Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26
Kishita, Yoshihito, Pajak, Aleksandra, Bolar, Nikhita Ajit, Marobbio, Carlo M.T., Maffezzini, Camilla, Miniero, Daniela V., Monné, Magnus, Kohda, Masakazu, Stranneheim, Henrik, Murayama, Kei, Naess, Karin, Lesko, Nicole, Bruhn, Helene, Mourier, Arnaud, Wibom, Rolf, Nennesmo, Inger, Jespers, Ann, Govaert, Paul, Ohtake, Akira, Van Laer, Lut, Loeys, Bart L., Freyer, Christoph, Palmieri, Ferdinando, Wredenberg, Anna, Okazaki, Yasushi, Wedell, Anna
Published in American journal of human genetics (05.11.2015)
Published in American journal of human genetics (05.11.2015)
Get full text
Journal Article
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy
Ajit Bolar, Nikhita, Vanlander, Arnaud Vincent, Wilbrecht, Claudia, Van der Aa, Nathalie, Smet, Joél, De Paepe, Boel, Vandeweyer, Geert, Kooy, Frank, Eyskens, François, De Latter, Elien, Delanghe, Gwenda, Govaert, Paul, Leroy, Jules Gerard, Loeys, Bart, Lill, Roland, Van Laer, Lut, Van Coster, Rudy
Published in Human molecular genetics (01.07.2013)
Published in Human molecular genetics (01.07.2013)
Get full text
Journal Article
Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy
Ostergaard, Pia, Simpson, Michael A., Mendola, Antonella, Vasudevan, Pradeep, Connell, Fiona C., van Impel, Andreas, Moore, Anthony T., Loeys, Bart L., Ghalamkarpour, Arash, Onoufriadis, Alexandros, Martinez-Corral, Ines, Devery, Sophie, Leroy, Jules G., van Laer, Lut, Singer, Amihood, Bialer, Martin G., McEntagart, Meriel, Quarrell, Oliver, Brice, Glen, Trembath, Richard C., Schulte-Merker, Stefan, Makinen, Taija, Vikkula, Miikka, Mortimer, Peter S., Mansour, Sahar, Jeffery, Steve
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
Get full text
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)
Get full text
Journal Article
Aggressive Cardiovascular Phenotype of Aneurysms-Osteoarthritis Syndrome Caused by Pathogenic SMAD3 Variants
van der Linde, Denise, MSc, van de Laar, Ingrid M.B.H., MD, Bertoli-Avella, Aida M., MD, PhD, Oldenburg, Rogier A., MD, PhD, Bekkers, Jos A., MD, Mattace-Raso, Francesco U.S., MD, PhD, van den Meiracker, Anton H., MD, PhD, Moelker, Adriaan, MD, PhD, van Kooten, Fop, MD, PhD, Frohn-Mulder, Ingrid M.E., MD, Timmermans, Janneke, MD, Moltzer, Els, PhD, Cobben, Jan M., MD, PhD, van Laer, Lut, PhD, Loeys, Bart, MD, PhD, De Backer, Julie, MD, PhD, Coucke, Paul J., PhD, De Paepe, Anne, MD, PhD, Hilhorst-Hofstee, Yvonne, MD, Wessels, Marja W., MD, PhD, Roos-Hesselink, Jolien W., MD, PhD
Published in Journal of the American College of Cardiology (31.07.2012)
Published in Journal of the American College of Cardiology (31.07.2012)
Get full text
Journal Article
Hearing disability measured by the speech, spatial, and qualities of hearing scale in clinically normal-hearing and hearing-impaired middle-aged persons, and disability screening by means of a reduced SSQ (the SSQ5)
Demeester, Kelly, Topsakal, Vedat, Hendrickx, Jan-Jaap, Fransen, Erik, van Laer, Lut, Van Camp, Guy, Van de Heyning, Paul, van Wieringen, Astrid
Published in Ear and hearing (01.09.2012)
Published in Ear and hearing (01.09.2012)
Get more information
Journal Article
Vitamin K does not prevent soft tissue mineralization in a mouse model of pseudoxanthoma elasticum
Brampton, Christopher, Yamaguchi, Yukiko, Vanakker, Olivier, Van Laer, Lut, Chen, Li-Hsieh, Thakore, Manoj, De Paepe, Anne, Pomozi, Viola, Szabó, Pál T., Martin, Ludovic, Váradi, András, Le Saux, Olivier
Published in Cell cycle (Georgetown, Tex.) (01.06.2011)
Published in Cell cycle (Georgetown, Tex.) (01.06.2011)
Get full text
Journal Article
Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery
Verstraeten, Aline, Alaerts, Maaike, Van Laer, Lut, Loeys, Bart
Published in Human mutation (01.06.2016)
Published in Human mutation (01.06.2016)
