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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Journal Article
Variable clinical expression of a Belgian TGFB3 founder variant suggests the presence of a genetic modifier
Perik, Melanie H. A. M., Govaerts, Emmanuela, Laga, Steven, Goovaerts, Inge, Saenen, Johan, Van Craenenbroeck, Emeline, Meester, Josephina A. N., Luyckx, Ilse, Rodrigus, Inez, Verstraeten, Aline, Van Laer, Lut, Loeys, Bart L.
Published in Frontiers in genetics (31.08.2023)
Published in Frontiers in genetics (31.08.2023)
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Journal Article
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome
Meester, Josephina A.N., Southgate, Laura, Stittrich, Anna-Barbara, Venselaar, Hanka, Beekmans, Sander J.A., den Hollander, Nicolette, Bijlsma, Emilia K., Helderman-van den Enden, Appolonia, Verheij, Joke B.G.M., Glusman, Gustavo, Roach, Jared C., Lehman, Anna, Patel, Millan S., de Vries, Bert B.A., Ruivenkamp, Claudia, Itin, Peter, Prescott, Katrina, Clarke, Sheila, Trembath, Richard, Zenker, Martin, Sukalo, Maja, Van Laer, Lut, Loeys, Bart, Wuyts, Wim
Published in American journal of human genetics (03.09.2015)
Published in American journal of human genetics (03.09.2015)
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Journal Article
The role of biglycan in the healthy and thoracic aneurysmal aorta
Meester, Josephina A N, De Kinderen, Pauline, Verstraeten, Aline, Loeys, Bart L
Published in American Journal of Physiology: Cell Physiology (01.06.2022)
Published in American Journal of Physiology: Cell Physiology (01.06.2022)
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Journal Article
Biglycan in the Skeleton
Kram, Vardit, Shainer, Reut, Jani, Priyam, Meester, Josephina A.N., Loeys, Bart, Young, Marian F.
Published in Journal of Histochemistry & Cytochemistry (01.11.2020)
Published in Journal of Histochemistry & Cytochemistry (01.11.2020)
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Book Review
Journal Article
Structural genomic variants in thoracic aortic disease
Meester, Josephina A N, Hebert, Anne, Loeys, Bart L
Published in Current opinion in cardiology (01.05.2023)
Published in Current opinion in cardiology (01.05.2023)
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Journal Article
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections
Meester, Josephina A.N., Vandeweyer, Geert, Pintelon, Isabel, Lammens, Martin, Van Hoorick, Lana, De Belder, Simon, Waitzman, Kathryn, Young, Luciana, Markham, Larry W., Vogt, Julie, Richer, Julie, Beauchesne, Luc M., Unger, Sheila, Superti-Furga, Andrea, Prsa, Milan, Dhillon, Rami, Reyniers, Edwin, Dietz, Harry C., Wuyts, Wim, Mortier, Geert, Verstraeten, Aline, Van Laer, Lut, Loeys, Bart L.
Published in Genetics in medicine (01.04.2017)
Published in Genetics in medicine (01.04.2017)
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Journal Article
Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort
Meester, Josephina A.N., Peeters, Silke, Van Den Heuvel, Lotte, Vandeweyer, Geert, Fransen, Erik, Cappella, Elizabeth, Dietz, Harry C., Forbus, Geoffrey, Gelb, Bruce D., Goldmuntz, Elizabeth, Hoskoppal, Arvind, Landstrom, Andrew P., Lee, Teresa, Mital, Seema, Morris, Shaine, Olson, Aaron K., Renard, Marjolijn, Roden, Dan M., Singh, Michael N., Selamet Tierney, Elif Seda, Tretter, Justin T., Van Driest, Sara L., Willing, Marcia, Verstraeten, Aline, Van Laer, Lut, Lacro, Ronald V., Loeys, Bart L.
Published in Genetics in medicine (01.05.2022)
Published in Genetics in medicine (01.05.2022)
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Journal Article
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants
Rodrigues Bento, Jotte, Krebsová, Alice, Van Gucht, Ilse, Valdivia Callejon, Irene, Van Berendoncks, An, Votypka, Pavel, Luyckx, Ilse, Peldova, Petra, Laga, Steven, Havelka, Marek, Van Laer, Lut, Trunecka, Pavel, Boeckx, Nele, Verstraeten, Aline, Macek, Milan, Meester, Josephina A. N., Loeys, Bart
Published in Human mutation (01.12.2022)
Published in Human mutation (01.12.2022)
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Journal Article
Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort
Meester, Josephina A.N., Sukalo, Maja, Schröder, Kim C., Schanze, Denny, Baynam, Gareth, Borck, Guntram, Bramswig, Nuria C., Duman, Duygu, Gilbert‐Dussardier, Brigitte, Holder‐Espinasse, Muriel, Itin, Peter, Johnson, Diana S., Joss, Shelagh, Koillinen, Hannele, McKenzie, Fiona, Morton, Jenny, Nelle, Heike, Reardon, Willie, Roll, Claudia, Salih, Mustafa A., Savarirayan, Ravi, Scurr, Ingrid, Splitt, Miranda, Thompson, Elizabeth, Titheradge, Hannah, Travers, Colm P., Maldergem, Lionel, Whiteford, Margo, Wieczorek, Dagmar, Vandeweyer, Geert, Trembath, Richard, Laer, Lut, Loeys, Bart L., Zenker, Martin, Southgate, Laura, Wuyts, Wim
Published in Human mutation (01.09.2018)
Published in Human mutation (01.09.2018)
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Journal Article
Generation of an induced pluripotent stem cell (iPSC) line (BBANTWi009-A) from a Meester-Loeys syndrome patient carrying a BGN mutation
De Kinderen, Pauline, Rabaut, Laura, Hebert, Anne, Ponsaerts, Peter, Perik, Melanie, Meester, Josephina A.N.
