Marielle E van Gijn

Diagnostic next generation sequencing in neonatal erythroderma.

Authors:

Edwin Cuperus Vigfús Sigurdsson Peter C van den Akker Marieke C Bolling Mariëlle E van Gijn Suzanne G M A Pasmans

J Dtsch Dermatol Ges 2020 Oct 26. Epub 2020 Oct 26.

Department of Dermatology, Center of Pediatric Dermatology, Erasmus MC University Medical Center Rotterdam-Sophia Children's Hospital, Rotterdam, The Netherlands.

View Article and Find Full Text PDF

October 2020

Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands.

J Clin Immunol 2021 Jan 18;41(1):99-108. Epub 2020 Oct 18.

Department of Pediatrics, Laboratory for Pediatric Immunology, Willem-Alexander Children's Hospital, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands.

View Article and Find Full Text PDF

January 2021

CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations.

Authors:

Shuang Li K Joeri van der Velde Dick de Ridder Aalt D J van Dijk Dimitrios Soudis Leslie R Zwerwer Patrick Deelen Dennis Hendriksen Bart Charbon Marielle E van Gijn Kristin Abbott Birgit Sikkema-Raddatz Cleo C van Diemen Wilhelmina S Kerstjens-Frederikse Richard J Sinke Morris A Swertz

Genome Med 2020 08 24;12(1):75. Epub 2020 Aug 24.

Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.

View Article and Find Full Text PDF

August 2020

National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies.

Authors:

Kim Elsink Manon M H Huibers Iris H I M Hollink Lars T van der Veken Robert F Ernst Annet Simons Evelien Zonneveld-Huijssoon Annemieke H van der Hout Kristin M Abbott Alexander Hoischen Marc Pieterse Taco W Kuijpers Joris M van Montfrans Mariëlle E van Gijn

Eur J Hum Genet 2021 Jan 30;29(1):20-28. Epub 2020 Jul 30.

Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

View Article and Find Full Text PDF

January 2021

Collodion babies: A 15-year retrospective multicenter study in The Netherlands-Evaluation of severity scores to predict the underlying disease.

Authors:

Edwin Cuperus Marieke C Bolling Marlies de Graaf Peter C van den Akker Marielle E van Gijn Marleen E H Simon Vigfús Sigurdsson Suzanne G M A Pasmans

J Am Acad Dermatol 2020 Jun 12. Epub 2020 Jun 12.

Department of Dermatology, Erasmus MC Medical Center-Sophia Children's Hospital, Rotterdam, The Netherlands. Electronic address:

View Article and Find Full Text PDF

June 2020

ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.

Clin Chem 2020 04;66(4):525-536

Department of Medical Genetics, Rare Diseases and Personalized Medicine, Reference Center CEREMAIA, CHU Montpellier, University of Montpellier, Montpellier, France.

View Article and Find Full Text PDF

April 2020

Cost and impact of early diagnosis in primary immunodeficiency disease: A literature review.

Authors:

Kim Elsink Joris M van Montfrans Mariëlle E van Gijn Maartje Blom P Martin van Hagen T W Kuijpers Geert W J Frederix

Clin Immunol 2020 04 5;213:108359. Epub 2020 Feb 5.

Julius Center for Health Sciences and Primary Care, University Medical Centre Utrecht, Utrecht, The Netherlands. Electronic address:

View Article and Find Full Text PDF

April 2020

Phenotypic variability including Behçet's disease-like manifestations in DADA2 patients due to a homozygous c.973-2A>G splice site mutation.

Authors:

Gijs T J van Well Benjamin Kant Annabel van Nistelrooij Sema Sirma Ekmekci Stefanie V Henriet Esther Hoppenreijs Marcel van Deuren Joris van Montfrans Stefan Nierkens Ahmet Gül Mariëlle E van Gijn

Clin Exp Rheumatol 2019 Nov-Dec;37 Suppl 121(6):142-146. Epub 2019 Dec 9.

Department of Genetics, University Medical Centre Groningen, The Netherlands.

View Article and Find Full Text PDF

January 2020

Gene Mosaicism Screening Using Single-Molecule Molecular Inversion Probes in Routine Diagnostics for Systemic Autoinflammatory Diseases.

Authors:

Benjamin Kant Ellen C Carbo Iris Kokmeijer Jelske J M Oosterman Joost Frenkel Morris A Swertz Johannes K Ploos van Amstel Juan I Aróstegui Marco J Koudijs Mariëlle E van Gijn

J Mol Diagn 2019 11 20;21(6):943-950. Epub 2019 Aug 20.

Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.

View Article and Find Full Text PDF

November 2019

Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.

Hum Mutat 2019 12 3;40(12):2230-2238. Epub 2019 Sep 3.

Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

View Article and Find Full Text PDF

December 2019

Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers.

Authors:

Riccardo Papa Marta Rusmini Stefano Volpi Roberta Caorsi Paolo Picco Alice Grossi Francesco Caroli Francesca Bovis Valeria Musso Laura Obici Cinzia Castana Angelo Ravelli Marielle E Van Gijn Isabella Ceccherini Marco Gattorno

Rheumatology (Oxford) 2020 02;59(2):458

Autoinflammatory Diseases and Immunodeficiencies Centre, Pediatric Rheumatology Clinic, IRCCS Giannina Gaslini Institute, University of Genoa.

View Article and Find Full Text PDF

February 2020

Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers.

