Rick Kamps

Knockdown Results in Reduction of mtDNA Copy Number, OXPHOS Deficiency and Abnormalities in Zebrafish Embryos.

Authors:

Auke B C Otten Rick Kamps Patrick Lindsey Mike Gerards Hélène Pendeville-Samain Marc Muller Florence H J van Tienen Hubert J M Smeets

Front Cell Dev Biol 2020 12;8:381. Epub 2020 Jun 12.

Department of Genetics and Cell Biology, Maastricht University, Maastricht, Netherlands.

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June 2020

The Missing "lnc" between Genetics and Cardiac Disease.

Authors:

Maral Azodi Rick Kamps Stephane Heymans Emma Louise Robinson

Noncoding RNA 2020 Jan 14;6(1). Epub 2020 Jan 14.

Department of Cardiology, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University, 6200 MD Maastricht, PO Box 616, The Netherlands.

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January 2020

Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.

Front Genet 2018 12;9:400. Epub 2018 Oct 12.

Department of Genetics and Cell Biology, Maastricht University Medical Centre, Maastricht, Netherlands.

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October 2018

Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.

Authors:

Rick Kamps Radek Szklarczyk Tom E Theunissen Debby M E I Hellebrekers Suzanne C E H Sallevelt Iris B Boesten Bart de Koning Bianca J van den Bosch Gajja S Salomons Marisa Simas-Mendes Rob Verdijk Kees Schoonderwoerd Irenaeus F M de Coo Jo M Vanoevelen Hubert J M Smeets

Eur J Hum Genet 2018 04 13;26(4):537-551. Epub 2018 Feb 13.

Department of Genetics and Cell Biology, Maastricht University, Maastricht, The Netherlands.

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April 2018

Human embryonic stem cell-derived cardiomyocytes as an in vitro model to study cardiac insulin resistance.

Authors:

Ilvy M E Geraets Dipanjan Chanda Florence H J van Tienen Arthur van den Wijngaard Rick Kamps Dietbert Neumann Yilin Liu Jan F C Glatz Joost J F P Luiken Miranda Nabben

Biochim Biophys Acta Mol Basis Dis 2018 May 20;1864(5 Pt B):1960-1967. Epub 2017 Dec 20.

Department of Genetics and Cell Biology, School for Cardiovascular Diseases (CARIM), Maastricht University, Maastricht, The Netherlands. Electronic address:

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May 2018

Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect.

Authors:

Tom E J Theunissen Mike Gerards Debby M E I Hellebrekers Florence H van Tienen Rick Kamps Suzanne C E H Sallevelt Elvira N M M-D Hartog Hans R Scholte Robert M Verdijk Kees Schoonderwoerd Irenaeus F M de Coo Radek Szklarczyk Hubert J M Smeets

Front Mol Neurosci 2017 18;10:336. Epub 2017 Oct 18.

Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands.

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October 2017

Next-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification.

Authors:

Rick Kamps Rita D Brandão Bianca J van den Bosch Aimee D C Paulussen Sofia Xanthoulea Marinus J Blok Andrea Romano

Int J Mol Sci 2017 Jan 31;18(2). Epub 2017 Jan 31.

Department of Gynaecology and Obstetrics: GROW-School for Oncology and Developmental Biology, Maastricht University Medical Centre, 6229HX Maastricht, The Netherlands.

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January 2017

Rapid Resolution of Blended or Composite Multigenic Disease in Infants by Whole-Exome Sequencing.

Authors:

Tom E J Theunissen Suzanne C E H Sallevelt Debby M E I Hellebrekers Bart de Koning Alexandra T M Hendrickx Bianca J C van den Bosch Rick Kamps Kees Schoonderwoerd Radek Szklarczyk Elvira N M Mulder-Den Hartog Irenaeus F M de Coo Hubert J M Smeets

J Pediatr 2017 03 9;182:371-374.e2. Epub 2017 Jan 9.

Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands. Electronic address:

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March 2017

Specific MRI Abnormalities Reveal Severe Perrault Syndrome due to CLPP Defects.

Authors:

Tom E J Theunissen Radek Szklarczyk Mike Gerards Debby M E I Hellebrekers Elvira N M Mulder-Den Hartog Jo Vanoevelen Rick Kamps Bart de Koning S Lane Rutledge Thomas Schmitt-Mechelke Carola G M van Berkel Marjo S van der Knaap Irenaeus F M de Coo Hubert J M Smeets

Front Neurol 2016 16;7:203. Epub 2016 Nov 16.

Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, Netherlands; Department of Genetics and Cell Biology, School for Oncology and Developmental Biology, Maastricht University Medical Centre, Maastricht, Netherlands; Maastricht Centre for Systems Biology (MaCSBio), Maastricht, Netherlands.

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November 2016

Replication Errors Made During Oogenesis Lead to Detectable De Novo mtDNA Mutations in Zebrafish Oocytes with a Low mtDNA Copy Number.

Authors:

Auke B C Otten Alphons P M Stassen Michiel Adriaens Mike Gerards Richard G J Dohmen Adriana J Timmer Sabina J V Vanherle Rick Kamps Iris B W Boesten Jo M Vanoevelen Marc Muller Hubert J M Smeets

Genetics 2016 Dec 21;204(4):1423-1431. Epub 2016 Oct 21.

