New workflow for classification of genetic variants’ pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic Autoinflammatory Diseases (INSAID)
Van Gijn, Marielle E, Ceccherini, Isabella, Shinar, Yael, Carbo, Ellen C, Slofstra, Mariska, Arostegui, Juan I, Sarrabay, Guillaume, Rowczenio, Dorota, Omoyımnı, Ebun, Balci-Peynircioglu, Banu, Hoffman, Hal M, Milhavet, Florian, Swertz, Morris A, Touitou, Isabelle
Published in Journal of medical genetics (01.08.2018)
Published in Journal of medical genetics (01.08.2018)
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ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era
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Published in Clinical chemistry (Baltimore, Md.) (01.04.2020)
Published in Clinical chemistry (Baltimore, Md.) (01.04.2020)
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Transcription Factor Achaete Scute-Like 2 Controls Intestinal Stem Cell Fate
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Published in Cell (06.03.2009)
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CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations
Li, Shuang, van der Velde, K. Joeri, de Ridder, Dick, van Dijk, Aalt D. J, Soudis, Dimitrios, Zwerwer, Leslie R, Deelen, Patrick, Hendriksen, Dennis, Charbon, Bart, van Gijn, Marielle E, Abbott, Kristin, Sikkema-Raddatz, Birgit, van Diemen, Cleo C, Kerstjens-Frederikse, Wilhelmina S, Sinke, Richard J, Swertz, Morris A
Published in Genome medicine (24.08.2020)
Published in Genome medicine (24.08.2020)
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Somatic alterations compromised molecular diagnosis of DOCK8 hyper-IgE syndrome caused by a novel intronic splice site mutation
Hagl, Beate, Spielberger, Benedikt D, Thoene, Silvia, Bonnal, Sophie, Mertes, Christian, Winter, Christof, Nijman, Isaac J, Verduin, Shira, Eberherr, Andreas C, Puel, Anne, Schindler, Detlev, Ruland, Jürgen, Meitinger, Thomas, Gagneur, Julien, Orange, Jordan S, van Gijn, Marielle E, Renner, Ellen D
Published in Scientific reports (13.11.2018)
Published in Scientific reports (13.11.2018)
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Myeloid lineage–restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome
de Koning, Heleen D., MD, van Gijn, Mariëlle E., MD, PhD, Stoffels, Monique, PhD, Jongekrijg, Johanna, BSc, Zeeuwen, Patrick L.J.M., PhD, Elferink, Martin G., PhD, Nijman, Isaac J., PhD, Jansen, Patrick A.M., PhD, Neveling, Kornelia, PhD, van der Meer, Jos W.M., MD, PhD, Schalkwijk, Joost, PhD, Simon, Anna, MD, PhD
Published in Journal of allergy and clinical immunology (01.02.2015)
Published in Journal of allergy and clinical immunology (01.02.2015)
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Feasibility of predicting allele specific expression from DNA sequencing using machine learning
Zhang, Zhenhua, van Dijk, Freerk, de Klein, Niek, van Gijn, Mariëlle E, Franke, Lude H, Sinke, Richard J, Swertz, Morris A, van der Velde, K Joeri
Published in Scientific reports (19.05.2021)
Published in Scientific reports (19.05.2021)
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Parents’ Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands
Blom, Maartje, Bredius, Robbert G. M., Jansen, Marleen E., Weijman, Gert, Kemper, Evelien A., Vermont, Clementien L., Hollink, Iris H. I. M., Dik, Willem A., van Montfrans, Joris M., van Gijn, Mariëlle E., Henriet, Stefanie S., van Aerde, Koen J., Koole, Wouter, Lankester, Arjan C., Dekkers, Eugènie H. B. M., Schielen, Peter C. J. I., de Vries, Martine C., Henneman, Lidewij, van der Burg, Mirjam
Published in Journal of clinical immunology (01.01.2021)
Published in Journal of clinical immunology (01.01.2021)
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National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies
Elsink, Kim, Huibers, Manon M H, Hollink, Iris H I M, van der Veken, Lars T, Ernst, Robert F, Simons, Annet, Zonneveld-Huijssoon, Evelien, van der Hout, Annemieke H, Abbott, Kristin M, Hoischen, Alexander, Pieterse, Marc, Kuijpers, Taco W, van Montfrans, Joris M, van Gijn, Mariëlle E
Published in European journal of human genetics : EJHG (01.01.2021)
Published in European journal of human genetics : EJHG (01.01.2021)
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Lethal neonatal bone marrow failure syndrome with multiple congenital abnormalities, including limb defects, due to a constitutional deletion of 3' MECOM
van der Veken, Lars T, Maiburg, Merel C, Groenendaal, Floris, van Gijn, Mariëlle E, Bloem, Andries C, Erpelinck, Claudia, Gröschel, Stefan, Sanders, Mathijs A, Delwel, Ruud, Bierings, Marc B, Buijs, Arjan
Published in Haematologica (Roma) (01.04.2018)
Published in Haematologica (Roma) (01.04.2018)
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Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS
