Machteld M Oud

Miriam Schmidts 3 collaborations

Joanna Walczak-Sztulpa 3 collaborations

Anna Wawrocka 3 collaborations

Elise A Ferreira 2 collaborations

Clara D M van Karnebeek 2 collaborations

Saskia N van der Crabben 2 collaborations

Mirjam Langeveld 2 collaborations

Nicole I Wolf 2 collaborations

Ronald Roepman 2 collaborations

Aleksander Jamsheer 2 collaborations

Heleen H Arts 2 collaborations

Ewelina Bukowska-Olech 2 collaborations

Ryszard Grenda 2 collaborations

Ewa Obersztyn 2 collaborations

Anna Latos-Bieleńska 2 collaborations

Cenna Doornbos 2 collaborations

Ronald van Beek 2 collaborations

Ernie M H F Bongers 2 collaborations

Lisenka E L M Vissers 2 collaborations

Ron A Wevers 2 collaborations

Saskia B Wortmann 2 collaborations

Holger Prokisch 2 collaborations

Mark J N Buijs 1 collaboration

Robin Wijngaard 1 collaboration

Joost G Daams 1 collaboration

Mareen R Datema 1 collaboration

Marc Engelen 1 collaboration

Frédéric M Vaz 1 collaboration

Mirjam M C Wamelink 1 collaboration

F Graeme Frost 1 collaboration

Marie Morimoto 1 collaboration

Prashant Sharma 1 collaboration

Lyse Ruaud 1 collaboration

Newell Belnap 1 collaboration

Daniel G Calame 1 collaboration

Yuri Uchiyama 1 collaboration

Naomichi Matsumoto 1 collaboration

Vinodh Narayanan 1 collaboration

Sampath Rangasamy 1 collaboration

Matt Huentelman 1 collaboration

Lisa T Emrick 1 collaboration

Ikuko Sato-Shirai 1 collaboration

Satoko Kumada 1 collaboration

Peter J Steinbach 1 collaboration

Yan Huang 1 collaboration

None None 1 collaboration

Barbara N Pusey 1 collaboration

Sandrine Passemard 1 collaboration

Jonathan Levy 1 collaboration

Séverine Drunat 1 collaboration

Marie Vincent 1 collaboration

Agnès Guet 1 collaboration

Emanuele Agolini 1 collaboration

Antonio Novelli 1 collaboration

Maria Cristina Digilio 1 collaboration

Jill A Rosenfeld 1 collaboration

Jennifer L Murphy 1 collaboration

James R Lupski 1 collaboration

Gilbert Vezina 1 collaboration

Ellen F Macnamara 1 collaboration

David R Adams 1 collaboration

Maria T Acosta 1 collaboration

Cynthia J Tifft 1 collaboration

William A Gahl 1 collaboration

May Christine V Malicdan 1 collaboration

Teunis J P van Dam 1 collaboration

Julie Kennedy 1 collaboration

Robin van der Lee 1 collaboration

Erik de Vrieze 1 collaboration

Kirsten A Wunderlich 1 collaboration

Suzanne Rix 1 collaboration

Gerard W Dougherty 1 collaboration

Nils J Lambacher 1 collaboration

Chunmei Li 1 collaboration

Victor L Jensen 1 collaboration

Michel R Leroux 1 collaboration

Rim Hjeij 1 collaboration

Nicola Horn 1 collaboration

Yves Texier 1 collaboration

Yasmin Wissinger 1 collaboration

Jeroen van Reeuwijk 1 collaboration

Gabrielle Wheway 1 collaboration

Barbara Knapp 1 collaboration

Jan F Scheel 1 collaboration

Brunella Franco 1 collaboration

Dorus A Mans 1 collaboration

Erwin van Wijk 1 collaboration

François Képès 1 collaboration

Gisela G Slaats 1 collaboration

Grischa Toedt 1 collaboration

Hannie Kremer 1 collaboration

Heymut Omran 1 collaboration

Katarzyna Szymanska 1 collaboration

Konstantinos Koutroumpas 1 collaboration

Marius Ueffing 1 collaboration

Thanh-Minh T Nguyen 1 collaboration

Stef J F Letteboer 1 collaboration

Sylvia E C van Beersum 1 collaboration

Philip L Beales 1 collaboration

Qianhao Lu 1 collaboration

Rachel H Giles 1 collaboration

Radek Szklarczyk 1 collaboration

Robert B Russell 1 collaboration

Toby J Gibson 1 collaboration

Colin A Johnson 1 collaboration

Oliver E Blacque 1 collaboration

Uwe Wolfrum 1 collaboration

Karsten Boldt 1 collaboration

Victor Hernandez-Hernandez 1 collaboration

Martijn A Huynen 1 collaboration

Renata Posmyk 1 collaboration

Ewelina M Bukowska-Olech 1 collaboration

Anna Latos-Bielenska 1 collaboration

Anna Wasilewska 1 collaboration

Małgorzata Stańczyk 1 collaboration

Karolina Pesz 1 collaboration

Lech Dudarewicz 1 collaboration

Sławomir Chrul 1 collaboration

Nina Wieczorek-Cichecka 1 collaboration

Robert Śmigiel 1 collaboration

Krystyna H Chrzanowska 1 collaboration

Dorien Lugtenberg 1 collaboration

Peter H M Klaren 1 collaboration

Anna Sowińska-Seidler 1 collaboration

Maciej R Krawczyński 1 collaboration

Blai Morales-Romero 1 collaboration

Gerard Muñoz-Pujol 1 collaboration

Rafael Artuch 1 collaboration

Angels García-Cazorla 1 collaboration

Mar O'Callaghan 1 collaboration

Jolanta Sykut-Cegielska 1 collaboration

Jaume Campistol 1 collaboration

Pedro Juan Moreno-Lozano 1 collaboration

Dirk J Lefeber 1 collaboration

Anna Esteve-Codina 1 collaboration

Vicente A Yepez 1 collaboration

Julien Gagneur 1 collaboration

Antonia Ribes 1 collaboration

Judit García-Villoria 1 collaboration

Frederic Tort 1 collaboration

Mariëlle Alders 1 collaboration

Karlien L M Coene 1 collaboration

René G Feichtinger 1 collaboration

Alejandro Garanto 1 collaboration

Alex Hoischen 1 collaboration

Dirk Lefeber 1 collaboration

Johannes A Mayr 1 collaboration

Charlotte W Ockeloen 1 collaboration

Richard Rodenburg 1 collaboration

Hans R Waterham 1 collaboration

Bart P C van de Warrenburg 1 collaboration

Michel A A P Willemsen 1 collaboration

Affiliations

Publications (9)

Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing).

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis.

CiliaCarta: An integrated and validated compendium of ciliary genes.

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease.

Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.

Cell-based assay for ciliopathy patients to improve accurate diagnosis using ALPACA.

Identical

Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.

How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.

Réseau de co-auteurs