Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes
Proost, Dorien, Vandeweyer, Geert, Meester, Josephina A.N., Salemink, Simone, Kempers, Marlies, Ingram, Christie, Peeters, Nils, Saenen, Johan, Vrints, Christiaan, Lacro, Ronald V., Roden, Dan, Wuyts, Wim, Dietz, Harry C., Mortier, Geert, Loeys, Bart L., Van Laer, Lut
Published in Human mutation (01.08.2015)
Published in Human mutation (01.08.2015)
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A Dominant-Negative GFI1B Mutation in the Gray Platelet Syndrome
Monteferrario, Davide, Bolar, Nikhita A, Marneth, Anna E, Hebeda, Konnie M, Bergevoet, Saskia M, Veenstra, Hans, Laros-van Gorkom, Britta A.P, MacKenzie, Marius A, Khandanpour, Cyrus, Botezatu, Lacramiora, Fransen, Erik, Van Camp, Guy, Duijnhouwer, Anthonie L, Salemink, Simone, Willemsen, Brigith, Huls, Gerwin, Preijers, Frank, Van Heerde, Waander, Jansen, Joop H, Kempers, Marlies J.E, Loeys, Bart L, Van Laer, Lut, Van der Reijden, Bert A
Published in The New England journal of medicine (16.01.2014)
Published in The New England journal of medicine (16.01.2014)
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Journal Article
Improving calculation, interpretation and communication of familial colorectal cancer risk: protocol for a randomized controlled trial
Dekker, Nicky, Hermens, Rosella P M G, Elwyn, Glyn, van der Weijden, Trudy, Nagengast, Fokko M, van Duijvendijk, Peter, Salemink, Simone, Adang, Eddy, van Krieken, J Han J M, Ligtenberg, Marjolijn J L, Hoogerbrugge, Nicoline
Published in Implementation science : IS (28.01.2010)
Published in Implementation science : IS (28.01.2010)
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Journal Article
Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor
Gillis, Elisabeth, Kumar, Ajay A, Luyckx, Ilse, Preuss, Christoph, Cannaerts, Elyssa, van de Beek, Gerarda, Wieschendorf, Björn, Alaerts, Maaike, Bolar, Nikhita, Vandeweyer, Geert, Meester, Josephina, Wünnemann, Florian, Gould, Russell A, Zhurayev, Rustam, Zerbino, Dmytro, Mohamed, Salah A, Mital, Seema, Mertens, Luc, Björck, Hanna M, Franco-Cereceda, Anders, McCallion, Andrew S, Van Laer, Lut, Verhagen, Judith M A, van de Laar, Ingrid M B H, Wessels, Marja W, Messas, Emmanuel, Goudot, Guillaume, Nemcikova, Michaela, Krebsova, Alice, Kempers, Marlies, Salemink, Simone, Duijnhouwer, Toon, Jeunemaitre, Xavier, Albuisson, Juliette, Eriksson, Per, Andelfinger, Gregor, Dietz, Harry C, Verstraeten, Aline, Loeys, Bart L
Published in Frontiers in physiology (13.06.2017)
Published in Frontiers in physiology (13.06.2017)
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Journal Article
Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene
Luyckx, Ilse, Kumar, Ajay A, Reyniers, Edwin, Dekeyser, Emily, Vanderstraeten, Kathleen, Vandeweyer, Geert, Wünnemann, Florian, Preuss, Christoph, Mazzella, Jean-Michaël, Goudot, Guillaume, Messas, Emmanuel, Albuisson, Juliette, Jeunemaitre, Xavier, Eriksson, Per, Mohamed, Salah A, Kempers, Marlies, Salemink, Simone, Duijnhouwer, Anthonie, Andelfinger, Gregor, Dietz, Harry C, Verstraeten, Aline, Van Laer, Lut, Loeys, Bart L
Published in European journal of human genetics : EJHG (01.07.2019)
Published in European journal of human genetics : EJHG (01.07.2019)
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Journal Article
An FBN1 Deep Intronic Mutation in a Familial Case of Marfan Syndrome: An Explanation for Genetically Unsolved Cases?
