Ron A Wevers

Affiliations
  • Department of Laboratory Medicine, Translational Metabolic Laboratory (S.D.K., G.S., R.A.W., D.J.L.), Radboud University Medical Center, Nijmegen, The Netherlands.

Publications (48)

N-Glycosylation Defects in Humans Lower Low-Density Lipoprotein Cholesterol Through Increased Low-Density Lipoprotein Receptor Expression.

Circulation
Avec: Marjolein A W van den Boogert , Lars E Larsen , Lubna Ali , Sacha D Kuil , Patrick L W Chong , Anke Loregger , Jeffrey Kroon , Johan G Schnitzler , Alinda W M Schimmel , Jorge Peter , Johannes H M Levels , Gerry Steenbergen , Eva Morava , Geesje M Dallinga-Thie , Ron A Wevers , Jan Albert Kuivenhoven , Nicholas J Hand , Noam Zelcer , Daniel J Rader , Erik S G Stroes , Dirk J Lefeber , Adriaan G Holleboom

PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.

Brain : a journal of neurology
Avec: Devon L Johnstone , Hilal H Al-Shekaili , Maja Tarailo-Graovac , Nicole I Wolf , Autumn S Ivy , Scott Demarest , Yann Roussel , Jolita Ciapaite , Carlo W T van Roermund , Kristin D Kernohan , Ceres Kosuta , Kevin Ban , Yoko Ito , Skye McBride , Khalid Al-Thihli , Rana A Abdelrahim , Roshan Koul , Amna Al Futaisi , Charlotte A Haaxma , Heather Olson , Laufey Yr Sigurdardottir , Georgianne L Arnold , Erica H Gerkes , M Boon , M Rebecca Heiner-Fokkema , Sandra Noble , Marjolein Bosma , Judith Jans , David A Koolen , Erik-Jan Kamsteeg , Britt Drögemöller , Colin J Ross , Jacek Majewski , Megan T Cho , Amber Begtrup , Wyeth W Wasserman , Tuan Bui , Elise Brimble , Sara Violante , Sander M Houten , Ron A Wevers , Martijn van Faassen , Ido P Kema , Nathalie Lepage , Auteur inconnu , Matthew A Lines , David A Dyment , Ronald J A Wanders , Nanda Verhoeven-Duif , Marc Ekker , Kym M Boycott , Jan M Friedman , Izabella A Pena , Clara D M van Karnebeek

Evaluation of cyclooxygenase oxylipins as potential biomarker for obesity-associated adipose tissue inflammation and type 2 diabetes using targeted multiple reaction monitoring mass spectrometry.

Prostaglandins, leukotrienes, and essential fatty acids
Avec: Roel Tans , Rieke Bande , Arno van Rooij , Billy J Molloy , Rinke Stienstra , Cees J Tack , Ron A Wevers , Hans J C T Wessels , Jolein Gloerich , Alain J van Gool

Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Daisy Rymen , Martijn Lindhout , Maria Spanou , Farah Ashrafzadeh , Ira Benkel , Cornelia Betzler , Christine Coubes , Hans Hartmann , Julie D Kaplan , Diana Ballhausen , Johannes Koch , Jan Lotte , Mohammad Hasan Mohammadi , Marianne Rohrbach , Argirios Dinopoulos , Marieke Wermuth , Daniel Willis , Karin Brugger , Ron A Wevers , Eugen Boltshauser , Jörgen Bierau , Johannes A Mayr , Saskia B Wortmann

Confirmation of neurometabolic diagnoses using age-dependent cerebrospinal fluid metabolomic profiles.

Journal of inherited metabolic disease
Avec: Tessa M A Peters , Udo F H Engelke , Siebolt de Boer , Ed van der Heeft , Cynthia Pritsch , Purva Kulkarni , Ron A Wevers , Michèl A A P Willemsen , Marcel M Verbeek , Karlien L M Coene

Nicotinamide Riboside Improves Ataxia Scores and Immunoglobulin Levels in Ataxia Telangiectasia.

