R Savarirayan

Summary

Affiliation: University of Melbourne
Country: Australia

Publications

  1. ncbi request reprint New mesomelic dysplasia with absent fibulae and triangular tibiae
    R Savarirayan
    Medical Genetics Birth Defects Center, Steven Spielberg Pediatrics Research Center, Cedars Sinai Medical Center and UCLA School of Medicine, Los Angeles, California, USA
    Am J Med Genet 94:59-63. 2000
  2. ncbi request reprint The mutational spectrum of brachydactyly type C
    David B Everman
    Department of Genetics, Case Western Reserve University, Cleveland, Ohio 44106, USA
    Am J Med Genet 112:291-6. 2002
  3. ncbi request reprint The skeletal dysplasias
    Ravi Savarirayan
    Genetic Health Services Victoria, 10th Floor, Royal Children s Hospital, Parkville 3052, Australia
    Best Pract Res Clin Endocrinol Metab 16:547-60. 2002
  4. ncbi request reprint Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia
    Valentine J Hyland
    Department of Surgery, University of Queensland, Royal Brisbane Hospital, Herston Hospitals Campus, Brisbane, Australia
    Am J Med Genet A 120:157-68. 2003
  5. ncbi request reprint Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal type, demonstrating natural history
    Ravi Savarirayan
    Genetic Health Services Victoria and Murdoch Childrens Research Institute, Royal Children s Hospital, Parkville, Victoria, Australia
    Am J Med Genet A 124:148-57. 2004
  6. ncbi request reprint Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families
    Ravi Savarirayan
    Genetic Health Services Victoria, Royal Children s Hospital, Parkville, Australia
    Am J Med Genet A 117:136-42. 2003
  7. ncbi request reprint Variable expression of campomelic dysplasia in a father and his 46, XY daughter
    Ravi Savarirayan
    Victorian Clinical Genetics Services, Royal Children s Hospital and University of Melbourne, Parkville, Victoria 3052, Australia
    Pediatr Pathol Mol Med 22:37-46. 2003
  8. ncbi request reprint Molecular analysis for genetic counselling in amelogenesis imperfecta
    M J Aldred
    Department of Dentistry, Royal Children s Hospital, Melbourne, Australia
    Oral Dis 8:249-53. 2002
  9. doi request reprint The skeletal manifestations of the congenital disorders of glycosylation
    D Coman
    Genetic Health Services Victoria, Melbourne, Australia
    Clin Genet 73:507-15. 2008
  10. ncbi request reprint Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome
    S M White
    Genetic Health Services Victoria, Royal Children s Hospital, Melbourne, Australia
    Am J Med Genet A 127:118-27. 2004

