2012

• Faivre, L., Collod-Beroud, G., Adès, L., Arbustini, E., Child, A., Calleweart, B., Loeys, B., Binquet, C., Gautier, E., Mayer, K., Arslan-Kirchner, M., Grasso, M., Beroud, C., Hamroun, D., Bonithon-Kopp, C., Plauchu, H., Robinson, P., De Backer, J., Coucke, P., Francke, U., Bouchot, O., Wolf, J., Stheneur, C., Hanna, N., Detaint, D., De Paepe, A., Boileau, C., Jondeau, G. (2012), The new Ghent criteria for Marfan syndrome: What do they change?. Clinical Genetics. 181(5), 433-442. [Abstract]

2011

• Talkowski, M., Mullegama, S., Rosenfeld, J., van Bon, B., Shen, Y., Repnikova, E., Gastier-Foster, J., Thrush, D., Kathiresan, S., Ruderfer, D., Chiang, C., Hanscom, C., Ernst, C., Lindgren, A., Morton, C., An, Y., Astbury, C., Brueton, L., Lichtenbelt, K., Ades, L., Fichera, M., Romano, C., Innis, J., Williams, C., Bartholomew, D., Van Allen, M., Parikh, A., Zhang, L., Wu, B., Pyatt, R., Schwartz, S., Shaffer, L., de Vries, B., Gusella, J., Elsea, S. (2011), Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. American Journal of Human Genetics. 89(4), 551-563. [Abstract]
• Stheneur, C., Faivre, L., Collod-Béroud, G., Gautier, E., Binquet, C., Bonithon-Kopp, C., Claustres, M., Child, A., Arbustini, E., Adès, L., Francke, U., Mayer, K., Arslan-Kirchner, M., De Paepe, A., Chevallier, B., Bonnet, D., Jondeau, G., Boileau, C. (2011), Prognosis factors in probands with a FBN1 mutation diagnosed before one year. Pediatric research. 69(3), 265-70. [Abstract]

2010

• Milewicz, D., Østergaard, J., Ala-Kokko, L., Khan, N., Grange, D., Mendoza-Londono, R., Bradley, T., Olney, A., Adès, L., Maher, J., Guo, D., Buja, L., Kim, D., Hyland, J., Regalado, E. (2010), De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. American Journal of Medical Genetics. Part A. 152A(10), 2437-2443. [Abstract]
• Détaint, D., Faivre, L., Collod-Beroud, G., Child, A., Loeys, B., Binquet, C., Gautier, E., Arbustini, E., Mayer, K., Arslan-Kirchner, M., Stheneur, C., Halliday, D., Beroud, C., Bonithon-Kopp, C., Claustres, M., Plauchu, H., Robinson, P., Kiotsekoglou, A., De Backer, J., Adès, L., Francke, U., De Paepe, A., Boileau, C., Jondeau, G. (2010), Cardiovascular manifestations in men and women carrying a FBN1 mutation. European Heart Journal. 31(18), 2223-2229. [Abstract]
• Renard, M., Holm, T., Veith, R., Callewaert, B., Adès, L., Baspinar, O., Pickart, A., Dasouki, M., Hoyer, J., Rauch, A., Trapane, P., Earing, M., Coucke, P., Sakai, L., Dietz, H., De Paepe, A., Loeys, B. (2010), Altered TGFbeta signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency. European Journal of Human Genetics. 18(8), 895-901. [Abstract]
• van Bon, B., Koolen, D., Brueton, L., McMullan, D., Lichtenbelt, K., Adès, L., Peters, G., Gibson, K., Moloney, S., Novara, F., Pramparo, T., Dalla Bernardina, B., Zoccante, L., Balottin, U., Piazza, F., Pecile, V., Gasparini, P., Guerci, V., Kets, M., Pfundt, R., de Brouwer, A., Veltman, J., de Leeuw, N., Wilson, M., Antony, J., Reitano, S., Luciano, D., Fichera, M., Romano, C., Brunner, H., Zuffardi, O., de Vries, B. (2010), The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. European Journal of Human Genetics. 18(2), 163-170. [Abstract]

