Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants
Jansen, Mark, Schuldt, Maike, van Driel, Beau O, Schmidt, Amand F, Christiaans, Imke, van der Crabben, Saskia N, Hoedemaekers, Yvonne M, Dooijes, Dennis, Jongbloed, Jan D H, Boven, Ludolf G, Deprez, Ronald H Lekanne, Wilde, Arthur A M, Jans, Judith J M, van der Velden, Jolanda, de Boer, Rudolf A, van Tintelen, J Peter, Asselbergs, Folkert W, Baas, Annette F
Published in International journal of molecular sciences (17.02.2023)
Published in International journal of molecular sciences (17.02.2023)
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Journal Article
Hyperglycemia Stimulates Coagulation, Whereas Hyperinsulinemia Impairs Fibrinolysis in Healthy Humans
STEGENGA, Michiel E, VAN DER CRABBEN, Saskia N, LEVI, Marcel, DE VOS, Alex F, TANCK, Michael W, SAUERWEIN, Hans P, VAN DER POLL, Tom
Published in Diabetes (New York, N.Y.) (01.06.2006)
Published in Diabetes (New York, N.Y.) (01.06.2006)
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Journal Article
Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing)
Ferreira, Elise A, Buijs, Mark J N, Wijngaard, Robin, Daams, Joost G, Datema, Mareen R, Engelen, Marc, van Karnebeek, Clara D M, Oud, Machteld M, Vaz, Frédéric M, Wamelink, Mirjam M C, van der Crabben, Saskia N, Langeveld, Mirjam
Published in Frontiers in neurology (25.07.2023)
Published in Frontiers in neurology (25.07.2023)
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Journal Article
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study
Crefcoeur, Loek, Ferdinandusse, Sacha, van der Crabben, Saskia N, Dekkers, Eugènie, Fuchs, Sabine A, Huidekoper, Hidde, Janssen, Mirian, Langendonk, Janneke, Maase, Rose, de Sain, Monique, Rubio, Estela, van Spronsen, Francjan J, Vaz, Frédéric Maxime, Verschoof, Rendelien, de Vries, Maaike, Wijburg, Frits, Visser, Gepke, Langeveld, Mirjam
Published in Journal of medical genetics (01.12.2023)
Published in Journal of medical genetics (01.12.2023)
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Journal Article
Aminoacyl-tRNA synthetase deficiencies in search of common themes
Fuchs, Sabine A, Schene, Imre F, Kok, Gautam, Jansen, Jurriaan M, Nikkels, Peter G J, van Gassen, Koen L I, Terheggen-Lagro, Suzanne W J, van der Crabben, Saskia N, Hoeks, Sanne E, Niers, Laetitia E M, Wolf, Nicole I, de Vries, Maaike C, Koolen, David A, Houwen, Roderick H J, Mulder, Margot F, van Hasselt, Peter M
Published in Genetics in medicine (01.02.2019)
Published in Genetics in medicine (01.02.2019)
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Journal Article
How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
Wortmann, Saskia B., Oud, Machteld M., Alders, Mariëlle, Coene, Karlien L. M., Crabben, Saskia N., Feichtinger, René G., Garanto, Alejandro, Hoischen, Alex, Langeveld, Mirjam, Lefeber, Dirk, Mayr, Johannes A., Ockeloen, Charlotte W., Prokisch, Holger, Rodenburg, Richard, Waterham, Hans R., Wevers, Ron A., Warrenburg, Bart P. C., Willemsen, Michel A. A. P., Wolf, Nicole I., Vissers, Lisenka E. L. M., Karnebeek, Clara D. M.
Published in Journal of inherited metabolic disease (01.07.2022)
Published in Journal of inherited metabolic disease (01.07.2022)
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Journal Article
Hyperglycemia enhances coagulation and reduces neutrophil degranulation, whereas hyperinsulinemia inhibits fibrinolysis during human endotoxemia
Stegenga, Michiel E., van der Crabben, Saskia N., Blümer, Regje M.E., Levi, Marcel, Meijers, Joost C.M., Serlie, Mireille J., Tanck, Michael W.T., Sauerwein, Hans P., van der Poll, Tom
Published in Blood (01.07.2008)
Published in Blood (01.07.2008)
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Journal Article
Childhood onset nexilin dilated cardiomyopathy: A heterozygous and a homozygous case
Bruyndonckx, Luc, Vogelzang, Judith L., Bugiani, Marianna, Straver, Bart, Kuipers, Irene M., Onland, Wes, Nannenberg, Eline A., Clur, Sally‐Ann, Crabben, Saskia N.
Published in American journal of medical genetics. Part A (01.08.2021)
Published in American journal of medical genetics. Part A (01.08.2021)
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Journal Article
Sparse production but preferential incorporation of recently produced naïve T cells in the human peripheral pool
Vrisekoop, Nienke, den Braber, Ineke, de Boer, Anne Bregje, Ruiter, An F.C, Ackermans, Mariëtte T, van der Crabben, Saskia N, Schrijver, Elise H.R, Spierenburg, Gerrit, Sauerwein, Hans P, Hazenberg, Mette D, de Boer, Rob J, Miedema, Frank, Borghans, José A.M, Tesselaar, Kiki
Published in Proceedings of the National Academy of Sciences - PNAS (22.04.2008)
Published in Proceedings of the National Academy of Sciences - PNAS (22.04.2008)
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Journal Article
Extreme phenotypic variability of a novel GLI2 mutation in a large family with panhypopituitarism and polydactyly: clinical implications
Kremer Hovinga, Idske C.L., Giltay, Jacques C., Crabben, Saskia N., Steyls, Anja, Kamp, Hetty J., Paulussen, Aimee D.C.
