Dr Lesley Ades

Senior Lecturer
Genetic Medicine, Children's Hospital, Westmead

Telephone +61 2 9845 3273
Fax 9845 3204

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Selected publications

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Journals

  • Basart, H., van de Kar, A., Ades, L., Cho, T., Carter, E., Maas, S., Wilson, L., van der Horst, C., Wade, E., Robertson, S., et al (2015). Frontometaphyseal dysplasia and keloid formation without FLNA mutations. American Journal of Medical Genetics. Part A, 167(6), 1215-1222. [More Information]
  • Murray, J., Bicknell, L., Yigit, G., Duker, A., Van Kogelenberg, M., Haghayegh, S., Wieczorek, D., Kayserili, H., Albert, M., Wise, C., Ades, L., Ma, A., et al (2014). Extreme growth failure is a common presentation of ligase IV deficiency. Human Mutation, 35(1), 76-85. [More Information]
  • Alders, M., Mendola, A., Ades, L., Al-Gazali, L., Bellini, C., Dallapiccola, B., Edery, P., Frank, U., Hornshuh, F., Huisman, S., et al (2013). Evaluation of clinical manifestations in patients with severe lymphedema with and without CCBE1 mutations. Molecular Syndromology, 4(3), 107-113. [More Information]
  • Faivre, L., Collod-Beroud, G., Ades, L., Arbustini, E., Child, A., Callewaert, B., Loeys, B., Binquet, C., Gautier, E., Mayer, K., et al (2012). The new Ghent criteria for Marfan syndrome: What do they change? Clinical Genetics, 81(5), 433-442. [More Information]
  • Talkowski, M., Mullegama, S., Rosenfeld, J., van Bon, B., Shen, Y., Repnikova, E., Gastier-Foster, J., Thrush, D., Kathiresan, S., Ruderfer, D., Ades, L., et al (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, 551-563. [More Information]
  • Stheneur, C., Faivre, L., Collod-Beroud, G., Gautier, E., Binquet, C., Bonithon-Kopp, C., Claustres, M., Child, A., Arbustini, E., Ades, L., et al (2011). Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year. Pediatric Research: international journal of human developmental biology, 69(3), 265-270. [More Information]
  • Renard, M., Holm, T., Veith, R., Callewaert, B., Ades, L., Baspinar, O., Pickart, A., Dasouki, M., Hoyer, J., Rauch, A., et al (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. [More Information]
  • Detaint, D., Faivre, L., Collod-Beroud, G., Child, A., Loeys, B., Binquet, C., Gautier, E., Arbustini, E., Mayer, K., Arslan-Kirchner, M., Ades, L., et al (2010). Cardiovascular manifestations in men and women carrying a FBN1 mutation. European Heart Journal, 31(18), 2223-2229. [More Information]
  • Milewicz, D., Ostergaard, J., Ala-Kokko, L., Khan, N., Grange, D., Mendoza-Londono, R., Bradley, T., Haskins Olney, A., Ades, L., Maher, J., et al (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. [More Information]
  • van Bon, B., Koolen, D., Brueton, L., McMullan, D., Lichtenbelt, K., Ades, L., Peters, G., Gibson, K., Novara, F., Pramparo, T., Wilson, M., et al (2010). The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. European Journal of Human Genetics, 18(2), 163-170. [More Information]
  • Faivre, L., Masurel-Paulet, A., Collod-Beroud, G., Callewaert, B., Child, A., Stheneur, C., Binquet, C., Gautier, E., Chevallier, B., Huet, F., Ades, L., et al (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. [More Information]
  • Faivre, L., Collod-Beroud, G., Callewaert, B., Child, A., Binquet, C., Gautier, E., Loeys, B., Arbustini, E., Mayer, K., Arslan-Kirchner, M., Ades, L., et al (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(4), 491-501. [More Information]
  • 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(9), 1037-U116. [More Information]
  • Jenkins, Z., van Kogelenberg, M., Morgan, T., Jeffs, A., Fukuzawa, R., Pearl, E., Thaller, C., Hing, A., Porteous, M., Ades, L., Tchan, M., et al (2009). Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nature Genetics, 41(1), 95-100. [More Information]
