Accueil
René Leen
René Leen
Affiliations
Amsterdam UMC location University of Amsterdam, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands; Core Facility Metabolomics, Amsterdam UMC, Amsterdam, The Netherlands.
Publications (7)
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
Genetics in medicine : official journal of the American College of Medical Genetics
Avec:
Clara D M van Karnebeek
,
Maja Tarailo-Graovac
,
Rutger Meinsma
,
Solenne Correard
,
Judith Jansen-Meijer
,
Sergey V Prykhozhij
,
Izabella A Pena
,
Kevin Ban
,
Sarah Schock
,
Vishal Saxena
,
Mia L Pras-Raves
,
Britt I Drögemöller
,
Anita E Grootemaat
,
Nicole N van der Wel
,
Doreen Dobritzsch
,
Winfried Roseboom
,
Bauke V Schomakers
,
Yorrick R J Jaspers
,
Lida Zoetekouw
,
Jeroen Roelofsen
,
Carlos R Ferreira
,
Robin van der Lee
,
Colin J Ross
,
Jakub Kochan
,
Rebecca L McIntyre
,
Jan B van Klinken
,
Michel van Weeghel
,
Gertjan Kramer
,
Bernhard Weschke
,
Philippe Labrune
,
Michèl A Willemsen
,
Daria Riva
,
Barbara Garavaglia
,
John B Moeschler
,
James J Filiano
,
Marc Ekker
,
Jason N Berman
,
David Dyment
,
Frédéric M Vaz
,
Wyeth W Wassermann
,
Riekelt H Houtkooper
,
André B P van Kuilenburg
DNA damage and transcription stress cause ATP-mediated redesign of metabolism and potentiation of anti-oxidant buffering.
Nature communications
Avec:
Chiara Milanese
,
Cíntia R Bombardieri
,
Sara Sepe
,
Sander Barnhoorn
,
César Payán-Goméz
,
Donatella Caruso
,
Matteo Audano
,
Silvia Pedretti
,
Wilbert P Vermeij
,
Renata M C Brandt
,
Akos Gyenis
,
Mirjam M Wamelink
,
Annelieke S de Wit
,
Roel C Janssens
,
André B P van Kuilenburg
,
Nico Mitro
,
Jan H J Hoeijmakers
,
Pier G Mastroberardino
Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation.
Human molecular genetics
Avec:
Sarah Fazal
,
Matt C Danzi
,
André B P van Kuilenburg
,
Selina Reich
,
Andreas Traschütz
,
Benjamin Bender
,
Camilo Toro
,
Karen Usdin
,
Bruce Hayward
,
David R Adams
,
Clara D M van Karnebeek
,
Carlos R Ferreira
,
Precilla D'Sousa
,
Undiagnosed Diseases Network
,
Mustafa Tekin
,
Stephan Züchner
,
Matthis Synofzik
Development of a Biosimilar of Agalsidase Beta for the Treatment of Fabry Disease: Preclinical Evaluation.
Drugs in R&D
Avec:
André B P van Kuilenburg
,
Carla E M Hollak
,
Ana Travella
,
Melisa Jacobs
,
Lucas D Gentilini
,
Karen M M Ghauharali-van der Vlugt
,
Femke S Beers Stet
,
Susan M I Goorden
,
Sanne van der Veen
,
Marcelo Criscuolo
,
Mariana Papouchado
Catecholamine excretion profiles identify clinical subgroups of neuroblastoma patients.