Movement disorders : official journal of the Movement Disorder Society
Avec: Stefanie J G Veenhuis , Nienke J H van Os , Anjo J W M Janssen , Marjo H J C van Gerven , Karlien L M Coene , Udo F H Engelke , Ron A Wevers , Gerjen H Tinnevelt , Rob Ter Heine , Bart P C van de Warrenburg , Corry M R Weemaes , Nel Roeleveld , Michèl A A P Willemsen

Clinical presentation and long-term follow-up of dopamine beta hydroxylase deficiency.

Journal of inherited metabolic disease
Avec: Tessa Wassenberg , Jaap Deinum , Frans J van Ittersum , Erik-Jan Kamsteeg , Maartje Pennings , Marcel M Verbeek , Ron A Wevers , Mirjam E van Albada , Ido P Kema , Jorie Versmissen , Ton van den Meiracker , Jacques W M Lenders , Leo Monnens , Michèl A Willemsen

Amadori rearrangement products as potential biomarkers for inborn errors of amino-acid metabolism.

Communications biology
Avec: Rianne E van Outersterp , Sam J Moons , Udo F H Engelke , Herman Bentlage , Tessa M A Peters , Arno van Rooij , Marleen C D G Huigen , Siebolt de Boer , Ed van der Heeft , Leo A J Kluijtmans , Clara D M van Karnebeek , Ron A Wevers , Giel Berden , Jos Oomens , Thomas J Boltje , Karlien L M Coene , Jonathan Martens

A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening.

International journal of neonatal screening
Avec: Abigail Veldman , M B Gea Kiewiet , Dineke Westra , Annet M Bosch , Marion M G Brands , René I F M de Coo , Terry G J Derks , Sabine A Fuchs , Johanna M P van den Hout , Hidde H Huidekoper , Leo A J Kluijtmans , Klaas Koop , Charlotte M A Lubout , Margaretha F Mulder , Bianca Panis , M Estela Rubio-Gozalbo , Monique G de Sain-van der Velden , Jaqueline Schaefers , Andrea B Schreuder , Gepke Visser , Ron A Wevers , Frits A Wijburg , M Rebecca Heiner-Fokkema , Francjan J van Spronsen

The clinical relevance of novel biomarkers as outcome parameter in adults with phenylketonuria.

Journal of inherited metabolic disease
Avec: A M J van Wegberg , J C van der Weerd , U F H Engelke , K L M Coene , R Jahja , S J L Bakker , S C J Huijbregts , R A Wevers , M R Heiner-Fokkema , F J van Spronsen

Identification of Δ-1-pyrroline-5-carboxylate derived biomarkers for hyperprolinemia type II.

Communications biology
Avec: Jona Merx , Rianne E van Outersterp , Udo F H Engelke , Veronique Hendriks , Ron A Wevers , Marleen C D G Huigen , Huub W A H Waterval , Irene M L W Körver-Keularts , Jasmin Mecinović , Floris P J T Rutjes , Jos Oomens , Karlien L M Coene , Jonathan Martens , Thomas J Boltje

Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit.

Journal of inherited metabolic disease
Avec: Tessa M A Peters , Jona Merx , Pieter C Kooijman , Marek Noga , Siebolt de Boer , Loes A van Gemert , Guido Salden , Udo F H Engelke , Dirk J Lefeber , Rianne E van Outersterp , Giel Berden , Thomas J Boltje , Rafael Artuch , Leticia Pías-Peleteiro , Ángeles García-Cazorla , Ivo Barić , Beat Thöny , Jos Oomens , Jonathan Martens , Ron A Wevers , Marcel M Verbeek , Karlien L M Coene , Michèl A A P Willemsen

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

Molecular genetics and metabolism
Avec: Blai Morales-Romero , Gerard Muñoz-Pujol , Rafael Artuch , Angels García-Cazorla , Mar O'Callaghan , Jolanta Sykut-Cegielska , Jaume Campistol , Pedro Juan Moreno-Lozano , Machteld M Oud , Ron A Wevers , Dirk J Lefeber , Anna Esteve-Codina , Vicente A Yepez , Julien Gagneur , Saskia B Wortmann , Holger Prokisch , Antonia Ribes , Judit García-Villoria , Frederic Tort

Variable Selection in Untargeted Metabolomics and the Danger of Sparsity.

