Jeroen Mourmans

Affiliations

Department of Pediatrics, Deventer Ziekenhuis, Deventer, The Netherlands.

Publications (3)

Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Elise A Ferreira , Annemarijne R J Veenvliet , Udo F H Engelke , Leo A J Kluijtmans , Marleen C D G Huigen , Brechtje Hoegen , Lonneke de Boer , Maaike C de Vries , Bregje W van Bon , Erika Leenders , Elisabeth A M Cornelissen , Charlotte A Haaxma , Jolanda H Schieving , M Estela Rubio-Gozalbo , Irene M L W Körver-Keularts , Lara M Marten , Susann Diegmann , Alexander J M Rennings , Clara D M van Karnebeek , Richard J Rodenburg , Karlien L M Coene

Inherited CSNK2A1 variants in families with Okur-Chung neurodevelopmental syndrome.

Clinical genetics

Avec: Newell Belnap , Aiai Price-Smith , Keri Ramsey , Kamawela Leka , Anna Abraham , Emma Lieberman , Katie Hassett , Sai Potu , Natasha Rudy , Kirstin Smith , Fady M Mikhail , Kirstin G Monaghan , Andrea Hendershot , Maria Descartes , Matthew J Huentelman , Jennifer Sills , Sampath Rangasamy , Vinodh Narayanan

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype.

Genetics in medicine : official journal of the American College of Medical Genetics

Avec: Paolo Zanoni , Katharina Steindl , Deepanwita Sengupta , Pascal Joset , Angela Bahr , Heinrich Sticht , Mariarosaria Lang-Muritano , Conny M A van Ravenswaaij-Arts , Marwan Shinawi , Marisa Andrews , Tania Attie-Bitach , Isabelle Maystadt , Newell Belnap , Valerie Benoit , Geoffroy Delplancq , Bert B A de Vries , Sarah Grotto , Didier Lacombe , Austin Larson , Katrin Õunap , Giulia Petrilli , Rolph Pfundt , Keri Ramsey , Lot Snijders Blok , Vassilis Tsatsaris , Antonio Vitobello , Laurence Faivre , Patricia G Wheeler , Marijke R Wevers , Monica Wojcik , Markus Zweier , Or Gozani , Anita Rauch

Réseau de co-auteurs

Newell Belnap 2 collaborations

Keri Ramsey 2 collaborations

Elise A Ferreira 1 collaboration

Annemarijne R J Veenvliet 1 collaboration

Udo F H Engelke 1 collaboration

Leo A J Kluijtmans 1 collaboration

Marleen C D G Huigen 1 collaboration

Brechtje Hoegen 1 collaboration

Lonneke de Boer 1 collaboration

Maaike C de Vries 1 collaboration

Bregje W van Bon 1 collaboration

Erika Leenders 1 collaboration

Elisabeth A M Cornelissen 1 collaboration

Charlotte A Haaxma 1 collaboration

Jolanda H Schieving 1 collaboration

M Estela Rubio-Gozalbo 1 collaboration

Irene M L W Körver-Keularts 1 collaboration

Lara M Marten 1 collaboration

Susann Diegmann 1 collaboration

Alexander J M Rennings 1 collaboration

Clara D M van Karnebeek 1 collaboration

Richard J Rodenburg 1 collaboration

Karlien L M Coene 1 collaboration

Aiai Price-Smith 1 collaboration

Kamawela Leka 1 collaboration

Anna Abraham 1 collaboration

Emma Lieberman 1 collaboration

Katie Hassett 1 collaboration

Sai Potu 1 collaboration

Natasha Rudy 1 collaboration

Kirstin Smith 1 collaboration

Fady M Mikhail 1 collaboration

Kirstin G Monaghan 1 collaboration

Andrea Hendershot 1 collaboration

Maria Descartes 1 collaboration

Matthew J Huentelman 1 collaboration

Jennifer Sills 1 collaboration

Sampath Rangasamy 1 collaboration

Vinodh Narayanan 1 collaboration

Paolo Zanoni 1 collaboration

Katharina Steindl 1 collaboration

Deepanwita Sengupta 1 collaboration

Pascal Joset 1 collaboration

Angela Bahr 1 collaboration

Heinrich Sticht 1 collaboration

Mariarosaria Lang-Muritano 1 collaboration

Conny M A van Ravenswaaij-Arts 1 collaboration

Marwan Shinawi 1 collaboration

Marisa Andrews 1 collaboration

Tania Attie-Bitach 1 collaboration

Isabelle Maystadt 1 collaboration

Valerie Benoit 1 collaboration

Geoffroy Delplancq 1 collaboration

Bert B A de Vries 1 collaboration

Sarah Grotto 1 collaboration

Didier Lacombe 1 collaboration

Austin Larson 1 collaboration

Katrin Õunap 1 collaboration

Giulia Petrilli 1 collaboration

Rolph Pfundt 1 collaboration

Lot Snijders Blok 1 collaboration

Vassilis Tsatsaris 1 collaboration

Antonio Vitobello 1 collaboration

Laurence Faivre 1 collaboration

Patricia G Wheeler 1 collaboration

Marijke R Wevers 1 collaboration

Monica Wojcik 1 collaboration

Markus Zweier 1 collaboration

Or Gozani 1 collaboration

Anita Rauch 1 collaboration