Collaborators

Detail Information

Publications51

  1. ncbi request reprint New mesomelic dysplasia with absent fibulae and triangular tibiae
    R Savarirayan
    Medical Genetics Birth Defects Center, Steven Spielberg Pediatrics Research Center, Cedars Sinai Medical Center and UCLA School of Medicine, Los Angeles, California, USA
    Am J Med Genet 94:59-63. 2000
    ..These cases appear to represent a new form of mesomelic dysplasia distinct from those previously delineated...
  2. ncbi request reprint The mutational spectrum of brachydactyly type C
    David B Everman
    Department of Genetics, Case Western Reserve University, Cleveland, Ohio 44106, USA
    Am J Med Genet 112:291-6. 2002
    ..These data support the hypothesis that BDC results from functional haploinsufficiency for GDF5...
  3. ncbi request reprint The skeletal dysplasias
    Ravi Savarirayan
    Genetic Health Services Victoria, 10th Floor, Royal Children s Hospital, Parkville 3052, Australia
    Best Pract Res Clin Endocrinol Metab 16:547-60. 2002
    ....
  4. ncbi request reprint Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasia
    Valentine J Hyland
    Department of Surgery, University of Queensland, Royal Brisbane Hospital, Herston Hospitals Campus, Brisbane, Australia
    Am J Med Genet A 120:157-68. 2003
    ..These findings confirm the proposita to be a somatic and germline mosaic for this particular missense mutation in FGFR3. Thus far, all reported FGFR3 R248C mutations have resulted in thanatophoric dysplasia type I (TDI)...
  5. ncbi request reprint Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal type, demonstrating natural history
    Ravi Savarirayan
    Genetic Health Services Victoria and Murdoch Childrens Research Institute, Royal Children s Hospital, Parkville, Victoria, Australia
    Am J Med Genet A 124:148-57. 2004
    ..These data suggest that the longterm clinical and functional prognosis in this condition appears to be better than that expected based on initial clinical and radiological findings...
  6. ncbi request reprint Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families
    Ravi Savarirayan
    Genetic Health Services Victoria, Royal Children s Hospital, Parkville, Australia
    Am J Med Genet A 117:136-42. 2003
    ..e., clubfoot, short stature, spondylolysis) may also result from CDMP-1 mutation...
  7. ncbi request reprint Variable expression of campomelic dysplasia in a father and his 46, XY daughter
    Ravi Savarirayan
    Victorian Clinical Genetics Services, Royal Children s Hospital and University of Melbourne, Parkville, Victoria 3052, Australia
    Pediatr Pathol Mol Med 22:37-46. 2003
    ..Parents of individuals with CD should be examined for minimal manifestations of the disorder, which may represent phenotypic variability in the syndrome or somatic mosaicism...
  8. ncbi request reprint Molecular analysis for genetic counselling in amelogenesis imperfecta
    M J Aldred
    Department of Dentistry, Royal Children s Hospital, Melbourne, Australia
    Oral Dis 8:249-53. 2002
    ..To use molecular genetics to establish the mode of inheritance in a family with amelogenesis imperfecta...
  9. doi request reprint The skeletal manifestations of the congenital disorders of glycosylation
    D Coman
    Genetic Health Services Victoria, Melbourne, Australia
    Clin Genet 73:507-15. 2008
    ..We discuss the possible underlying mechanisms of these skeletal manifestations observed in CDG that are important and frequently under-recognized...
  10. ncbi request reprint Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome
    S M White
    Genetic Health Services Victoria, Royal Children s Hospital, Melbourne, Australia
    Am J Med Genet A 127:118-27. 2004
    ..A behavior phenotype was noted which requires further investigation. Head size is not a predictor of degree of intellectual disability...
  11. ncbi request reprint Amelogenesis imperfecta: a classification and catalogue for the 21st century
    M J Aldred
    Department of Dentistry, Royal Children s Hospital, Melbourne, Australia
    Oral Dis 9:19-23. 2003
    ..We argue that this system is of more benefit to these individuals and families than previous classifications...
  12. ncbi request reprint An autosomal dominant or X-linked osteodysplastic disorder with severe cervical involvement
    S P Robertson
    Victorian Clinical Genetics Service, Royal Children s Hospital, Parkville, Australia
    Am J Med Genet 83:17-22. 1999
    ..This entity appears unrelated to other previously described skeletal dysplasias with cervical kyphosis as a major manifestation. This disorder is most likely autosomal dominant...
  13. ncbi request reprint It's only teeth - are there limits to genetic testing?
    M Aldred
    Department of Dentistry, Royal Children s Hospital, Melbourne, Australia
    Clin Genet 63:333-9. 2003
    ..The questions we pose are whether these approaches are appropriate. We hope that this review will stimulate debate on these issues...
  14. doi request reprint Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice
    D L Bruno
    Cytogenetics Laboratory, Victorian Clinical Genetics Services Pathology, Murdoch Children s Research Institute, Royal Children s Hospital, Parkville, Victoria 3052, Australia
    J Med Genet 46:123-31. 2009
    ....
  15. ncbi request reprint "Duplicate calcaneus": a rare developmental defect observed in several skeletal dysplasias
    V Cormier-Daire
    Cedars-Sinai Medical Center and UCLA School of Medicine, Los Angeles, California 90048, USA
    Pediatr Radiol 31:38-42. 2001
    ..We conclude that duplication of the calcaneus should be considered a consistent feature of these entities and may reflect a more generalized developmental defect...
  16. ncbi request reprint "Baby rattle" pelvis dysplasia
    V Cormier-Daire
    Medical Genetics Birth Defects Center, Steven Spielberg Pediatric Research Center, Cedars-Sinai Burns and Allen Research Institute, Los Angeles, California, USA
    Am J Med Genet 100:37-42. 2001
    ....
  17. ncbi request reprint Microlissencephaly with cardiac, spinal and urogenital defects
    R J Gardner
    Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Australia
    Clin Dysmorphol 10:203-8. 2001
    ..The inheritance is likely to be autosomal recessive, although X-linkage cannot be excluded...
