Publications by authors named "Karlien L M Coene"

18 Publications

  • Page 1 of 1

Variable Selection in Untargeted Metabolomics and the Danger of Sparsity.

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

Metabolites 2020 Nov 17;10(11). Epub 2020 Nov 17.

Institute for Molecules and Materials, Radboud University, 6525 AJ Nijmegen, The Netherlands.

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November 2020

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

Authors:
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

NPJ Genom Med 2020 2;5:25. Epub 2020 Jul 2.

BC Children's Hospital Research Institute, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, Canada.

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July 2020

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

Authors:
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

J Inherit Metab Dis 2020 09 23;43(5):1112-1120. Epub 2020 May 23.

Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Nijmegen, The Netherlands.

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September 2020

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

Authors:
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

Anal Chim Acta 2020 Jan 24;1093:1-15. Epub 2019 Oct 24.

Radboud University, Institute for Molecules and Materials, FELIX Laboratory, Toernooiveld 7, 6525 ED, Nijmegen, the Netherlands; van't Hoff Institute for Molecular Sciences, University of Amsterdam, 1098XH, Amsterdam, Science Park 908, the Netherlands. Electronic address:

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January 2020

Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy.

Authors:
Jonathan Martens Giel Berden Herman Bentlage Karlien L M Coene Udo F Engelke David Wishart Monique van Scherpenzeel Leo A J Kluijtmans Ron A Wevers Jos Oomens

J Inherit Metab Dis 2018 05 19;41(3):367-377. Epub 2018 Mar 19.

Radboud University, Institute for Molecules and Materials, FELIX Laboratory, Toernooiveld 7c, 6525ED, Nijmegen, The Netherlands.

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May 2018

Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.

Authors:
Karlien L M Coene Leo A J Kluijtmans Ed van der Heeft Udo F H Engelke Siebolt de Boer Brechtje Hoegen Hanneke J T Kwast Maartje van de Vorst Marleen C D G Huigen Irene M L W Keularts Michiel F Schreuder Clara D M van Karnebeek Saskia B Wortmann Maaike C de Vries Mirian C H Janssen Christian Gilissen Jasper Engel Ron A Wevers

J Inherit Metab Dis 2018 05 16;41(3):337-353. Epub 2018 Feb 16.

Department of Laboratory Medicine, Translational Metabolic Laboratory (TML), Radboud University Medical Center, Geert Groote Plein Zuid 10, 6525, GA, Nijmegen, The Netherlands.

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May 2018

Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectra.

Authors:
Jan Václavík Karlien L M Coene Ivo Vrobel Lukáš Najdekr David Friedecký Radana Karlíková Lucie Mádrová Aleksanteri Petsalo Udo F H Engelke Annemiek van Wegberg Leo A J Kluijtmans Tomáš Adam Ron A Wevers

J Inherit Metab Dis 2018 05 14;41(3):407-414. Epub 2017 Nov 14.

Translational Metabolic Laboratory - 830 TML, Department of Laboratory Medicine, Radboud University Medical Centre, Geert Grooteplein 10, 6525, GA, Nijmegen, the Netherlands.

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May 2018

Practical Value of Anti-Xa Activity in the Evaluation of Extracorporeal Circuit Anticoagulation during Haemodialysis: Results of a Cross-Sectional Single-Centre Study.

Authors:
Karlien L M Coene Marijke J E Dekker Marieke C H M Kerskes Maaike Hengst Marc J M Schonck Constantijn J A M Konings Volkher Scharnhorst

Nephron 2017 18;137(3):205-211. Epub 2017 Aug 18.

Clinical Laboratory, Catharina Hospital Eindhoven, Eindhoven, The Netherlands.

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July 2018

CAD mutations and uridine-responsive epileptic encephalopathy.

Authors:
Johannes Koch Johannes A Mayr Bader Alhaddad Christian Rauscher Jörgen Bierau Reka Kovacs-Nagy Karlien L M Coene Ingrid Bader Monika Holzhacker Holger Prokisch Hanka Venselaar Ron A Wevers Felix Distelmaier Tilman Polster Steffen Leiz Cornelia Betzler Tim M Strom Wolfgang Sperl Thomas Meitinger Saskia B Wortmann Tobias B Haack

Brain 2017 02 21;140(2):279-286. Epub 2016 Dec 21.