Metabolites
Avec: Gerjen H Tinnevelt , Udo F H Engelke , Ron A Wevers , Stefanie Veenhuis , Michel A Willemsen , Karlien L M Coene , Purva Kulkarni , Jeroen J Jansen

Cerebrotendinous xanthomatosis without neurological involvement.

Journal of internal medicine
Avec: B M L Stelten , F J Raal , A D Marais , N P Riksen , J E Roeters van Lennep , P B Duell , M van der Graaf , L A J Kluijtmans , R A Wevers , A Verrips

Movement disorders in cerebrotendinous xanthomatosis.

Parkinsonism & related disorders
Avec: Bianca M L Stelten , Bart P C van de Warrenburg , Ron A Wevers , Aad Verrips

Mutated SUCLG1 causes mislocalization of SUCLG2 protein, morphological alterations of mitochondria and an early-onset severe neurometabolic disorder.

Molecular genetics and metabolism
Avec: Christos Chinopoulos , Spyros Batzios , Lambertus P van den Heuvel , Richard Rodenburg , Roel Smeets , Hans R Waterham , Marjolein Turkenburg , Jos P Ruiter , Ronald J A Wanders , Judit Doczi , Gergo Horvath , Arpad Dobolyi , Euthymia Vargiami , Ron A Wevers , Dimitrios Zafeiriou

Infrared ion spectroscopy: New opportunities for small-molecule identification in mass spectrometry - A tutorial perspective.

Analytica chimica acta
Avec: Jonathan Martens , Rianne E van Outersterp , Rob J Vreeken , Filip Cuyckens , Karlien L M Coene , Udo F Engelke , Leo A J Kluijtmans , Ron A Wevers , Lutgarde M C Buydens , Britta Redlich , Giel Berden , Jos Oomens

Correction to: A comparison of high‑throughput plasma NMR protocols for comparative untargeted metabolomics.

Metabolomics : Official journal of the Metabolomic Society
Avec: Nikolaos G Bliziotis , Udo F H Engelke , Ruud L E G Aspers , Jasper Engel , Jaap Deinum , Henri J L M Timmers , Ron A Wevers , Leo A J Kluijtmans

Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Saskia B Wortmann , Szymon Ziętkiewicz , Sergio Guerrero-Castillo , René G Feichtinger , Matias Wagner , Jacqui Russell , Carolyn Ellaway , Dagmara Mróz , Hubert Wyszkowski , Denisa Weis , Iris Hannibal , Celina von Stülpnagel , Alfredo Cabrera-Orefice , Uta Lichter-Konecki , Jenna Gaesser , Randy Windreich , Kasiani C Myers , Robert Lorsbach , Russell C Dale , Søren Gersting , Carlos E Prada , John Christodoulou , Nicole I Wolf , Hanka Venselaar , Johannes A Mayr , Ron A Wevers

Metabolomics-Based Screening of Inborn Errors of Metabolism: Enhancing Clinical Application with a Robust Computational Pipeline.

Metabolites
Avec: Brechtje Hoegen , Alan Zammit , Albert Gerritsen , Udo F H Engelke , Steven Castelein , Maartje van de Vorst , Leo A J Kluijtmans , Marleen C D G Huigen , Ron A Wevers , Alain J van Gool , Christian Gilissen , Karlien L M Coene , Purva Kulkarni

Pre- versus post-operative untargeted plasma nuclear magnetic resonance spectroscopy metabolomics of pheochromocytoma and paraganglioma.