Department of Genetics and Cell Biology, Clinical Genomics Unit, School for Oncology and Developmental Biology, Maastricht University, 6200 MD, The Netherlands

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December 2016

Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients.

Authors:

Balazs Jóri Rick Kamps Sofia Xanthoulea Bert Delvoux Marinus J Blok Koen K Van de Vijver Bart de Koning Felicia Trups Oei Carli M Tops Ernst Jm Speel Roy F Kruitwagen Encarna B Gomez-Garcia Andrea Romano

Oncotarget 2015 Dec;6(38):41108-22

Department of Gynecology and Obstetrics, GROW - School for Oncology & Developmental Biology, Maastricht University Medical Centre, Maastricht, The Netherlands.

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December 2015

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

Authors:

Terry Vrijenhoek Ken Kraaijeveld Martin Elferink Joep de Ligt Elcke Kranendonk Gijs Santen Isaac J Nijman Derek Butler Godelieve Claes Adalberto Costessi Wim Dorlijn Winfried van Eyndhoven Dicky J J Halley Mirjam C G N van den Hout Steven van Hove Lennart F Johansson Jan D H Jongbloed Rick Kamps Christel E M Kockx Bart de Koning Marjolein Kriek Ronald Lekanne Dit Deprez Hans Lunstroo Marcel Mannens Olaf R Mook Marcel Nelen Corrette Ploem Marco Rijnen Jasper J Saris Richard Sinke Erik Sistermans Marjon van Slegtenhorst Frank Sleutels Nienke van der Stoep Marianne van Tienhoven Martijn Vermaat Maartje Vogel Quinten Waisfisz Janneke Marjan Weiss Arthur van den Wijngaard Wilbert van Workum Helger Ijntema Bert van der Zwaag Wilfred F J van IJcken Johan T den Dunnen Joris A Veltman Raoul Hennekam Edwin Cuppen

Eur J Hum Genet 2015 Sep;23(9):1270

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September 2015

Pathogenic CWF19L1 variants as a novel cause of autosomal recessive cerebellar ataxia and atrophy.

Authors:

Minh Nguyen Iris Boesten Debby M E I Hellebrekers Jo Vanoevelen Rick Kamps Bart de Koning Irenaeus F M de Coo Mike Gerards Hubert J M Smeets

Eur J Hum Genet 2016 Apr 22;24(4):619-22. Epub 2015 Jul 22.

Department of Clinical Genetics, Unit Clinical Genomics, Maastricht University Medical Centre, Maastricht, The Netherlands.

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April 2016

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

Authors:

Terry Vrijenhoek Ken Kraaijeveld Martin Elferink Joep de Ligt Elcke Kranendonk Gijs Santen Isaac J Nijman Derek Butler Godelieve Claes Adalberto Costessi Wim Dorlijn Winfried van Eyndhoven Dicky J J Halley Mirjam C G N van den Hout Steven van Hove Lennart F Johansson Jan D H Jongbloed Rick Kamps Christel E M Kockx Bart de Koning Marjolein Kriek Ronald Lekanne Dit Deprez Hans Lunstroo Marcel Mannens Olaf R Mook Marcel Nelen Corrette Ploem Marco Rijnen Jasper J Saris Richard Sinke Erik Sistermans Marjon van Slegtenhorst Frank Sleutels Nienke van der Stoep Marianne van Tienhoven Martijn Vermaat Maartje Vogel Quinten Waisfisz Janneke Marjan Weiss Arthur van den Wijngaard Wilbert van Workum Helger Ijntema Bert van der Zwaag Wilfred F J van IJcken Johan den Dunnen Joris A Veltman Raoul Hennekam Edwin Cuppen

Eur J Hum Genet 2015 Sep 28;23(9):1142-50. Epub 2015 Jan 28.

Department of Medical Genetics, Centre for Molecular Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.

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September 2015

Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome.

Authors:

Mike Gerards Rick Kamps Jo van Oevelen Iris Boesten Eveline Jongen Bart de Koning Hans R Scholte Isabel de Angst Kees Schoonderwoerd Abdelaziz Sefiani Ilham Ratbi Wouter Coppieters Latifa Karim René de Coo Bianca van den Bosch Hubert Smeets

Brain 2013 Mar 18;136(Pt 3):882-90. Epub 2013 Feb 18.

Department of Genetics and Cell Biology, P.O. Box 616, 6200 MD Maastricht, the Netherlands.

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March 2013

Olfactomedin-4 regulation by estrogen in the human endometrium requires epidermal growth factor signaling.

Authors:

Hellen Dassen Chamindie Punyadeera Bert Delvoux Iris Schulkens Claudia Marchetti Rick Kamps Jan Klomp Fred Dijcks Anton de Goeij Thomas D'Hooghe Cleophas Kyama Antwan Ederveen Gerard Dunselman Patrick Groothuis Andrea Romano

Am J Pathol 2010 Nov;177(5):2495-508

GROW--School for Oncology and Developmental Biology, Department of Pathology, Maastricht University and Medical Centre, 6202 AZ, Maastricht, The Netherlands.

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November 2010