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

  • 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.
  • 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 and Endodontology, 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.

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.
  • 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 and Endodontology, 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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