Institute of Human Genetics, Technische Universität München, Munich, Germany

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February 2017

Protocolled Redefinition of the Therapeutic Range for Unfractionated Heparin: Lost in Translation?

Authors:
Karlien L M Coene Fedde van der Graaf Daan van de Kerkhof

Clin Appl Thromb Hemost 2018 Jan 16;24(1):164-171. Epub 2016 Nov 16.

1 Clinical Laboratory, Catharina Hospital, Eindhoven, the Netherlands.

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January 2018

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.

Authors:
Karsten Boldt Jeroen van Reeuwijk Qianhao Lu Konstantinos Koutroumpas Thanh-Minh T Nguyen Yves Texier Sylvia E C van Beersum Nicola Horn Jason R Willer Dorus A Mans Gerard Dougherty Ideke J C Lamers Karlien L M Coene Heleen H Arts Matthew J Betts Tina Beyer Emine Bolat Christian Johannes Gloeckner Khatera Haidari Lisette Hetterschijt Daniela Iaconis Dagan Jenkins Franziska Klose Barbara Knapp Brooke Latour Stef J F Letteboer Carlo L Marcelis Dragana Mitic Manuela Morleo Machteld M Oud Moniek Riemersma Susan Rix Paulien A Terhal Grischa Toedt Teunis J P van Dam Erik de Vrieze Yasmin Wissinger Ka Man Wu Gordana Apic Philip L Beales Oliver E Blacque Toby J Gibson Martijn A Huynen Nicholas Katsanis Hannie Kremer Heymut Omran Erwin van Wijk Uwe Wolfrum François Kepes Erica E Davis Brunella Franco Rachel H Giles Marius Ueffing Robert B Russell Ronald Roepman

Nat Commun 2016 05 13;7:11491. Epub 2016 May 13.

Department of Human Genetics and Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, The Netherlands.

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May 2016

Subclinical hypothyroidism: a 'laboratory-induced' condition?

Authors:
Karlien L M Coene Ayse Y Demir Maarten A C Broeren Pauline Verschuure Eef G W M Lentjes Arjen-Kars Boer

Eur J Endocrinol 2015 Oct 28;173(4):499-505. Epub 2015 Jul 28.

Clinical LaboratoryCatharina Hospital, Michelangelolaan 2, 5623 EJ Eindhoven, The NetherlandsClinical LaboratoryMeander Medical Center, Maatweg 3, 3813 TZ Amersfoort, The NetherlandsClinical LaboratoryMáxima Medical Center, De Run 4600, 5504 DB Veldhoven, The NetherlandsClinical LaboratorySint Anna Hospital, Bogardeind 2, 5664 EH Geldrop, The NetherlandsClinical LaboratoryUniversity Medical Center Utrecht, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands.

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October 2015

The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.

Authors:
Karlien L M Coene Dorus A Mans Karsten Boldt C Johannes Gloeckner Jeroen van Reeuwijk Emine Bolat Susanne Roosing Stef J F Letteboer Theo A Peters Frans P M Cremers Marius Ueffing Ronald Roepman

Hum Mol Genet 2011 Sep 17;20(18):3592-605. Epub 2011 Jun 17.

Department of Human Genetics (855), Radboud University Nijmegen Medical Centre, PO Box9101, 6500 HB Nijmegen, The Netherlands.

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September 2011

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

Authors:
Audrey Putoux Sophie Thomas Karlien L M Coene Erica E Davis Yasemin Alanay Gönül Ogur Elif Uz Daniela Buzas Céline Gomes Sophie Patrier Christopher L Bennett Nadia Elkhartoufi Marie-Hélène Saint Frison Luc Rigonnot Nicole Joyé Solenn Pruvost Gulen Eda Utine Koray Boduroglu Patrick Nitschke Laura Fertitta Christel Thauvin-Robinet Arnold Munnich Valérie Cormier-Daire Raoul Hennekam Estelle Colin Nurten Ayse Akarsu Christine Bole-Feysot Nicolas Cagnard Alain Schmitt Nicolas Goudin Stanislas Lyonnet Férechté Encha-Razavi Jean-Pierre Siffroi Mark Winey Nicholas Katsanis Marie Gonzales Michel Vekemans Philip L Beales Tania Attié-Bitach

Nat Genet 2011 Jun 8;43(6):601-6. Epub 2011 May 8.