  • Faivre, L., Collod-Beroud, G., Callewaert, B., Child, A., Loeys, B., Binquet, C., Gautier, E., Arbustini, E., Mayer, K., Arslan-Kirchner, M., Ades, L., et al (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 (5), 854-860. [More Information]
  • Faivre, L., Collod-Beroud, G., Child,, A., Callewaert, B., Loeys, B., Binquet, C., Gautier, E., Arbustini, E., Mayer, K., Arslan-Kirchner, M., Ades, L., et al (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. [More Information]
  • Jaeckle Santos, L., Xing, C., Barnes, R., Ades, L., Megarbane, A., Vidal, C., Xuereb, A., Tarpey, P., Smith, R., Khazab, M., et al (2008). Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes. Human Genetics, 123(5), 469-476. [More Information]
  • Jatana, V., Gillis, J., Webster, B., Ades, L. (2007). Deletion 22q11.2 syndrome-Implications for the intensive care physician. Pediatric Critical Care Medicine, 8(5), 459-463. [More Information]
  • Jatana, V., Gillis, J., Webster, B., Ades, L. (2007). Deletion 22q11.2 syndrome-Implications for the intensive care physician. Pediatric Critical Care Medicine, 8(5), 459-463.
  • Maclean, K., Holme, S., Gilmour, E., Taylor, M., Scheffer, H., Smith, G., Onikul, E., van Bokhoven, H., Moss, C., Ades, L., et al (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. [More Information]
  • Faivre, L., Collod-Beroud, G., Loeys, B., Child, A., Binquet, C., Gautier, E., Callewaert, B., Arbustini, E., Mayer, K., Ades, L., et al (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), 454-466. [More Information]
  • Ades, L. (2007). Guidelines for the Diagnosis and Management of Marfan Syndrome. Heart, Lung and Circulation, 16(1), 28-30. [More Information]
  • Uyanik, G., Morris-Rosendahl, D., Stiegler, J., Klapecki, J., Gross, C., Berman, Y., Martin, P., Dey, L., Spranger, S., Korenke, G., Ades, L., et al (2007). Location and type of mutation in the LIS1 gene do not predict phenotypic severity. Neurology, 69(5), 442-447. [More Information]
  • Guo, D., Pannu, H., Tran-Fadulu, V., Papke, C., Yu, R., Avidan, N., Bourgeois, S., Estrera, A., Safi, H., Ades, L., et al (2007). Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nature Genetics, 39(12), 1488-1493. [More Information]
  • Tay, T., Smith, J., Berman, Y., Ades, L., Missotte, I., Saglibene, H., Martin, F., Mitchell, P., Taylor, D. (2007). Nanophthalmos in a Melanesian population. Clinical and Experimental Ophthalmology, 35(4), 348-354. [More Information]
  • Ades, L., Sullivan, K., Biggin, A., Haan, E., Brett, M., Holman, K., Dixon, J., Robertson, S., Holmes, A., Rogers, J., Bennetts, B. (2006). FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. American Journal of Medical Genetics. Part A, 140(10), 1047-1058. [More Information]
  • Robertson, S., Jenkins, Z., Morgan, T., Ades, L., Aftimos, S., Boute, O., Fiskerstrand, T., Garcia-Miñaur, S., Grix, A., Green, A., et al (2006). Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. American Journal of Medical Genetics. Part A, 140(16), 1726-1736. [More Information]
  • Maclean, K., Smith, J., St Heaps, L., Chia, N., Williams, R., Peters, G., Onikul, E., McCrossin, T., Lehmann, O., Ades, L. (2005). Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome. American Journal of Medical Genetics. Part A, 132a (4), 381-385. [More Information]
  • Milledge, J., Ades, L., Cooper, M., Jaumees, A., Onikul, E. (2005). Severe spontaneous intracranial hypotension and Marfan syndrome in an adolescent. Journal of Paediatrics and Child Health, 41(1-2), 68-71. [More Information]
  • Biggin, A., Holman, K., Brett, M., Bennetts, B., Ades, L. (2004). Detection Of Thirty Novel FBN1 Mutations In Patients With Marfan Syndrome Or A Related Fibrillinopathy. Human Mutation, 23(1), 99-106.
  • Ades, L., Holman, K., Brett, M., Edwards, M., Bennetts, B. (2004). Ectopia Lentis Phenotypes And The Fbn1 Gene. American Journal of Medical Genetics. Part A, 126A (3), 284-289.
  • Balmer, R., Cameron, A., Ades, L., Aldred, M. (2004). Enamel Defects And Lyonization In Focal Dermal Hypoplasia. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, 98(6), 686-691.
