Dr Lesley Ades

Senior Lecturer
Genetic Medicine, Children's Hospital, Westmead

C29 - Children's Hospital Westmead
The University of Sydney
NSW 2006 Australia

T: +61 2 9845 3273
F: 9845 3204
E: Send message

Publications

2013 | 2012 | 2011 | 2010 | 2009 | 2008

2013

   
  • Revencu, N., Boon, L., Mendola, A., Cordisco, M., Dubois, J., Clapuyt, P., Hammer, F., Amor, D., Irvine, A., Baselga, E., Dompmartin, A., Syed, S., Martin-Santiago, A., Ades, L., Collins, F., Smith, J., Sandaradura, S., Barrio, V., Burrows, P., Blei, F., Cozzolino, M., Brunetti-Pierri, N., Vicente, A., Abramowicz, M., Desir, J., Vilain, C., Chung, W., Wilson, A., Gardiner, C., Dwight, Y., Lord, D., Fishman, L., Cytrynbaum, C., Chamlin, S., Ghali, F., Gilaberte, Y., Joss, S., Boente, M., Leaute-Labreze, C., Delrue, M., Bayliss, S., Martorell, L., Gonzalez-Ensenat, M., Mazereeuw-Hautier, J., O'Donnell, B., Bessis, D., Pyeritz, R., Salhi, A., Tan, O., Wargon, O., Mulliken, J., Vikkula, M. (2013), RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. Human Mutation. 34(12), 1632-1641. [Abstract]
  • Alders, M., Mendola, A., Adès, L., Al Gazali, L., Bellini, C., Dallapiccola, B., Edery, P., Frank, U., Hornshuh, F., Huisman, S., Jagadeesh, S., Kayserili, H., Keng, W., Lev, D., Prada, C., Sampson, J., Schmidtke, J., Shashi, V., van Bever, Y., Van der Aa, N., Verhagen, J., Verheij, J., Vikkula, M., Hennekam, R. (2013), Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations. Molecular Syndromology. 4(3), 107-113. [Abstract]

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

   
  • 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., 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]
  • 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., 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]
  • 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]

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]