Endocrine
Avec: Nikolaos G Bliziotis , Leo A J Kluijtmans , Sebastian Soto , Gerjen H Tinnevelt , Katharina Langton , Mercedes Robledo , Christina Pamporaki , Udo F H Engelke , Zoran Erlic , Jasper Engel , Timo Deutschbein , Svenja Nölting , Aleksander Prejbisz , Susan Richter , Cornelia Prehn , Jerzy Adamski , Andrzej Januszewicz , Martin Reincke , Martin Fassnacht , Graeme Eisenhofer , Felix Beuschlein , Matthias Kroiss , Ron A Wevers , Jeroen J Jansen , Jaap Deinum , Henri J L M Timmers

Targeted Small-Molecule Identification Using Heartcutting Liquid Chromatography-Infrared Ion Spectroscopy.

Analytical chemistry
Avec: Rianne E van Outersterp , Jitse Oosterhout , Christoph R Gebhardt , Giel Berden , Udo F H Engelke , Ron A Wevers , Filip Cuyckens , Jos Oomens , Jonathan Martens

Distinguishing Oligosaccharide Isomers Using Far-Infrared Ion Spectroscopy: Identification of Biomarkers for Inborn Errors of Metabolism.

Analytical chemistry
Avec: Rianne E van Outersterp , Pieter C Kooijman , Jona Merx , Udo F H Engelke , Nematollah Omidikia , Mei-Lan H Tonneijck , Kas J Houthuijs , Giel Berden , Tessa M A Peters , Dirk J Lefeber , Michel A A P Willemsen , Jasmin Mecinovic , Jeroen J Jansen , Karlien L M Coene , Ron A Wevers , Thomas J Boltje , Jos Oomens , Jonathan Martens

The membrane protein ANKH is crucial for bone mechanical performance by mediating cellular export of citrate and ATP.

PLoS genetics
Avec: Flora Szeri , Stefan Lundkvist , Sylvia Donnelly , Udo F H Engelke , Kyu Rhee , Charlene J Williams , John P Sundberg , Ron A Wevers , Ryan E Tomlinson , Robert S Jansen , Koen van de Wetering

The GC-MS metabolomics signature in patients with fibromyalgia syndrome directs to dysbiosis as an aspect contributing factor of FMS pathophysiology.

Metabolomics : Official journal of the Metabolomic Society
Avec: Bontle G Malatji , Shayne Mason , Lodewyk J Mienie , Ron A Wevers , Helgard Meyer , Mari van Reenen , Carolus J Reinecke

Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.

American journal of human genetics
Avec: Clara D M van Karnebeek , Rúben J Ramos , Xiao-Yan Wen , Maja Tarailo-Graovac , Joseph G Gleeson , Cristina Skrypnyk , Koroboshka Brand-Arzamendi , Farhad Karbassi , Mahmoud Y Issa , Robin van der Lee , Britt I Drögemöller , Janet Koster , Justine Rousseau , Philippe M Campeau , Youdong Wang , Feng Cao , Meng Li , Jos Ruiter , Jolita Ciapaite , Leo A J Kluijtmans , Michel A A P Willemsen , Judith J Jans , Colin J Ross , Liesbeth T Wintjes , Richard J Rodenburg , Marleen C D G Huigen , Zhengping Jia , Hans R Waterham , Wyeth W Wasserman , Ronald J A Wanders , Nanda M Verhoeven-Duif , Maha S Zaki , Ron A Wevers

SLC13A3 variants cause acute reversible leukoencephalopathy and α-ketoglutarate accumulation.