  • Daniel, A., Wu, Z., Darmanian, A., Malafiej, P., Tembe, V., Peters, G., Kennedy, C., Ades, L. (2004). Issues Arising From The Prenatal Diagnosis Of Some Rare Trisomy Mosaics--The Importance Of Cryptic Fetal Mosaicism. Prenatal diagnosis, 24(7), 524-536. [More Information]
  • Colige, A., Nuytinck, L., Hausser, I., van Essen, A., Thiry, M., Herens, C., Ades, L., Malfait, F., De Paepe, A., Franck, P., et al (2004). Novel Types Of Mutation Responsible For The Dermatosparactic Type Of Ehlers-Danlos Syndrome (Type Viic) And Common Polymorphisms In The Adamts2 Gene. Journal of Investigative Dermatology, 123(4), 656-663.
  • Whitelaw, C., Anwar, S., Ades, L., Gole, G., Elder, J., Savarirayan, R. (2004). Primary Trabeculodysgenesis In Association With Neonatal Marfan Syndrome. American Journal of Medical Genetics. Part A, 128A (4), 418-421.
  • Sinnerbrink, I., Ades, L. (2004). Short Stature, Sensorineural Deafness, Ocular Abnormalities And Severe Mental Retardation In Two Siblings. A New Syndrome? Clinical Dysmorphology, 13(3), 173-177.
  • Neas, K., Chia, N., Clarke, M., Peters, G., Ades, L. (2003). A case of partial trisomy 4p syndrome presenting as severe hydronephrosis in utero. Clinical Dysmorphology, 11, 179-181.
  • Field, M., Grattan-Smith, P., Piper, S., Thompson, E., Haan, E., Edwards, M., James, S., Wilkinson,, I., Ades, L. (2003). PEHO and PEHO-like syndromes. Report of five Australian cases. American Journal of Medical Genetics. Part A, 122A (1), 6-12.
  • Daniel, A., Baker, E., Chia, N., Haan, E., Malafiej, P., Hinton, L., Clarke, N., Ades, L., Darmanian, A., Callen, D. (2003). Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2. A cause of minute terminal chromosomal imbalances. American Journal of Medical Genetics. Part A, 117A (1), 57-64.
  • Ades, L., White, S., Amor, D., Liebelt, J., Bankier, A., Baker, E., Wilson, M., Savarirayan, R. (2003). Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition. Clinical Dysmorphology, 12(2), 109-113.
  • Collod-Beroud, G., Le Bourdelles, S., Ades, L., Ala-Kokko, L., Booms, P., Boxer, M., Child, A., Comeglio, P., De Paepe, A., Hyland, J., et al (2003). Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Human Mutation, 22(3), 199-208. [More Information]
  • Ades, L., Sreetharan, D., Onikul, E., Stockton, V., Watson, K., Holman, K. (2002). Segregation of Novel FBN1 Gene Mutation, G1796E, with Kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations. American Journal of Medical Genetics. Part A, 109(4), 261-270.
  • Kamei, M., Ades, L., Eyre, H., Callen, D., Campbell, H. (2002). SOLH, a human homologue of the Drosophila Melanogaster small optic lobes gene is deleted in ATR-16 syndrome. Applied Genomics and Proteomics, 1(1), 65-71.
  • Gupta, P., Putnam, E., Carmical, S., Kaitila, I., Steinmann, B., Child, A., Danesino, C., Metcalfe, K., Berry, S., Chen, E., Ades, L., et al (2002). Ten Novel FBN2 Mutations in Congenital Contractural Arachnodactyly: Delineation of the Molecular Pathogenesis and Clinical Phenotype. Human Mutation, 19(1), 39-48.
  • Reardon, W., Smith, A., Honour, J., Hindmarsh, P., Das, D., Rumsby, G., Nelson, I., Malcolm, S., Ades, L., Sillence, D., et al (2000). Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? Journal of Medical Genetics, 37, 26-32.
  • Gecz, J., Fontes, M., Ades, L., Villard, L. (2000). Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers Syndrome. American Journal of Medical Genetics. Part A, 91(1), 83-85.
  • Robertson, S., Gattas, M., Rogers, M., Ades, L. (2000). Macrocephaly - cutis marmorata telangiectatica congenita: report of five patients and a review of the literature. Clinical Dysmorphology, 9, 1-9.
  • Gripp, K., Wootton, D., Edwards, M., Roessler, E., Ades, L., Meinecke, P., Riches, J., Zakai, E., Massague, J., Muenke, M., et al (2000). Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. Nature Genetics, 25(2), 205-208.