Get full text
Journal Article
Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection
Renard, Marjolijn, Francis, Catherine, Ghosh, Rajarshi, Scott, Alan F., Witmer, P. Dane, Adès, Lesley C., Andelfinger, Gregor U., Arnaud, Pauline, Boileau, Catherine, Callewaert, Bert L., Guo, Dongchuan, Hanna, Nadine, Lindsay, Mark E., Morisaki, Hiroko, Morisaki, Takayuki, Pachter, Nicholas, Robert, Leema, Van Laer, Lut, Dietz, Harry C., Loeys, Bart L., Milewicz, Dianna M., De Backer, Julie
Published in Journal of the American College of Cardiology (07.08.2018)
Published in Journal of the American College of Cardiology (07.08.2018)
Get full text
Journal Article
The influence of genetic variation in oxidative stress genes on human noise susceptibility
Carlsson, Per-Inge, Laer, Lut Van, Borg, Erik, Bondeson, Marie-Louise, Thys, Melissa, Fransen, Erik, Camp, Guy Van
Published in Hearing research (01.04.2005)
Published in Hearing research (01.04.2005)
Get full text
Journal Article
A mutation update on the LDS‐associated genes TGFB2/3 and SMAD2/3
Schepers, Dorien, Tortora, Giada, Morisaki, Hiroko, MacCarrick, Gretchen, Lindsay, Mark, Liang, David, Mehta, Sarju G., Hague, Jennifer, Verhagen, Judith, de Laar, Ingrid, Wessels, Marja, Detisch, Yvonne, Haelst, Mieke, Baas, Annette, Lichtenbelt, Klaske, Braun, Kees, der Linde, Denise, Roos‐Hesselink, Jolien, McGillivray, George, Meester, Josephina, Maystadt, Isabelle, Coucke, Paul, El‐Khoury, Elie, Parkash, Sandhya, Diness, Birgitte, Risom, Lotte, Scurr, Ingrid, Hilhorst‐Hofstee, Yvonne, Morisaki, Takayuki, Richer, Julie, Désir, Julie, Kempers, Marlies, Rideout, Andrea L., Horne, Gabrielle, Bennett, Chris, Rahikkala, Elisa, Vandeweyer, Geert, Alaerts, Maaike, Verstraeten, Aline, Dietz, Hal, Laer, Lut, Loeys, Bart
Published in Human mutation (01.05.2018)
Published in Human mutation (01.05.2018)
Get full text
Journal Article
Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections
Ogunjimi, Benson, Zhang, Shen-Ying, Sørensen, Katrine B, Skipper, Kristian A, Carter-Timofte, Madalina, Kerner, Gaspard, Luecke, Stefanie, Prabakaran, Thaneas, Cai, Yujia, Meester, Josephina, Bartholomeus, Esther, Bolar, Nikhita Ajit, Vandeweyer, Geert, Claes, Charlotte, Sillis, Yasmine, Lorenzo, Lazaro, Fiorenza, Raffaele A, Boucherit, Soraya, Dielman, Charlotte, Heynderickx, Steven, Elias, George, Kurotova, Andrea, Auwera, Ann Vander, Verstraete, Lieve, Lagae, Lieven, Verhelst, Helene, Jansen, Anna, Ramet, Jose, Suls, Arvid, Smits, Evelien, Ceulemans, Berten, Van Laer, Lut, Plat Wilson, Genevieve, Kreth, Jonas, Picard, Capucine, Von Bernuth, Horst, Fluss, Joël, Chabrier, Stephane, Abel, Laurent, Mortier, Geert, Fribourg, Sebastien, Mikkelsen, Jacob Giehm, Casanova, Jean-Laurent, Paludan, Søren R, Mogensen, Trine H
Published in The Journal of clinical investigation (01.09.2017)
Published in The Journal of clinical investigation (01.09.2017)
Get full text
Journal Article
ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm
Gould, Russell A., Aziz, Hamza, Woods, Courtney E., Seman-Senderos, Manuel Alejandro, Sparks, Elizabeth, Preuss, Christoph, Wünnemann, Florian, Bedja, Djahida, Moats, Cassandra R., McClymont, Sarah A., Rose, Rebecca, Sobreira, Nara, Ling, Hua, MacCarrick, Gretchen, Kumar, Ajay Anand, Luyckx, Ilse, Cannaerts, Elyssa, Verstraeten, Aline, Björk, Hanna M., Lehsau, Ann-Cathrin, Jaskula-Ranga, Vinod, Lauridsen, Henrik, Shah, Asad A., Bennett, Christopher L., Ellinor, Patrick T., Lin, Honghuang, Isselbacher, Eric M., Lino Cardenas, Christian Lacks, Butcher, Jonathan T., Hughes, G. Chad, Lindsay, Mark E., Mertens, Luc, Franco-Cereceda, Anders, Verhagen, Judith M. A., Wessels, Marja, Mohamed, Salah A., Eriksson, Per, Mital, Seema, Van Laer, Lut, Loeys, Bart L., Andelfinger, Gregor, McCallion, Andrew S., Dietz, Harry C.