Annals of neurology
Avec: Joseph P Dewulf , Elsa Wiame , Imen Dorboz , Monique Elmaleh-Bergès , Apolline Imbard , Dana Dumitriu , Malgorzata Rak , Agnès Bourillon , Raphaël Helaers , Alisha Malla , Florence Renaldo , Odile Boespflug-Tanguy , Marie-Françoise Vincent , Jean-François Benoist , Ron A Wevers , Avner Schlessinger , Emile Van Schaftingen , Marie-Cécile Nassogne , Manuel Schiff

Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start.

Neurology
Avec: Bianca M L Stelten , Hidde H Huidekoper , Bart P C van de Warrenburg , Eva H Brilstra , Carla E M Hollak , Harm R Haak , Leo A J Kluijtmans , Ron A Wevers , Aad Verrips

Metabolite Identification Using Infrared Ion Spectroscopy─Novel Biomarkers for Pyridoxine-Dependent Epilepsy.

Analytical chemistry
Avec: Rianne E van Outersterp , Udo F H Engelke , Jona Merx , Giel Berden , Mathias Paul , Thomas Thomulka , Albrecht Berkessel , Marleen C D G Huigen , Leo A J Kluijtmans , Jasmin Mecinović , Floris P J T Rutjes , Clara D M van Karnebeek , Ron A Wevers , Thomas J Boltje , Karlien L M Coene , Jonathan Martens , Jos Oomens

Lactate infusion as therapeutical intervention: a scoping review.

European journal of pediatrics
Avec: Loes A van Gemert , Bastiaan E de Galan , Ron A Wevers , Rob Ter Heine , Michèl A Willemsen

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

Journal of inherited metabolic disease
Avec: Saskia B Wortmann , Machteld M Oud , Mariëlle Alders , Karlien L M Coene , Saskia N van der Crabben , René G Feichtinger , Alejandro Garanto , Alex Hoischen , Mirjam Langeveld , Dirk Lefeber , Johannes A Mayr , Charlotte W Ockeloen , Holger Prokisch , Richard Rodenburg , Hans R Waterham , Ron A Wevers , Bart P C van de Warrenburg , Michel A A P Willemsen , Nicole I Wolf , Lisenka E L M Vissers , Clara D M van Karnebeek

Long-term MRI Findings in Patients With Cerebrotendinous Xanthomatosis Treated With Chenodeoxycholic Acid.

Neurology
Avec: Bianca M L Stelten , Geert J Lycklama À Nijeholt , Evelien Hendriks , Leo A J Kluijtmans , Ron A Wevers , Aad Verrips

Abnormal concentrations of acetylated amino acids in cerebrospinal fluid in acetyl-CoA transporter deficiency.

Journal of inherited metabolic disease
Avec: Katarina Šikić , Tessa M A Peters , Eugenija Marušić , Ivana Čulo Čagalj , Danijela Petković Ramadža , Tamara Žigman , Ksenija Fumić , Esperanza Fernandez , Kris Gevaert , Željko Debeljak , Ron A Wevers , Ivo Barić

Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns.

Clinica chimica acta; international journal of clinical chemistry
Avec: Frédéric M Vaz , Youssra Jamal , Rob Barto , Michael H Gelb , Andrea E DeBarber , Ron A Wevers , Marcel R Nelen , Aad Verrips , Albert H Bootsma , Marelle J Bouva , Nick Kleise , Walter van der Zee , Tao He , Gajja S Salomons , Hidde H Huidekoper

A spectroscopic test suggests that fragment ion structure annotations in MS/MS libraries are frequently incorrect.

Communications chemistry
Avec: Lara van Tetering , Sylvia Spies , Quirine D K Wildeman , Kas J Houthuijs , Rianne E van Outersterp , Jonathan Martens , Ron A Wevers , David S Wishart , Giel Berden , Jos Oomens

CYP2U1: An emerging treatable neurometabolic disease with cerebral folate deficiency in 2 Chinese brothers.