Authors:

Riccardo Papa Marta Rusmini Stefano Volpi Roberta Caorsi Paolo Picco Alice Grossi Francesco Caroli Francesca Bovis Valeria Musso Laura Obici Cinzia Castana Angelo Ravelli Marielle E Van Gijn Isabella Ceccherini Marco Gattorno

Rheumatology (Oxford) 2020 02;59(2):344-360

Autoinflammatory Diseases and Immunodeficiencies Centre, Pediatric Rheumatology Clinic, IRCCS Giannina Gaslini Institute, University of Genoa.

View Article and Find Full Text PDF

February 2020

Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review.

Authors:

Hemmo A F Yska Kim Elsink Taco W Kuijpers Geert W J Frederix Mariëlle E van Gijn Joris M van Montfrans

J Clin Immunol 2019 08 28;39(6):577-591. Epub 2019 Jun 28.

Department of Pediatric Immunology and Infectious Diseases, University Medical Centre Utrecht, Utrecht, The Netherlands.

View Article and Find Full Text PDF

August 2019

Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation.

Authors:

Beate Hagl Benedikt D Spielberger Silvia Thoene Sophie Bonnal Christian Mertes Christof Winter Isaac J Nijman Shira Verduin Andreas C Eberherr Anne Puel Detlev Schindler Jürgen Ruland Thomas Meitinger Julien Gagneur Jordan S Orange Marielle E van Gijn Ellen D Renner

Sci Rep 2018 11 13;8(1):16719. Epub 2018 Nov 13.

Chair and Institute of Environmental Medicine, UNIKA-T, Technical University of Munich and Helmholtz Zentrum Munich, Munich/Augsburg, Munich, Germany.

View Article and Find Full Text PDF

November 2018

New workflow for classification of genetic variants' pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID).

Authors:

Marielle E Van Gijn Isabella Ceccherini Yael Shinar Ellen C Carbo Mariska Slofstra Juan I Arostegui Guillaume Sarrabay Dorota Rowczenio Ebun Omoyımnı Banu Balci-Peynircioglu Hal M Hoffman Florian Milhavet Morris A Swertz Isabelle Touitou

J Med Genet 2018 08 29;55(8):530-537. Epub 2018 Mar 29.

Laboratory of Rare and Autoinflammatory Diseases, CHU Montpellier, Montpellier University, INSERM U1183, Montpellier, France.

View Article and Find Full Text PDF

August 2018

Lethal neonatal bone marrow failure syndrome with multiple congenital abnormalities, including limb defects, due to a constitutional deletion of 3' .

Authors:

Lars T van der Veken Merel C Maiburg Floris Groenendaal Mariëlle E van Gijn Andries C Bloem Claudia Erpelinck Stefan Gröschel Mathijs A Sanders Ruud Delwel Marc B Bierings Arjan Buijs

Haematologica 2018 04 8;103(4):e173-e176. Epub 2018 Feb 8.

Department of Genetics, University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht University, Rotterdam, the Netherlands

View Article and Find Full Text PDF

April 2018

Congenital erythroderma should be considered as an urgent warning sign of immunodeficiency: a case of Omenn syndrome.

Authors:

Edwin Cuperus Joris M VAN Montfrans Mariëlle E VAN Gijn Maarten T Bastiaens Mirjam Ma DE Willigen Roos J Leguit Carla Afm Brijnzeel-Koomen Ingrid Mb RusseL Suzanne Gma Pasmans

Eur J Dermatol 2017 06;27(3):313-314

Erasmus Medical Centre, Department of Dermatology, Rotterdam, The Netherlands, University Medical Centre Utrecht, Department of Dermatology, Utrecht, The Netherlands.

View Article and Find Full Text PDF

June 2017

Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.

Rheumatology (Oxford) 2016 May 10;55(5):902-10. Epub 2016 Feb 10.

Department of Medical Genetics, University Medical Center Utrecht, Utrecht.

View Article and Find Full Text PDF

May 2016

Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD).

Authors:

Jerold Jeyaratnam Nienke M Ter Haar Monique G M de Sain-van der Velden Hans R Waterham Mariëlle E van Gijn Joost Frenkel

JIMD Rep 2016 27;27:33-8. Epub 2015 Sep 27.

Department of Pediatrics, University Medical Center Utrecht, Utrecht, The Netherlands.

View Article and Find Full Text PDF

May 2016

A novel FcγRIIa Q27W gene variant is associated with common variable immune deficiency through defective FcγRIIa downstream signaling.

Authors:

Thijs W H Flinsenberg Willemijn J Janssen Eszter Herczenik Peter Boross Maaike Nederend Lieneke H Jongeneel Rianne C Scholman Jaap-Jan Boelens Coen Maas Marielle E van Gijn Joris M van Montfrans Jeanette H Leusen Marianne Boes

Clin Immunol 2014 Nov 19;155(1):108-117. Epub 2014 Sep 19.

Laboratory of Translational Immunology, University Medical Center Utrecht, Wilhelmina Children's Hospital, Utrecht, The Netherlands. Electronic address:

View Article and Find Full Text PDF

November 2014

Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome.

Authors:

Heleen D de Koning Mariëlle E van Gijn Monique Stoffels Johanna Jongekrijg Patrick L J M Zeeuwen Martin G Elferink Isaac J Nijman Patrick A M Jansen Kornelia Neveling Jos W M van der Meer Joost Schalkwijk Anna Simon

J Allergy Clin Immunol 2015 Feb 16;135(2):561-4. Epub 2014 Sep 16.

Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences (RIMLS), Nijmegen, The Netherlands; Nijmegen Center for Immunodeficiency and Autoinflammation, Nijmegen, The Netherlands.

View Article and Find Full Text PDF

February 2015