Published in Nature genetics (01.01.2019)
Published in Nature genetics (01.01.2019)
Get full text
Journal Article
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia
Bolar, Nikhita Ajit, Golzio, Christelle, Živná, Martina, Hayot, Gaëlle, Van Hemelrijk, Christine, Schepers, Dorien, Vandeweyer, Geert, Hoischen, Alexander, Huyghe, Jeroen R., Raes, Ann, Matthys, Erve, Sys, Emiel, Azou, Myriam, Gubler, Marie-Claire, Praet, Marleen, Van Camp, Guy, McFadden, Kelsey, Pediaditakis, Igor, Přistoupilová, Anna, Hodaňová, Kateřina, Vyleťal, Petr, Hartmannová, Hana, Stránecký, Viktor, Hůlková, Helena, Barešová, Veronika, Jedličková, Ivana, Sovová, Jana, Hnízda, Aleš, Kidd, Kendrah, Bleyer, Anthony J., Spong, Richard S., Vande Walle, Johan, Mortier, Geert, Brunner, Han, Van Laer, Lut, Kmoch, Stanislav, Katsanis, Nicholas, Loeys, Bart L.
Published in American journal of human genetics (07.07.2016)
Published in American journal of human genetics (07.07.2016)
Get full text
Journal Article
Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm
Lindsay, Mark E, Schepers, Dorien, Bolar, Nikhita Ajit, Doyle, Jefferson J, Gallo, Elena, Fert-Bober, Justyna, Kempers, Marlies J E, Fishman, Elliot K, Chen, Yichun, Myers, Loretha, Bjeda, Djahita, Oswald, Gretchen, Elias, Abdallah F, Levy, Howard P, Anderlid, Britt-Marie, Yang, Margaret H, Bongers, Ernie M H F, Timmermans, Janneke, Braverman, Alan C, Canham, Natalie, Mortier, Geert R, Brunner, Han G, Byers, Peter H, Van Eyk, Jennifer, Van Laer, Lut, Dietz, Harry C, Loeys, Bart L
Published in Nature genetics (01.08.2012)
Published in Nature genetics (01.08.2012)
Get full text
Journal Article
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis
Luyckx, Ilse, Walton, Isaac Scott, Boeckx, Nele, Van Schil, Kristof, Pang, Chingyiu, De Praeter, Mania, Lord, Helen, Watson, Christopher Mark, Bonthron, David T, Van Laer, Lut, Wilkie, Andrew O M, Loeys, Bart
Published in Journal of medical genetics (30.01.2024)
Published in Journal of medical genetics (30.01.2024)
Get full text
Journal Article
Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature
Balasubramanian, Meena, Verschueren, Aline, Kleevens, Simon, Luyckx, Ilse, Perik, Melanie, Schirwani, Schaida, Mortier, Geert, Morisaki, Hiroko, Rodrigus, Inez, Van Laer, Lut, Verstraeten, Aline, Loeys, Bart
Published in Bone (New York, N.Y.) (01.04.2019)
Published in Bone (New York, N.Y.) (01.04.2019)
Get full text
Journal Article
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)
Get full text
Journal Article