European journal of cancer (Oxford, England : 1990)
Avec:
I R N Verly
,
R Leen
,
J R Meinsma
,
G K J Hooijer
,
C D Savci-Heijink
,
J van Nes
,
M Broekmans
,
R J A Wanders
,
A B P van Kuilenburg
,
G A M Tytgat
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in
The New England journal of medicine
Avec:
André B P van Kuilenburg
,
Maja Tarailo-Graovac
,
Phillip A Richmond
,
Britt I Drögemöller
,
Mahmoud A Pouladi
,
Koroboshka Brand-Arzamendi
,
Doreen Dobritzsch
,
Egor Dolzhenko
,
Michael A Eberle
,
Bruce Hayward
,
Meaghan J Jones
,
Farhad Karbassi
,
Michael S Kobor
,
Janet Koster
,
Daman Kumari
,
Meng Li
,
Julia MacIsaac
,
Cassandra McDonald
,
Judith Meijer
,
Charlotte Nguyen
,
Indhu-Shree Rajan-Babu
,
Stephen W Scherer
,
Bernice Sim
,
Brett Trost
,
Laura A Tseng
,
Marjolein Turkenburg
,
Joke J F A van Vugt
,
Jan H Veldink
,
Jagdeep S Walia
,
Youdong Wang
,
Michel van Weeghel
,
Galen E B Wright
,
Xiaohong Xu
,
Ryan K C Yuen
,
Jinqiu Zhang
,
Colin J Ross
,
Wyeth W Wasserman
,
Michael T Geraghty
,
Saikat Santra
,
Ronald J A Wanders
,
Xiao-Yan Wen
,
Hans R Waterham
,
Karen Usdin
,
Clara D M van Karnebeek
Urinary 3-Methoxytyramine Is a Biomarker for MYC Activity in Patients With Neuroblastoma.
JCO precision oncology
Avec:
Iedan R N Verly
,
Yvette A H Matser
,
Rutger Meinsma
,
Marta Fiocco
,
Jan Koster
,
Richard Volckmann
,
Dilara Savci-Heijink
,
Giuliana Cangemi
,
Sebastiano Barco
,
Linda J Valentijn
,
Godelieve A M Tytgat
,
André B P van Kuilenburg
Réseau de co-auteurs
André B P van Kuilenburg
6 collaborations
Clara D M van Karnebeek
3 collaborations
Maja Tarailo-Graovac
2 collaborations
Rutger Meinsma
2 collaborations
Britt I Drögemöller
2 collaborations
Doreen Dobritzsch
2 collaborations
Carlos R Ferreira
2 collaborations
Colin J Ross
2 collaborations
Michel van Weeghel
2 collaborations
Karen Usdin
2 collaborations
Bruce Hayward
2 collaborations
Solenne Correard
1 collaboration
Judith Jansen-Meijer
1 collaboration
Sergey V Prykhozhij
1 collaboration
Izabella A Pena
1 collaboration
Kevin Ban
1 collaboration
Sarah Schock
1 collaboration
Vishal Saxena
1 collaboration
Mia L Pras-Raves
1 collaboration
Anita E Grootemaat
1 collaboration
Nicole N van der Wel
1 collaboration
Winfried Roseboom
1 collaboration
Bauke V Schomakers
1 collaboration
Yorrick R J Jaspers
1 collaboration
Lida Zoetekouw
1 collaboration
Jeroen Roelofsen
1 collaboration
Robin van der Lee
1 collaboration
Jakub Kochan
1 collaboration
Rebecca L McIntyre
1 collaboration
Jan B van Klinken
1 collaboration
Gertjan Kramer
1 collaboration
Bernhard Weschke
1 collaboration
Philippe Labrune
1 collaboration
Michèl A Willemsen
1 collaboration
Daria Riva
1 collaboration
Barbara Garavaglia
1 collaboration
John B Moeschler
1 collaboration
James J Filiano
1 collaboration
Marc Ekker
1 collaboration
Jason N Berman
1 collaboration
David Dyment
1 collaboration
Frédéric M Vaz
1 collaboration
Wyeth W Wassermann
1 collaboration
Riekelt H Houtkooper
1 collaboration
Chiara Milanese
1 collaboration