van der Made, Caspar I., Potjewijd, Judith, Hoogstins, Annemiek, Willems, Huub P.J., Kwakernaak, Arjan J., de Sevaux, Ruud G.L., van Daele, Paul L.A., Simons, Annet, Heijstek, Marloes, Beck, David B., Netea, Mihai G., van Paassen, Pieter, Elizabeth Hak, A., van der Veken, Lars T., van Gijn, Marielle E., Hoischen, Alexander, van de Veerdonk, Frank L., Leavis, Helen L., Rutgers, Abraham
Published in Journal of allergy and clinical immunology (01.01.2022)
Published in Journal of allergy and clinical immunology (01.01.2022)
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Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers
Papa, Riccardo, Rusmini, Marta, Volpi, Stefano, Caorsi, Roberta, Picco, Paolo, Grossi, Alice, Caroli, Francesco, Bovis, Francesca, Musso, Valeria, Obici, Laura, Castana, Cinzia, Ravelli, Angelo, Van Gijn, Marielle E, Ceccherini, Isabella, Gattorno, Marco
Published in Rheumatology (Oxford, England) (01.02.2020)
Published in Rheumatology (Oxford, England) (01.02.2020)
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Dysregulation of miRNA-30e-3p targeting IL-1β in an international cohort of systemic autoinflammatory disease patients
Akbaba, Tayfun Hilmi, Akkaya-Ulum, Yeliz Z., Batu, Ezgi Deniz, Penco, Federica, Wittkowski, Helmut, Kant, Benjamin, van Gijn, Marielle E., Foell, Dirk, Gattorno, Marco, Ozen, Seza, Balci-Peynircioglu, Banu
Published in Journal of molecular medicine (Berlin, Germany) (01.06.2023)
Published in Journal of molecular medicine (Berlin, Germany) (01.06.2023)
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Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations
Van Montfrans, Joris M, Hartman, Esther A R, Braun, Kees P J, Hennekam, Eric A M, Hak, Elisabeth A, Nederkoorn, Paul J, Westendorp, Willeke F, Bredius, Robbert G M, Kollen, Wouter J W, Schölvinck, Elisabeth H, Legger, G Elizabeth, Meyts, Isabelle, Liston, Adrian, Lichtenbelt, Klaske D, Giltay, Jacques C, Van Haaften, Gijs, De Vries Simons, Gaby M, Leavis, Helen, Sanders, Cornelis J G, Bierings, Marc B, Nierkens, Stefan, Van Gijn, Marielle E
Published in Rheumatology (Oxford, England) (01.05.2016)
Published in Rheumatology (Oxford, England) (01.05.2016)
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Systematic reanalysis of genomic data by diagnostic laboratories: a scoping review of ethical, economic, legal and (psycho)social implications
van der Geest, Marije A, Maeckelberghe, Els L M, van Gijn, Marielle E, Lucassen, Anneke M, Swertz, Morris A, van Langen, Irene M, Plantinga, Mirjam
Published in European journal of human genetics : EJHG (01.05.2024)
Published in European journal of human genetics : EJHG (01.05.2024)
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Congenital erythroderma should be considered as an urgent warning sign of immunodeficiency: a case of Omenn syndrome
Cuperus, Edwin, Van Montfrans, Joris M, Van Gijn, Mariëlle E, Bastiaens, Maarten T, De Willigen, Mirjam Ma, Leguit, Roos J, Brijnzeel-Koomen, Carla A F M, Russel, Ingrid M B, Pasmans, Suzanne G M A
Published in EJD. European journal of dermatology (01.05.2017)
Published in EJD. European journal of dermatology (01.05.2017)
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The Intestinal Wnt/TCF Signature
Van der Flier, Laurens G, Sabates-Bellver, Jacob, Oving, Irma, Haegebarth, Andrea, De Palo, Mariagrazia, Anti, Marcello, Van Gijn, Marielle E, Suijkerbuijk, Saskia, Van de Wetering, Marc, Marra, Giancarlo, Clevers, Hans
Published in Gastroenterology (New York, N.Y. 1943) (01.02.2007)
Published in Gastroenterology (New York, N.Y. 1943) (01.02.2007)
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Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review
Yska, Hemmo A. F., Elsink, Kim, Kuijpers, Taco W., Frederix, Geert W. J., van Gijn, Mariëlle E., van Montfrans, Joris M.
Published in Journal of clinical immunology (01.08.2019)
Published in Journal of clinical immunology (01.08.2019)
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Next generation sequencing panel in undifferentiated autoinflammatory diseases identifies patients with colchicine-responder recurrent fevers
Papa, Riccardo, Rusmini, Marta, Volpi, Stefano, Caorsi, Roberta, Picco, Paolo, Grossi, Alice, Caroli, Francesco, Bovis, Francesca, Musso, Valeria, Obici, Laura, Castana, Cinzia, Ravelli, Angelo, Van Gijn, Marielle E, Ceccherini, Isabella, Gattorno, Marco
Published in Rheumatology (Oxford, England) (01.02.2020)
Published in Rheumatology (Oxford, England) (01.02.2020)
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Cost and impact of early diagnosis in primary immunodeficiency disease: A literature review
Elsink, Kim, van Montfrans, Joris M., van Gijn, Mariëlle E., Blom, Maartje, van Hagen, P. Martin, Kuijpers, T.W., Frederix, Geert W.J.
Published in Clinical immunology (Orlando, Fla.) (01.04.2020)
Published in Clinical immunology (Orlando, Fla.) (01.04.2020)
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