Published in Stem cell research (01.02.2023)
Published in Stem cell research (01.02.2023)
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Journal Article
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8
Van Gucht, Ilse, Meester, Josephina A.N., Bento, Jotte Rodrigues, Bastiaansen, Maaike, Bastianen, Jarl, Luyckx, Ilse, Van Den Heuvel, Lotte, Neutel, Cédric H.G., Guns, Pieter-Jan, Vermont, Mandy, Fransen, Erik, Perik, Melanie H.A.M., Velchev, Joe Davis, Alaerts, Maaike, Schepers, Dorien, Peeters, Silke, Pintelon, Isabel, Almesned, Abdulrahman, Ferla, Matteo P., Taylor, Jenny C., Dallosso, Anthony R., Williams, Maggie, Evans, Julie, Rosenfeld, Jill A., Sluysmans, Thierry, Rodrigues, Desiderio, Chikermane, Ashish, Bharmappanavara, Gangadhara, Vijayakumar, Kayal, Mottaghi Moghaddam Shahri, Hassan, Hashemi, Narges, Torbati, Paria Najarzadeh, Toosi, Mehran B., Al-Hassnan, Zuhair N., Vogt, Julie, Revencu, Nicole, Maystadt, Isabelle, Miller, Erin M., Weaver, K. Nicole, Begtrup, Amber, Houlden, Henry, Murphy, David, Maroofian, Reza, Pagnamenta, Alistair T., Van Laer, Lut, Loeys, Bart L., Verstraeten, Aline
Published in American journal of human genetics (03.06.2021)
Published in American journal of human genetics (03.06.2021)
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Journal Article
IPSC reprogramming of two patients with spondyloepiphyseal dysplasia congenita (SEDC)
De Kinderen, Pauline, Rabaut, Laura, Perik, Melanie H.A.M., Peeters, Silke, Ponsaerts, Peter, Loeys, Bart, Mortier, Geert, Meester, Josephina A.N., Verstraeten, Aline
Published in Stem cell research (01.06.2023)
Published in Stem cell research (01.06.2023)
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Journal Article
Variants in ADRB1 and CYP2C9: Association with Response to Atenolol and Losartan in Marfan Syndrome
Van Driest, Sara L., Sleeper, Lynn A., Gelb, Bruce D., Morris, Shaine A., Dietz, Harry C., Forbus, Geoffrey A., Goldmuntz, Elizabeth, Hoskoppal, Arvind, James, Jeanne, Lee, Teresa M., Levine, Jami C., Li, Jennifer S., Loeys, Bart L., Markham, Larry W., Meester, Josephina A.N., Mital, Seema, Mosley, Jonathan D., Olson, Aaron K., Renard, Marjolijn, Shaffer, Christian M., Sharkey, Angela, Young, Luciana, Lacro, Ronald V., Roden, Dan M.
Published in The Journal of pediatrics (01.07.2020)
Published in The Journal of pediatrics (01.07.2020)
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Journal Article
IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type)
De Kinderen, Pauline, Peeters, Silke, Rabaut, Laura, Mortier, Geert, Ponsaerts, Peter, Loeys, Bart, Verstraeten, Aline, Meester, Josephina A.N.
Published in Stem cell research (01.03.2023)
Published in Stem cell research (01.03.2023)
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Journal Article
A generated induced pluripotent stem cell (iPSC) line (CMGANTi005-A) of a Marfan syndrome patient with an FBN1 c.7754T > C (p.Ile2585Thr) variation
Van Den Heuvel, Lotte J.F., Peeters, Silke, Meester, Josephina A.N., Perik, Melanie, Coucke, Paul, Loeys, Bart L.
Published in Stem cell research (01.03.2023)
Published in Stem cell research (01.03.2023)
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Journal Article
Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder
Meuwissen, Marije, Verstraeten, Aline, Ranza, Emmanuelle, Iwaszkiewicz, Justyna, Bastiaansen, Maaike, Mateiu, Ligia, Nemegeer, Merlijn, Meester, Josephina A.N., Afenjar, Alexandra, Amaral, Michelle, Ballhausen, Diana, Barnett, Sarah, Barth, Magalie, Asselbergh, Bob, Spaas, Katrien, Heeman, Bavo, Bassetti, Jennifer, Blackburn, Patrick, Schaer, Marie, Blanc, Xavier, Zoete, Vincent, Casas, Kari, Courtin, Thomas, Doummar, Diane, Guerry, Frédéric, Keren, Boris, Pappas, John, Rabin, Rachel, Begtrup, Amber, Shinawi, Marwan, Vulto-van Silfhout, Anneke T., Kleefstra, Tjitske, Wagner, Matias, Ziegler, Alban, Schaefer, Elise, Gerard, Benedicte, De Bie, Charlotte I., Holwerda, Sjoerd J.B., Abbot, Mary Alice, Antonarakis, Stylianos E., Loeys, Bart
Published in Genetics in medicine (01.07.2022)
Published in Genetics in medicine (01.07.2022)
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Journal Article