2009

• Aldinger, K., Lehmann, O., Hudgins, L., Chizhikov, V., Bassuk, A., Ades, L., Krantz, I., Dobyns, W., Millen, K. (2009), FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nature Genetics. 41, 1037-U116. [Abstract]
• Faivre, L., Collod-Beroud, G., Callewaert, B., Child, A., Loeys, B., Binquet, C., Gautier, E., Arbustini, E., Mayer, K., Arslan-Kirchner, M., Kiotsekoglou, A., Comeglio, P., Grasso, M., Beroud, C., Bonithon-Kopp, C., Claustres, M., Stheneur, C., Bouchot, O., Wolf, J., Robinson, P., Ades, L., De Backer, J., Coucke, P., Francke, U., De Paepe, A., Boileau, C., Jondeau, G. (2009), Pathogenic FBN1 Mutations in 146 Adults Not Meeting Clinical Diagnostic Criteria for Marfan Syndrome: Further Delineation of Type 1 Fibrillinopathies and Focus on Patients With an Isolated Major Criterion. American Journal of Medical Genetics Part A. 149A, 854-860. [Abstract]
• Faivre, L., Masurel-Paulet, A., Collod-Béroud, G., Callewaert, B., Child, A., Stheneur, C., Binquet, C., Gautier, E., Chevallier, B., Huet, F., Loeys, B., Arbustini, E., Mayer, K., Arslan-Kirchner, M., Kiotsekoglou, A., Comeglio, P., Grasso, M., Halliday, D., Béroud, C., Bonithon-Kopp, C., Claustres, M., Robinson, P., Adès, L., De Backer, J., Coucke, P., Francke, U., De Paepe, A., Boileau, C., Jondeau, G. (2009), Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics. 123(1), 391-398. [Abstract]
• Jenkins, Z., van Kogelenberg, M., Morgan, T., Jeffs, A., Fukuzawa, R., Pearl, E., Thaller, C., Hing, A., Porteous, M., Garcia-Miñaur, S., Bohring, A., Lacombe, D., Stewart, F., Fiskerstrand, T., Bindoff, L., Berland, S., Adès, L., Tchan, M., David, A., Wilson, L., Hennekam, R., Donnai, D., Mansour, S., Cormier-Daire, V., Robertson, S. (2009), Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nature genetics. , 95-100. [Abstract]
• Faivre, L., Collod-Beroud, G., Callewaert, B., Child, A., Binquet, C., Gautier, E., Loeys, B., Arbustini, E., Mayer, K., Arslan-Kirchner, M., Stheneur, C., Kiotsekoglou, A., Comeglio, P., Marziliano, N., Wolf, J., Bouchot, O., Khau-Van-Kien, P., Beroud, C., Claustres, M., Bonithon-Kopp, C., Robinson, P., Ades, L., De Backer, J., Coucke, P., Francke, U., De Paepe, A., Jondeau, G., Boileau, C. (2009), Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation. European Journal of Human Genetics. 17, 491-501. [Abstract]

2008

• Faivre, L., Collod-Beroud, G., Child, A., Callewaert, B., Loeys, B., Binquet, C., Gautier, E., Arbustini, E., Mayer, K., Arslan-Kirchner, M., Stheneur, C., Kiotsekoglou, A., Comeglio, P., Marziliano, N., Halliday, D., Beroud, C., Bonithon-Kopp, C., Claustres, M., Plauchu, H., Robinson, P., Ades, L., De Backer, J., Coucke, P., Francke, U., De Paepe, A., Boileau, C., Jondeau, G. (2008), Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands. Journal of Medical Genetics. 45(6), 384-390. [Abstract]
• Santos, L., Xing, C., Barnes, R., Ades, L., Megarbane, A., Vidal, C., Xuereb, A., Tarpey, P., Smith, R., Khazab, M., Shoubridge, C., Partington, M., Futreal, A., Stratton, M., Gecz, J., Zinn, A. (2008), Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes. Human Genetics. 123(5), 469-476. [Abstract]

2007

• Guo, D., Pannu, H., Tran-Fadulu, V., Papke, C., Yu, R., Avidan, N., Bourgeois, S., Estrera, A., Safi, H., Sparks, E., Amor, D., Ades, L., McConnell, V., Willoughby, C., Abuelo, D., Willing, M., Lewis, R., Kim, D., Scherer, S., Tung, P., Ahn, C., Buja, L., Raman, C., Shete, S., Milewicz, D. (2007), Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nature genetics. 39(12), 1488-93. [Abstract]
• Jatana, V., Gillis, J., Webster, B., Adès, L. (2007), Deletion 22q11.2 syndrome-Implications for the intensive care physician*. Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies. 8(5), 459-463. [Abstract]
• Faivre, L., Collod-Beroud, G., Loeys, B., Child, A., Binquet, C., Gautier, E., Callewaert, B., Arbustini, E., Mayer, K., Arslan-Kirchner, M., Kiotsekoglou, A., Comeglio, P., Marziliano, N., Dietz, H., Halliday, D., Beroud, C., Bonithon-Kopp, C., Claustres, M., Muti, C., Plauchu, H., Robinson, P., Adès, L., Biggin, A., Benetts, B., Brett, M., Holman, K., De Backer, J., Coucke, P., Francke, U., De Paepe, A., Jondeau, G., Boileau, C. (2007), Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. American journal of human genetics. 81(3), 454-66. [Abstract]
• Uyanik, G., Morris-Rosendahl, D., Stiegler, J., Klapecki, J., Gross, C., Berman, Y., Martin, P., Dey, L., Spranger, S., Korenke, G., Schreyer, I., Hertzberg, C., Neumann, T., Burkart, P., Spaich, C., Meng, M., Holthausen, H., Adès, L., Seidel, J., Mangold, E., Buyse, G., Meinecke, P., Schara, U., Zeschnigk, C., Muller, D., Helland, G., Schulze, B., Wright, M., Kortge-Jung, S., Hehr, A., Bogdahn, U., Schuierer, G., Kohlhase, J., Aigner, L., Wolff, G., Hehr, U., Winkler, J. (2007), Location and type of mutation in the LIS1 gene do not predict phenotypic severity. Neurology. 69(5), 442-447. [Abstract]
• Maclean, K., Holme, S., Gilmour, E., Taylor, M., Scheffer, H., Graf, N., Smith, G., Onikul, E., van Bokhoven, H., Moss, C., Adès, L. (2007), EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation?. American journal of medical genetics. Part A. 143(10), 1114-1119. [Abstract]
• Ades, L. (2007), Guidelines for the Diagnosis and Management of Marfan Syndrome. Heart, lung & circulation. 16, 28-30. [Abstract]
• Tay, T., Smith, J., Berman, Y., Adès, L., Missotte, I., Saglibène, H., Martin, F., Mitchell, P., Taylor, D. (2007), Nanophthalmos in a Melanesian population. Clinical & experimental ophthalmology. 35(4), 348-354. [Abstract]