Cíntia R Bombardieri
1 collaboration
Sara Sepe
1 collaboration
Sander Barnhoorn
1 collaboration
César Payán-Goméz
1 collaboration
Donatella Caruso
1 collaboration
Matteo Audano
1 collaboration
Silvia Pedretti
1 collaboration
Wilbert P Vermeij
1 collaboration
Renata M C Brandt
1 collaboration
Akos Gyenis
1 collaboration
Mirjam M Wamelink
1 collaboration
Annelieke S de Wit
1 collaboration
Roel C Janssens
1 collaboration
Nico Mitro
1 collaboration
Jan H J Hoeijmakers
1 collaboration
Pier G Mastroberardino
1 collaboration
Sarah Fazal
1 collaboration
Matt C Danzi
1 collaboration
Selina Reich
1 collaboration
Andreas Traschütz
1 collaboration
Benjamin Bender
1 collaboration
Camilo Toro
1 collaboration
David R Adams
1 collaboration
Precilla D'Sousa
1 collaboration
Undiagnosed Diseases Network
1 collaboration
Mustafa Tekin
1 collaboration
Stephan Züchner
1 collaboration
Matthis Synofzik
1 collaboration
Carla E M Hollak
1 collaboration
Ana Travella
1 collaboration
Melisa Jacobs
1 collaboration
Lucas D Gentilini
1 collaboration
Karen M M Ghauharali-van der Vlugt
1 collaboration
Femke S Beers Stet
1 collaboration
Susan M I Goorden
1 collaboration
Sanne van der Veen
1 collaboration
Marcelo Criscuolo
1 collaboration
Mariana Papouchado
1 collaboration
I R N Verly
1 collaboration
R Leen
1 collaboration
J R Meinsma
1 collaboration
G K J Hooijer
1 collaboration
C D Savci-Heijink
1 collaboration
J van Nes
1 collaboration
M Broekmans
1 collaboration
R J A Wanders
1 collaboration
A B P van Kuilenburg
1 collaboration
G A M Tytgat
1 collaboration
Phillip A Richmond
1 collaboration
Mahmoud A Pouladi
1 collaboration
Koroboshka Brand-Arzamendi
1 collaboration
Egor Dolzhenko
1 collaboration
Michael A Eberle
1 collaboration
Meaghan J Jones
1 collaboration
Farhad Karbassi
1 collaboration
Michael S Kobor
1 collaboration
Janet Koster
1 collaboration
Daman Kumari
1 collaboration
Meng Li
1 collaboration
Julia MacIsaac
1 collaboration
Cassandra McDonald
1 collaboration
Judith Meijer
1 collaboration
Charlotte Nguyen
1 collaboration
Indhu-Shree Rajan-Babu
1 collaboration
Stephen W Scherer
1 collaboration
Bernice Sim
1 collaboration
Brett Trost
1 collaboration
Laura A Tseng
1 collaboration
Marjolein Turkenburg
1 collaboration
Joke J F A van Vugt
1 collaboration
Jan H Veldink
1 collaboration
Jagdeep S Walia
1 collaboration
Youdong Wang
1 collaboration
Galen E B Wright
1 collaboration
Xiaohong Xu
1 collaboration
Ryan K C Yuen
1 collaboration
Jinqiu Zhang
1 collaboration
Wyeth W Wasserman
1 collaboration
Michael T Geraghty
1 collaboration
Saikat Santra
1 collaboration
Ronald J A Wanders
1 collaboration
Xiao-Yan Wen
1 collaboration
Hans R Waterham
1 collaboration
Iedan R N Verly
1 collaboration
Yvette A H Matser
1 collaboration
Marta Fiocco
1 collaboration
Jan Koster
1 collaboration
Richard Volckmann
1 collaboration
Dilara Savci-Heijink
1 collaboration
Giuliana Cangemi
1 collaboration
Sebastiano Barco
1 collaboration
Linda J Valentijn
1 collaboration
Godelieve A M Tytgat
1 collaboration