2015

  • Basart, H., van de Kar, A., Ades, L., Cho, T., Carter, E., Maas, S., Wilson, L., van der Horst, C., Wade, E., Robertson, S., et al (2015). Frontometaphyseal dysplasia and keloid formation without FLNA mutations. American Journal of Medical Genetics. Part A, 167(6), 1215-1222. [More Information]

2014

  • Murray, J., Bicknell, L., Yigit, G., Duker, A., Van Kogelenberg, M., Haghayegh, S., Wieczorek, D., Kayserili, H., Albert, M., Wise, C., Ades, L., Ma, A., et al (2014). Extreme growth failure is a common presentation of ligase IV deficiency. Human Mutation, 35(1), 76-85. [More Information]

2013

  • Alders, M., Mendola, A., Ades, L., Al-Gazali, L., Bellini, C., Dallapiccola, B., Edery, P., Frank, U., Hornshuh, F., Huisman, S., et al (2013). Evaluation of clinical manifestations in patients with severe lymphedema with and without CCBE1 mutations. Molecular Syndromology, 4(3), 107-113. [More Information]

2012

  • Faivre, L., Collod-Beroud, G., Ades, L., Arbustini, E., Child, A., Callewaert, B., Loeys, B., Binquet, C., Gautier, E., Mayer, K., et al (2012). The new Ghent criteria for Marfan syndrome: What do they change? Clinical Genetics, 81(5), 433-442. [More Information]

2011

  • Talkowski, M., Mullegama, S., Rosenfeld, J., van Bon, B., Shen, Y., Repnikova, E., Gastier-Foster, J., Thrush, D., Kathiresan, S., Ruderfer, D., Ades, L., et al (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, 551-563. [More Information]
  • Stheneur, C., Faivre, L., Collod-Beroud, G., Gautier, E., Binquet, C., Bonithon-Kopp, C., Claustres, M., Child, A., Arbustini, E., Ades, L., et al (2011). Prognosis Factors in Probands With an FBN1 Mutation Diagnosed Before the Age of 1 Year. Pediatric Research: international journal of human developmental biology, 69(3), 265-270. [More Information]

2010

  • Renard, M., Holm, T., Veith, R., Callewaert, B., Ades, L., Baspinar, O., Pickart, A., Dasouki, M., Hoyer, J., Rauch, A., et al (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. [More Information]
  • Detaint, D., Faivre, L., Collod-Beroud, G., Child, A., Loeys, B., Binquet, C., Gautier, E., Arbustini, E., Mayer, K., Arslan-Kirchner, M., Ades, L., et al (2010). Cardiovascular manifestations in men and women carrying a FBN1 mutation. European Heart Journal, 31(18), 2223-2229. [More Information]
  • Milewicz, D., Ostergaard, J., Ala-Kokko, L., Khan, N., Grange, D., Mendoza-Londono, R., Bradley, T., Haskins Olney, A., Ades, L., Maher, J., et al (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. [More Information]
  • van Bon, B., Koolen, D., Brueton, L., McMullan, D., Lichtenbelt, K., Ades, L., Peters, G., Gibson, K., Novara, F., Pramparo, T., Wilson, M., et al (2010). The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype. European Journal of Human Genetics, 18(2), 163-170. [More Information]

2009

  • Faivre, L., Masurel-Paulet, A., Collod-Beroud, G., Callewaert, B., Child, A., Stheneur, C., Binquet, C., Gautier, E., Chevallier, B., Huet, F., Ades, L., et al (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. [More Information]
  • Faivre, L., Collod-Beroud, G., Callewaert, B., Child, A., Binquet, C., Gautier, E., Loeys, B., Arbustini, E., Mayer, K., Arslan-Kirchner, M., Ades, L., et al (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(4), 491-501. [More Information]
  • 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(9), 1037-U116. [More Information]
  • Jenkins, Z., van Kogelenberg, M., Morgan, T., Jeffs, A., Fukuzawa, R., Pearl, E., Thaller, C., Hing, A., Porteous, M., Ades, L., Tchan, M., et al (2009). Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nature Genetics, 41(1), 95-100. [More Information]
  • Faivre, L., Collod-Beroud, G., Callewaert, B., Child, A., Loeys, B., Binquet, C., Gautier, E., Arbustini, E., Mayer, K., Arslan-Kirchner, M., Ades, L., et al (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 (5), 854-860. [More Information]