Molecular genetics and metabolism reports
Avec: Sheila Suet-Na Wong , Liz Yuet-Ping Yuen , Elaine Kan , Nenad Blau , Richard Rodenburg , Ching-Wan Lam , Virginia Chun-Nei Wong , Fanny Mochel , Ron A Wevers , Cheuk-Wing Fung

Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.

Molecular genetics and metabolism
Avec: Itay Tokatly Latzer , Mariarita Bertoldi , Nenad Blau , Melissa L DiBacco , Sarah H Elsea , Àngels García-Cazorla , K Michael Gibson , Andrea L Gropman , Ellen Hanson , Carolyn Hoffman , Kathrin Jeltsch , Natalia Juliá-Palacios , Ina Knerr , Henry H C Lee , Patrizia Malaspina , Alice McConnell , Thomas Opladen , Mari Oppebøen , Alexander Rotenberg , Mark Walterfang , Lee Wang-Tso , Ron A Wevers , Jean-Baptiste Roullet , Phillip L Pearl

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

Journal of inherited metabolic disease
Avec: Miski Mohamed , Thatjana Gardeitchik , Shanti Balasubramaniam , Sergio Guerrero-Castillo , Daisy Dalloyaux , Sanne van Kraaij , Hanka Venselaar , Alexander Hoischen , Zsolt Urban , Ulrich Brandt , Raya Al-Shawi , J Paul Simons , Michele Frison , Lock-Hock Ngu , Bert Callewaert , Hans Spelbrink , Wouter W Kallemeijn , Johannes M F G Aerts , Mark G Waugh , Eva Morava , Ron A Wevers

metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes.

NPJ genomic medicine
Avec: Emma J Graham Linck , Phillip A Richmond , Maja Tarailo-Graovac , Udo Engelke , Leo A J Kluijtmans , Karlien L M Coene , Ron A Wevers , Wyeth Wasserman , Clara D M van Karnebeek , Sara Mostafavi

Evaluation of chitotriosidase as a biomarker for adipose tissue inflammation in overweight individuals and type 2 diabetic patients.

International journal of obesity (2005)
Avec: Roel Tans , Janna A van Diepen , Sabina Bijlsma , Lars Verschuren , Anouk Suppers , Rinke Stienstra , Ron A Wevers , Cees J Tack , Jolein Gloerich , Alain J van Gool

Untargeted metabolomics and infrared ion spectroscopy identify biomarkers for pyridoxine-dependent epilepsy.

The Journal of clinical investigation
Avec: Udo Fh Engelke , Rianne E van Outersterp , Jona Merx , Fred Amg van Geenen , Arno van Rooij , Giel Berden , Marleen Cdg Huigen , Leo Aj Kluijtmans , Tessa Ma Peters , Hilal H Al-Shekaili , Blair R Leavitt , Erik de Vrieze , Sanne Broekman , Erwin van Wijk , Laura A Tseng , Purva Kulkarni , Floris Pjt Rutjes , Jasmin Mecinović , Eduard A Struys , Laura A Jansen , Sidney M Gospe , Saadet Mercimek-Andrews , Keith Hyland , Michèl Aap Willemsen , Levinus A Bok , Clara Dm van Karnebeek , Ron A Wevers , Thomas J Boltje , Jos Oomens , Jonathan Martens , Karlien Lm Coene

The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role.

Cellular and molecular life sciences : CMLS
Avec: Giovanni Bisello , Katarzyna Kusmierska , Marcel M Verbeek , Jolanta Sykut-Cegielska , Michèl A A P Willemsen , Ron A Wevers , Krystyna Szymańska , Jarosław Poznanski , Jakub Drozak , Katarzyna Wertheim-Tysarowska , Agnieszka Magdalena Rygiel , Mariarita Bertoldi

Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disorders.