INSERM U-781, Hôpital Necker-Enfants Malades, Paris, France.

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June 2011

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.

Authors:
Edgar A Otto Toby W Hurd Rannar Airik Moumita Chaki Weibin Zhou Corinne Stoetzel Suresh B Patil Shawn Levy Amiya K Ghosh Carlos A Murga-Zamalloa Jeroen van Reeuwijk Stef J F Letteboer Liyun Sang Rachel H Giles Qin Liu Karlien L M Coene Alejandro Estrada-Cuzcano Rob W J Collin Heather M McLaughlin Susanne Held Jennifer M Kasanuki Gokul Ramaswami Jinny Conte Irma Lopez Joseph Washburn James Macdonald Jinghua Hu Yukiko Yamashita Eamonn R Maher Lisa M Guay-Woodford Hartmut P H Neumann Nicholas Obermüller Robert K Koenekoop Carsten Bergmann Xiaoshu Bei Richard A Lewis Nicholas Katsanis Vanda Lopes David S Williams Robert H Lyons Chi V Dang Daniela A Brito Mónica Bettencourt Dias Xinmin Zhang James D Cavalcoli Gudrun Nürnberg Peter Nürnberg Eric A Pierce Peter K Jackson Corinne Antignac Sophie Saunier Ronald Roepman Helene Dollfus Hemant Khanna Friedhelm Hildebrandt

Nat Genet 2010 Oct 12;42(10):840-50. Epub 2010 Sep 12.

Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan, USA.

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October 2010

Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa.

Authors:
Dikla Bandah-Rozenfeld Rob W J Collin Eyal Banin L Ingeborgh van den Born Karlien L M Coene Anna M Siemiatkowska Lina Zelinger Muhammad I Khan Dirk J Lefeber Inbar Erdinest Francesco Testa Francesca Simonelli Krysta Voesenek Ellen A W Blokland Tim M Strom Caroline C W Klaver Raheel Qamar Sandro Banfi Frans P M Cremers Dror Sharon Anneke I den Hollander

Am J Hum Genet 2010 Aug 30;87(2):199-208. Epub 2010 Jul 30.

Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

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August 2010

OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.

Authors:
Karlien L M Coene Ronald Roepman Dan Doherty Bushra Afroze Hester Y Kroes Stef J F Letteboer Lock H Ngu Bartlomiej Budny Erwin van Wijk Nicholas T Gorden Malika Azhimi Christel Thauvin-Robinet Joris A Veltman Mireille Boink Tjitske Kleefstra Frans P M Cremers Hans van Bokhoven Arjan P M de Brouwer

Am J Hum Genet 2009 Oct;85(4):465-81

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen 6500 HB, The Netherlands.

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October 2009

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

Authors:
Nicholas T Gorden Heleen H Arts Melissa A Parisi Karlien L M Coene Stef J F Letteboer Sylvia E C van Beersum Dorus A Mans Abigail Hikida Melissa Eckert Dana Knutzen Abdulrahman F Alswaid Hamit Ozyurek Sel Dibooglu Edgar A Otto Yangfan Liu Erica E Davis Carolyn M Hutter Theo K Bammler Frederico M Farin Michael Dorschner Meral Topçu Elaine H Zackai Phillip Rosenthal Kelly N Owens Nicholas Katsanis John B Vincent Friedhelm Hildebrandt Edwin W Rubel David W Raible Nine V A M Knoers Phillip F Chance Ronald Roepman Cecilia B Moens Ian A Glass Dan Doherty

Am J Hum Genet 2008 Nov 23;83(5):559-71. Epub 2008 Oct 23.

Division of Genetics and Developmental Medicine, Department of Pediatrics, School of Medicine, University of Washington, Seattle, WA 98195, USA.

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November 2008