2008

  • Faivre, L., Collod-Beroud, G., Child,, A., Callewaert, B., Loeys, B., Binquet, C., Gautier, E., Arbustini, E., Mayer, K., Arslan-Kirchner, M., Ades, L., et al (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. [More Information]
  • Jaeckle Santos, L., Xing, C., Barnes, R., Ades, L., Megarbane, A., Vidal, C., Xuereb, A., Tarpey, P., Smith, R., Khazab, M., et al (2008). Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes. Human Genetics, 123(5), 469-476. [More Information]

2007

  • Jatana, V., Gillis, J., Webster, B., Ades, L. (2007). Deletion 22q11.2 syndrome-Implications for the intensive care physician. Pediatric Critical Care Medicine, 8(5), 459-463. [More Information]
  • Jatana, V., Gillis, J., Webster, B., Ades, L. (2007). Deletion 22q11.2 syndrome-Implications for the intensive care physician. Pediatric Critical Care Medicine, 8(5), 459-463.
  • Maclean, K., Holme, S., Gilmour, E., Taylor, M., Scheffer, H., Smith, G., Onikul, E., van Bokhoven, H., Moss, C., Ades, L., et al (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. [More Information]
  • Faivre, L., Collod-Beroud, G., Loeys, B., Child, A., Binquet, C., Gautier, E., Callewaert, B., Arbustini, E., Mayer, K., Ades, L., et al (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), 454-466. [More Information]
  • Ades, L. (2007). Guidelines for the Diagnosis and Management of Marfan Syndrome. Heart, Lung and Circulation, 16(1), 28-30. [More Information]
  • Uyanik, G., Morris-Rosendahl, D., Stiegler, J., Klapecki, J., Gross, C., Berman, Y., Martin, P., Dey, L., Spranger, S., Korenke, G., Ades, L., et al (2007). Location and type of mutation in the LIS1 gene do not predict phenotypic severity. Neurology, 69(5), 442-447. [More Information]
  • Guo, D., Pannu, H., Tran-Fadulu, V., Papke, C., Yu, R., Avidan, N., Bourgeois, S., Estrera, A., Safi, H., Ades, L., et al (2007). Mutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nature Genetics, 39(12), 1488-1493. [More Information]
  • Tay, T., Smith, J., Berman, Y., Ades, L., Missotte, I., Saglibene, H., Martin, F., Mitchell, P., Taylor, D. (2007). Nanophthalmos in a Melanesian population. Clinical and Experimental Ophthalmology, 35(4), 348-354. [More Information]

2006

  • Ades, L., Sullivan, K., Biggin, A., Haan, E., Brett, M., Holman, K., Dixon, J., Robertson, S., Holmes, A., Rogers, J., Bennetts, B. (2006). FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. American Journal of Medical Genetics. Part A, 140(10), 1047-1058. [More Information]
  • Robertson, S., Jenkins, Z., Morgan, T., Ades, L., Aftimos, S., Boute, O., Fiskerstrand, T., Garcia-Miñaur, S., Grix, A., Green, A., et al (2006). Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. American Journal of Medical Genetics. Part A, 140(16), 1726-1736. [More Information]

2005

  • Maclean, K., Smith, J., St Heaps, L., Chia, N., Williams, R., Peters, G., Onikul, E., McCrossin, T., Lehmann, O., Ades, L. (2005). Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome. American Journal of Medical Genetics. Part A, 132a (4), 381-385. [More Information]
  • Milledge, J., Ades, L., Cooper, M., Jaumees, A., Onikul, E. (2005). Severe spontaneous intracranial hypotension and Marfan syndrome in an adolescent. Journal of Paediatrics and Child Health, 41(1-2), 68-71. [More Information]