Published in Clinical endocrinology (Oxford) (01.09.2018)
Published in Clinical endocrinology (Oxford) (01.09.2018)
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Journal Article
New insights in phenotype and treatment of lung disease immuno-deficiency and chromosome breakage syndrome (LICS)
Willemse, Brigitte W M, van der Crabben, Saskia N, Kerstjens-Frederikse, Wilhelmina S, Timens, Wim, van Montfrans, Joris M, Lindemans, Caroline A, Boelens, Jaap Jan, Hennus, Marije P, van Haaften, Gijs
Published in Orphanet journal of rare diseases (19.03.2021)
Published in Orphanet journal of rare diseases (19.03.2021)
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Journal Article
Correction: Aminoacyl-tRNA synthetase deficiencies in search of common themes
Fuchs, Sabine A., Schene, Imre F., Kok, Gautam, Jansen, Jurriaan M., Nikkels, Peter G.J., van Gassen, Koen L.I., Terheggen-Lagro, Suzanne W.J., van der Crabben, Saskia N., Hoeks, Sanne E., Niers, Laetitia E.M., Wolf, Nicole I., de Vries, Maaike C., Koolen, David A., Houwen, Roderick H.J., Mulder, Margot F., van Hasselt, Peter M.
Published in Genetics in medicine (01.10.2021)
Published in Genetics in medicine (01.10.2021)
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Journal Article
Adult GAMT deficiency: A literature review and report of two siblings
Modi, Bhavi P., Khan, Haq Nawaz, van der Lee, Robin, Wasim, Muhammad, Haaxma, Charlotte A., Richmond, Phillip A., Drögemöller, Britt, Shah, Suleman, Salomons, Gajja, van der Kloet, Frans M., Vaz, Fred M., van der Crabben, Saskia N., Ross, Colin J., Wasserman, Wyeth W., van Karnebeek, Clara D.M., Awan, Fazli Rabbi
Published in Molecular genetics and metabolism reports (01.06.2021)
Published in Molecular genetics and metabolism reports (01.06.2021)
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Journal Article
Early Endotoxemia Increases Peripheral and Hepatic Insulin Sensitivity in Healthy Humans
van der Crabben, Saskia N, Blümer, Regje M. E, Stegenga, Michiel E, Ackermans, Mariëtte T, Endert, Erik, Tanck, Michael W. T, Serlie, Mireille J, van der Poll, Tom, Sauerwein, Hans P
Published in The journal of clinical endocrinology and metabolism (01.02.2009)
Published in The journal of clinical endocrinology and metabolism (01.02.2009)
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Journal Article
The Sports Cardiology Team: Personalizing Athlete Care Through a Comprehensive, Multidisciplinary Approach
van Hattum, Juliette C., Verwijs, Sjoerd M., Senden, P. Jeff, Spies, Jessica L., Boekholdt, S. Matthijs, Groenink, Maarten, Panhuyzen-Goedkoop, Nicole M., Willems, Albert R., Knobbe, Ingmar, Blom, Nicolaas A., Wijne, Cornelis A.C.M., Reurink, Gustaaf, van der Crabben, Saskia N., Bijsterveld, Nick R., Verhagen, Evert A.L.M., Pinto, Yigal M., Wilde, Arthur A.M., Jørstad, Harald T.
Published in Mayo Clinic proceedings. Innovations, quality & outcomes (01.12.2022)
Published in Mayo Clinic proceedings. Innovations, quality & outcomes (01.12.2022)
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Journal Article
Editorial commentary: Towards gene based recommendations in cardiomyopathy
van der Crabben, Saskia N., Postma, Alex V., Houweling, Arjan C.
Published in Trends in cardiovascular medicine (19.07.2024)
Published in Trends in cardiovascular medicine (19.07.2024)
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Journal Article
Are disease-specific patient-reported outcomes measures (PROMs) used in cardiogenetics? A systematic review
van Pottelberghe, Saar, Kupper, Nina, Scheirlynck, Esther, Amin, Ahmad S, Wilde, Arthur A M, Hofman, Nynke, Callus, Edward, Biller, Ruth, Nekkebroeck, Julie, Van Dooren, Sonia, Hes, Frederik J, van der Crabben, Saskia N
Published in European journal of human genetics : EJHG (01.06.2024)
Published in European journal of human genetics : EJHG (01.06.2024)
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Journal Article
Patients with (familial) atrial fibrillation: take off the sweater
Bochem, Andrea, Boersma, Lucas V. A., van der Crabben, Saskia N.
Published in Netherlands heart journal (01.09.2024)
Published in Netherlands heart journal (01.09.2024)
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Journal Article
Patients with (familial) atrial fibrillation: take off the sweater
Bochem, Andrea, Boersma, Lucas V. A., van der Crabben, Saskia N.
Published in Netherlands heart journal (01.09.2024)
Published in Netherlands heart journal (01.09.2024)
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Journal Article