 collaboration

Isabelle Thiffault 1 collaboration

Theresia Herget 1 collaboration

Fanny Kortüm 1 collaboration

Robert Bähring 1 collaboration

Evelien G G Sprenkeler 1 collaboration

Stefanie S V Henriet 1 collaboration

Anton T J Tool 1 collaboration

Iris C Kreft 1 collaboration

Ivo van der Bijl 1 collaboration

Cathelijn E M Aarts 1 collaboration

Michel van Houdt 1 collaboration

Paul J J H Verkuijlen 1 collaboration

Koen van Aerde 1 collaboration

Gerald Jaspers 1 collaboration

Arno van Heijst 1 collaboration

Wouter Koole 1 collaboration

Judy Geissler 1 collaboration

Martin de Boer 1 collaboration

Simon Tol 1 collaboration

Christine W Bruggeman 1 collaboration

Floris P J van Alphen 1 collaboration

Han J M P Verhagen 1 collaboration

Emile van den Akker 1 collaboration

Hans Janssen 1 collaboration

Robin van Bruggen 1 collaboration

Timo K van den Berg 1 collaboration

Kian D Liem 1 collaboration

Taco W Kuijpers 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

Peter D Turnpenny 1 collaboration

Catharina M L Volker-Touw 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

Mathilde Nizon 1 collaboration

Iqra Ghulam Rasool 1 collaboration

Muhammad Yasir Zahoor 1 collaboration

Cornelia Kraus 1 collaboration

André Reis 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

William B Dobyns 1 collaboration

Lilian L Cohen 1 collaboration

Anne Blomhoff 1 collaboration

Cyril Mignot 1 collaboration

Boris Keren 1 collaboration

Thomas Courtin 1 collaboration

Pankaj B Agrawal 1 collaboration

Alan H Beggs 1 collaboration

Timothy W Yu 1 collaboration

Dmitrijs Rots 1 collaboration

Eric Chater-Diehl 1 collaboration

Alexander J M Dingemans 1 collaboration

Sarah J Goodman 1 collaboration

Michelle T Siu 1 collaboration

Cheryl Cytrynbaum 1 collaboration

Sanaa Choufani 1 collaboration

Ny Hoang 1 collaboration

Susan Walker 1 collaboration

Zain Awamleh 1 collaboration

Joshua Charkow 1 collaboration

Stephen Meyn 1 collaboration

A Chantal Deden 1 collaboration

Erika Leenders 1 collaboration

Michael Kwint 1 collaboration

Constance T R M Stumpel 1 collaboration

Jeroen R Vermeulen 1 collaboration

Jeske V T van Harssel 1 collaboration

Danielle G M Bosch 1 collaboration

Christa M de Geus 1 collaboration

Hein Brackel 1 collaboration

Maja Hempel 1 collaboration

Anne Slavotinek 1 collaboration

Jonathan Strober 1 collaboration

Amy Crunk 1 collaboration

Leandra Folk 1 collaboration

Ingrid M Wentzensen 1 collaboration

Hui Yang 1 collaboration

Fanggeng Zou 1 collaboration

Francisca Millan 1 collaboration

Richard Person 1 collaboration

Yili Xie 1 collaboration

Shuxi Liu 1 collaboration

Lilian B Ousager 1 collaboration

Martin Larsen 1 collaboration

Laura Schultz-Rogers 1 collaboration

Eric W Klee 1 collaboration

Ian R Berry 1 collaboration

Jennifer Campbell 1 collaboration

Kristin Lindstrom 1 collaboration

Brianna Pruniski 1 collaboration

Ann M Neumeyer 1 collaboration

Jessica A Radley 1 collaboration

Chanika Phornphutkul 1 collaboration

Berkley Schmidt 1 collaboration

William G Wilson 1 collaboration

Karit Reinson 1 collaboration

Sander Pajusalu 1 collaboration

Arie van Haeringen 1 collaboration

Claudia Ruivenkamp 1 collaboration

Roos Cuperus 1 collaboration

Fernando Santos-Simarro 1 collaboration

María Palomares-Bralo 1 collaboration

Marta Pacio-Míguez 1 collaboration

Alyssa Ritter 1 collaboration

Elizabeth Bhoj 1 collaboration

Elin Tønne 1 collaboration

Kristian Tveten 1 collaboration

Gerarda Cappuccio 1 collaboration

Nicola Brunetti-Pierri 1 collaboration

Leah Rowe 1 collaboration

Jason Bunn 1 collaboration

Margarita Saenz 1 collaboration

Mareike Mertens 1 collaboration

Oana Caluseriu 1 collaboration

Małgorzata J M Nowaczyk 1 collaboration

Ronald D Cohn 1 collaboration

Peter Kannu 1 collaboration

Ebba Alkhunaizi 1 collaboration

Stephen W Scherer 1 collaboration

David A Koolen 1 collaboration

Rosanna Weksberg 1 collaboration

Rowdy P P Meijer 1 collaboration

Monique Gerrits 1 collaboration

Jannie Janssen 1 collaboration

Meyke Schouten 1 collaboration

Nicol Voermans 1 collaboration

Bart van de Warrenburg 1 collaboration

Affiliations

Publications (11)

Germline AGO2 mutations impair RNA interference and human neurological development.

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging.

A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder.

Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxa.

Novel pathogenic

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

MKL1 deficiency results in a severe neutrophil motility defect due to impaired actin polymerization.

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

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.

Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies.

Réseau de co-auteurs