Journal of inherited metabolic disease
Avec: Brechtje Hoegen , Juliet E Hampstead , Udo F H Engelke , Purva Kulkarni , Ron A Wevers , Han G Brunner , Karlien L M Coene , Christian Gilissen

PPA1 Deficiency Causes a Deranged Galactose Metabolism Recognizable in Neonatal Screening.

Metabolites
Avec: Melanie T Achleitner , Judith J M Jans , Laura Ebner , Johannes Spenger , Vassiliki Konstantopoulou , René G Feichtinger , Karin Brugger , Doris Mayr , Ron A Wevers , Christian Thiel , Saskia B Wortmann , Johannes A Mayr

Discovery of novel diagnostic biomarkers for Sjögren-Larsson syndrome by untargeted lipidomics.

Biochimica et biophysica acta. Molecular and cell biology of lipids
Avec: Frédéric M Vaz , Pippa Staps , Jan Bert van Klinken , Henk van Lenthe , Martin Vervaart , Ronald J A Wanders , Mia L Pras-Raves , Michel van Weeghel , Gajja S Salomons , Sacha Ferdinandusse , Ron A Wevers , Michèl A A P Willemsen

Preanalytical Pitfalls in Untargeted Plasma Nuclear Magnetic Resonance Metabolomics of Endocrine Hypertension.

Metabolites
Avec: Nikolaos G Bliziotis , Leo A J Kluijtmans , Gerjen H Tinnevelt , Parminder Reel , Smarti Reel , Katharina Langton , Mercedes Robledo , Christina Pamporaki , Alessio Pecori , Josie Van Kralingen , Martina Tetti , Udo F H Engelke , Zoran Erlic , Jasper Engel , Timo Deutschbein , Svenja Nölting , Aleksander Prejbisz , Susan Richter , Jerzy Adamski , Andrzej Januszewicz , Filippo Ceccato , Carla Scaroni , Michael C Dennedy , Tracy A Williams , Livia Lenzini , Anne-Paule Gimenez-Roqueplo , Eleanor Davies , Martin Fassnacht , Hanna Remde , Graeme Eisenhofer , Felix Beuschlein , Matthias Kroiss , Emily Jefferson , Maria-Christina Zennaro , Ron A Wevers , Jeroen J Jansen , Jaap Deinum , Henri J L M Timmers

Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia.

Journal of medical genetics
Avec: Nadra Samra , Nicolette S Jansen , Ilham Morani , Reli Rachel Kakun , Rinat Zaid , Tamar Paperna , Mario Garcia-Dominguez , Yuri Viner , Hilel Frankenthal , Eric S Shinwell , Igor Portnov , Doua Bakry , Adel Shalata , Mika Shapira Rootman , Dvora Kidron , Laura A Claessens , Ron A Wevers , Hanna Mandel , Alfred C O Vertegaal , Karin Weiss