2004

  • Biggin, A., Holman, K., Brett, M., Bennetts, B., Ades, L. (2004). Detection Of Thirty Novel FBN1 Mutations In Patients With Marfan Syndrome Or A Related Fibrillinopathy. Human Mutation, 23(1), 99-106.
  • Ades, L., Holman, K., Brett, M., Edwards, M., Bennetts, B. (2004). Ectopia Lentis Phenotypes And The Fbn1 Gene. American Journal of Medical Genetics. Part A, 126A (3), 284-289.
  • Balmer, R., Cameron, A., Ades, L., Aldred, M. (2004). Enamel Defects And Lyonization In Focal Dermal Hypoplasia. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, 98(6), 686-691.
  • Daniel, A., Wu, Z., Darmanian, A., Malafiej, P., Tembe, V., Peters, G., Kennedy, C., Ades, L. (2004). Issues Arising From The Prenatal Diagnosis Of Some Rare Trisomy Mosaics--The Importance Of Cryptic Fetal Mosaicism. Prenatal diagnosis, 24(7), 524-536. [More Information]
  • Colige, A., Nuytinck, L., Hausser, I., van Essen, A., Thiry, M., Herens, C., Ades, L., Malfait, F., De Paepe, A., Franck, P., et al (2004). Novel Types Of Mutation Responsible For The Dermatosparactic Type Of Ehlers-Danlos Syndrome (Type Viic) And Common Polymorphisms In The Adamts2 Gene. Journal of Investigative Dermatology, 123(4), 656-663.
  • Whitelaw, C., Anwar, S., Ades, L., Gole, G., Elder, J., Savarirayan, R. (2004). Primary Trabeculodysgenesis In Association With Neonatal Marfan Syndrome. American Journal of Medical Genetics. Part A, 128A (4), 418-421.
  • Sinnerbrink, I., Ades, L. (2004). Short Stature, Sensorineural Deafness, Ocular Abnormalities And Severe Mental Retardation In Two Siblings. A New Syndrome? Clinical Dysmorphology, 13(3), 173-177.

2003

  • Neas, K., Chia, N., Clarke, M., Peters, G., Ades, L. (2003). A case of partial trisomy 4p syndrome presenting as severe hydronephrosis in utero. Clinical Dysmorphology, 11, 179-181.
  • Field, M., Grattan-Smith, P., Piper, S., Thompson, E., Haan, E., Edwards, M., James, S., Wilkinson,, I., Ades, L. (2003). PEHO and PEHO-like syndromes. Report of five Australian cases. American Journal of Medical Genetics. Part A, 122A (1), 6-12.
  • Daniel, A., Baker, E., Chia, N., Haan, E., Malafiej, P., Hinton, L., Clarke, N., Ades, L., Darmanian, A., Callen, D. (2003). Recombinants of intrachromosomal transposition of subtelomeres in chromosomes 1 and 2. A cause of minute terminal chromosomal imbalances. American Journal of Medical Genetics. Part A, 117A (1), 57-64.
  • Ades, L., White, S., Amor, D., Liebelt, J., Bankier, A., Baker, E., Wilson, M., Savarirayan, R. (2003). Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition. Clinical Dysmorphology, 12(2), 109-113.
  • Collod-Beroud, G., Le Bourdelles, S., Ades, L., Ala-Kokko, L., Booms, P., Boxer, M., Child, A., Comeglio, P., De Paepe, A., Hyland, J., et al (2003). Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Human Mutation, 22(3), 199-208. [More Information]

2002

  • Ades, L., Sreetharan, D., Onikul, E., Stockton, V., Watson, K., Holman, K. (2002). Segregation of Novel FBN1 Gene Mutation, G1796E, with Kyphoscoliosis and radiographic evidence of vertebral dysplasia in three generations. American Journal of Medical Genetics. Part A, 109(4), 261-270.
  • Kamei, M., Ades, L., Eyre, H., Callen, D., Campbell, H. (2002). SOLH, a human homologue of the Drosophila Melanogaster small optic lobes gene is deleted in ATR-16 syndrome. Applied Genomics and Proteomics, 1(1), 65-71.
  • Gupta, P., Putnam, E., Carmical, S., Kaitila, I., Steinmann, B., Child, A., Danesino, C., Metcalfe, K., Berry, S., Chen, E., Ades, L., et al (2002). Ten Novel FBN2 Mutations in Congenital Contractural Arachnodactyly: Delineation of the Molecular Pathogenesis and Clinical Phenotype. Human Mutation, 19(1), 39-48.

2000

  • Reardon, W., Smith, A., Honour, J., Hindmarsh, P., Das, D., Rumsby, G., Nelson, I., Malcolm, S., Ades, L., Sillence, D., et al (2000). Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? Journal of Medical Genetics, 37, 26-32.
  • Gecz, J., Fontes, M., Ades, L., Villard, L. (2000). Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers Syndrome. American Journal of Medical Genetics. Part A, 91(1), 83-85.
  • Robertson, S., Gattas, M., Rogers, M., Ades, L. (2000). Macrocephaly - cutis marmorata telangiectatica congenita: report of five patients and a review of the literature. Clinical Dysmorphology, 9, 1-9.
  • Gripp, K., Wootton, D., Edwards, M., Roessler, E., Ades, L., Meinecke, P., Riches, J., Zakai, E., Massague, J., Muenke, M., et al (2000). Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. Nature Genetics, 25(2), 205-208.

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