Gillis, Elisabeth, Kempers, Marlies, Salemink, Simone, Timmermans, Janneke, Cheriex, Emile C., Bekkers, Sebastiaan C.A.M., Fransen, Erik, De Die-Smulders, Christine E.M., Loeys, Bart L., Laer, Lut Van
Published in Human mutation (01.05.2014)
Published in Human mutation (01.05.2014)
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Journal Article
Urinary heparanase activity in patients with Type 1 and Type 2 diabetes
ROPS, Angelique L. WM. M, DEN HOVEN, Mabel J. Van, VELDMAN, Bart A, SALEMINK, Simone, VERVOORT, Gerald, ELVING, Lammy D, ATEN, Jan, WETZELS, Jack F, DER VLAG, Johan Van, BERDEN, Jo H. M
Published in Nephrology, dialysis, transplantation (01.07.2012)
Published in Nephrology, dialysis, transplantation (01.07.2012)
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Journal Article
Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor (vol 8, pg 400, 2017)
Gillis, E, Kumar, AA, Luyckx, I, Preuss, C, Cannaerts, E, van, de Beek G, Wieschendorf, B, Alaerts, M, Bolar, N, Vandeweyer, G
Published in FRONTIERS IN PHYSIOLOGY (25.09.2017)
Published in FRONTIERS IN PHYSIOLOGY (25.09.2017)
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Publication
A Dominant-Negative GFI1B Mutation in Gray Platelet Syndrome
Van der Reijden, Bert A., Monteferrario, Davide, Bolar, Nikhita, Marneth, Anna, Hebeda, Konnie, Bergevoet, Saskia, Veenstra, Hans, Gorkum, Britta Laros-van, MacKenzie, Marius, Khandanpour, Cyrus, Botezatu, Lacramioara, Fransen, Erik, Van Camp, Guy, Duijnhouwer, Anthonie, Salemink, Simone, Willemsen, Brigith, Huls, Gerwin, Preijers, Franks, van Heerde, Waander L., Jansen, Joop H., Kempers, Marlies, Loeys, Bart, Van Laer, Lut
Published in Blood (15.11.2013)
Published in Blood (15.11.2013)
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Journal Article
Corrigendum: Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor
Gillis, Elisabeth, Kumar, Ajay A, Luyckx, Ilse, Preuss, Christoph, Cannaerts, Elyssa, van de Beek, Gerarda, Wieschendorf, Björn, Alaerts, Maaike, Bolar, Nikhita, Vandeweyer, Geert, Meester, Josephina, Wünnemann, Florian, Gould, Russell A, Zhurayev, Rustam, Zerbino, Dmytro, Mohamed, Salah A, Mital, Seema, Mertens, Luc, Björck, Hanna M, Franco-Cereceda, Anders, McCallion, Andrew S, Van Laer, Lut, Verhagen, Judith M A, van de Laar, Ingrid M B H, Wessels, Marja W, Messas, Emmanuel, Goudot, Guillaume, Nemcikova, Michaela, Krebsova, Alice, Kempers, Marlies, Salemink, Simone, Duijnhouwer, Toon, Jeunemaitre, Xavier, Albuisson, Juliette, Eriksson, Per, Andelfinger, Gregor, Dietz, Harry C, Verstraeten, Aline, Loeys, Bart L
Published in Frontiers in physiology (2017)
Published in Frontiers in physiology (2017)
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Journal Article
Focusing on Patient Needs and Preferences May Improve Genetic Counseling for Colorectal Cancer
Salemink, Simone, Dekker, Nicky, Kets, Carolien M., van der Looij, Erica, van Zelst-Stams, Wendy A. G., Hoogerbrugge, Nicoline
Published in Journal of genetic counseling (01.02.2013)
Published in Journal of genetic counseling (01.02.2013)
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Journal Article