Réseau de co-auteurs

Udo F H Engelke 15 collaborations
Karlien L M Coene 13 collaborations
Leo A J Kluijtmans 12 collaborations
Rianne E van Outersterp 9 collaborations
Jos Oomens 9 collaborations
Jonathan Martens 9 collaborations
Giel Berden 8 collaborations
Clara D M van Karnebeek 6 collaborations
Thomas J Boltje 6 collaborations
Saskia B Wortmann 5 collaborations
Tessa M A Peters 5 collaborations
Purva Kulkarni 5 collaborations
Michèl A A P Willemsen 5 collaborations
Marleen C D G Huigen 5 collaborations
Jona Merx 5 collaborations
Dirk J Lefeber 4 collaborations
Ronald J A Wanders 4 collaborations
Johannes A Mayr 4 collaborations
Marcel M Verbeek 4 collaborations
Gerjen H Tinnevelt 4 collaborations
Bart P C van de Warrenburg 4 collaborations
Jaap Deinum 4 collaborations
Jeroen J Jansen 4 collaborations
Aad Verrips 4 collaborations
Maja Tarailo-Graovac 3 collaborations
Nicole I Wolf 3 collaborations
Arno van Rooij 3 collaborations
Alain J van Gool 3 collaborations
Siebolt de Boer 3 collaborations
Hidde H Huidekoper 3 collaborations
Jasmin Mecinović 3 collaborations
Bianca M L Stelten 3 collaborations
Richard Rodenburg 3 collaborations
Hans R Waterham 3 collaborations
Nikolaos G Bliziotis 3 collaborations
Jasper Engel 3 collaborations
Henri J L M Timmers 3 collaborations
René G Feichtinger 3 collaborations
Michel A A P Willemsen 3 collaborations
Eva Morava 2 collaborations
Hilal H Al-Shekaili 2 collaborations
Jolita Ciapaite 2 collaborations
M Rebecca Heiner-Fokkema 2 collaborations
Erik-Jan Kamsteeg 2 collaborations
Colin J Ross 2 collaborations
Wyeth W Wasserman 2 collaborations
Ido P Kema 2 collaborations
Roel Tans 2 collaborations
Rinke Stienstra 2 collaborations
Cees J Tack 2 collaborations
Jolein Gloerich 2 collaborations
Karin Brugger 2 collaborations
Ed van der Heeft 2 collaborations
Rob Ter Heine 2 collaborations
Michèl A Willemsen 2 collaborations
R A Wevers 2 collaborations
Floris P J T Rutjes 2 collaborations
Pieter C Kooijman 2 collaborations
Loes A van Gemert 2 collaborations
Rafael Artuch 2 collaborations
Ivo Barić 2 collaborations
Jolanta Sykut-Cegielska 2 collaborations
Machteld M Oud 2 collaborations
Holger Prokisch 2 collaborations
Filip Cuyckens 2 collaborations
Sergio Guerrero-Castillo 2 collaborations
Hanka Venselaar 2 collaborations
Brechtje Hoegen 2 collaborations
Christian Gilissen 2 collaborations
Katharina Langton 2 collaborations
Mercedes Robledo 2 collaborations
Christina Pamporaki 2 collaborations
Zoran Erlic 2 collaborations
Timo Deutschbein 2 collaborations
Svenja Nölting 2 collaborations
Aleksander Prejbisz 2 collaborations
Susan Richter 2 collaborations
Jerzy Adamski 2 collaborations
Andrzej Januszewicz 2 collaborations
Martin Fassnacht 2 collaborations
Graeme Eisenhofer 2 collaborations
Felix Beuschlein 2 collaborations
Matthias Kroiss 2 collaborations
Kas J Houthuijs 2 collaborations
Frédéric M Vaz 2 collaborations
Gajja S Salomons 2 collaborations
Nenad Blau 2 collaborations
Mariarita Bertoldi 2 collaborations
Marjolein A W van den Boogert 1 collaboration
Lars E Larsen 1 collaboration
Lubna Ali 1 collaboration
Sacha D Kuil 1 collaboration
Patrick L W Chong 1 collaboration
Anke Loregger 1 collaboration
Jeffrey Kroon 1 collaboration
Johan G Schnitzler 1 collaboration
Alinda W M Schimmel 1 collaboration
Jorge Peter 1 collaboration
Johannes H M Levels 1 collaboration
Gerry Steenbergen 1 collaboration
Geesje M Dallinga-Thie 1 collaboration
Jan Albert Kuivenhoven 1 collaboration
Nicholas J Hand 1 collaboration
Noam Zelcer 1 collaboration
Daniel J Rader 1 collaboration
Erik S G Stroes 1 collaboration
Adriaan G Holleboom 1 collaboration
Devon L Johnstone 1 collaboration
Autumn S Ivy 1 collaboration
Scott Demarest 1 collaboration
Yann Roussel 1 collaboration
Carlo W T van Roermund 1 collaboration
Kristin D Kernohan 1 collaboration
Ceres Kosuta 1 collaboration
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