  18. doi request reprint Two novel germline KRAS mutations: expanding the molecular and clinical phenotype
    Z Stark
    Genetic Health Services Victoria, Murdoch Children s Research Institute, Melbourne, Australia
    Clin Genet 81:590-4. 2012
    ..All three cases highlight the challenges of clinical assessment in KRAS mutation-positive patients, and the utility of molecular testing as an adjunct to diagnosis...
  19. ncbi request reprint IMAGe syndrome: a complex disorder affecting growth, adrenal and gonadal function, and skeletal development
    C C Pedreira
    Department of Endocrinology and Diabetes, Royal Children s Hospital, and Genetic Health Services Victoria, Murdoch Children s Research Institute, Parkville, Melbourne, Victoria, Australia
    J Pediatr 144:274-7. 2004
    ..IMAGe is a complex syndrome involving dysmorphic features; disorders of growth, gonadal, and adrenal function; and skeletal abnormalities...
  20. ncbi request reprint Clinical and radiographic features of a family with autosomal dominant amelogenesis imperfecta with taurodontism
    M J Aldred
    Department of Dentistry, Royal Children s Hospital, Melbourne, Australia
    Oral Dis 8:62-8. 2002
    ....
  21. ncbi request reprint New case of Cole-Carpenter syndrome
    D J Amor
    Victorian Clinical Genetics Service, Royal Children s Hospital, Australia
    Am J Med Genet 92:273-7. 2000
    ..Collagen analysis was normal. These features are consistent with the diagnosis of Cole-Carpenter syndrome. This report provides further evidence for the existence of this rare genetic entity...
  22. doi request reprint Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type Ia
    D Coman
    Genetic Health Services Victoria, Murdoch Children s Research Institute, Royal Children s Hospital, Melbourne, Australia
    Am J Med Genet A 146:389-92. 2008
  23. pmc Genetic counselling after carrier detection by newborn screening when one parent carries DeltaF508 and the other R117H
    L Curnow
    Genetic Health Services Victoria, Murdoch Children s Research Institute, Royal Children s Hospital, Melbourne, Victoria, Australia
    Arch Dis Child 88:886-8. 2003
    ..Owing to the variable phenotype associated with R117H we have developed an approach to this difficult genetic counselling situation. Centres offering or considering NBS for CF will need an approach to this problem...
  24. ncbi request reprint Molecular diagnosis of Stickler syndrome: a COL2A1 stop codon mutation screening strategy that is not compromised by mutant mRNA instability
    S Freddi
    Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Victoria, Australia
    Am J Med Genet 90:398-406. 2000
    ....
  25. ncbi request reprint Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition
    S M White
    Genetic Health Services Victoria, Royal Children s Hospital, Melbourne, Parkville 3052, Victoria, Australia
    Clin Dysmorphol 12:109-13. 2003
    ..Subtelomeric FISH studies of all chromosome arms on the two cases showed no abnormality. We propose clinical criteria for the diagnosis of Ohdo syndrome and delineate features of the severe phenotype...
  26. ncbi request reprint Dental findings in a family with hyperparathyroidism-jaw tumor syndrome and a novel HRPT2 gene mutation
    Michael J Aldred
    Dorevitch Pathology, Victoria 3084, Australia
    Oral Surg Oral Med Oral Pathol Oral Radiol Endod 101:212-8. 2006
    ..Cemento-ossifying fibroma is the preferred term to better reflect the pathologies found in most individuals and families,and to emphasize the significance of the jaw lesions in the diagnosis of the syndrome...
  27. ncbi request reprint Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia
    John F Bateman
    Murdoch Childrens Research Institute, Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Victoria, Australia
    Hum Mutat 25:525-34. 2005
    ..Thus for both classes of mutations, functional haploinsufficiency is the most probable cause of the clinical phenotype in SMCD...
  28. ncbi request reprint Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter
    Amy C Cohn
    Department of Ophthalmology, Royal Victorian Eye and Ear Hospital, 32 Gisborne Street, Eats Melbourne, VIC 3002, Australia
    Ophthalmic Genet 26:45-53. 2005
    ..To present a case of congenital glaucoma with an unbalanced translocation trisomy 8q22-qter/monosomy 9p23-pter, resulting in trisomy of the GLC1D locus. To perform a literature review of chromosomal abnormalities associated with glaucoma...
  29. ncbi request reprint Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: further evidence that collagen X NC1 mutations impair trimer assembly
    John F Bateman
    Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, Australia
    Hum Mutat 23:396. 2004
    ..The data suggest that in these two patients, SMCD results from mutations at another gene locus. No mutations were detected in RMRP, the gene for cartilage-hair hypoplasia that has phenotypic overlap with SMCD...
  30. ncbi request reprint Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1-13q32.3
    David J Amor
    Murdoch Childrens Research Institute, Royal Children s Hospital, Flemington Road, Parkville 3052, Victoria, Australia
    Am J Med Genet A 133:151-7. 2005
    ..The ring chromosome appears to be prone to low-level misdivision and loss in vitro which, in vivo, must be countered by selection for the balanced karyotype because the level of mosaicism has remained stable over 13 years...
  31. ncbi request reprint Bulldog dwarfism in Dexter cattle is caused by mutations in ACAN
    Julie A L Cavanagh
    Reprogen, The University of Sydney, PMB3, Camden, New South Wales 2570, Australia
    Mamm Genome 18:808-14. 2007
    ..The heterozygous and homozygous-affected Dexter cattle could prove invaluable as a model for human disorders caused by mutations in ACAN...
  32. ncbi request reprint Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage
    John F Bateman
    Cell and Matrix Biology Research Unit, Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Parkville, Victoria 3052, Australia
    Hum Mol Genet 12:217-25. 2003
    ....
  33. ncbi request reprint Familial digital arthropathy-brachydactyly
    David J Amor
    Genetic Health Services Victoria, Royal Children s Hospital, Victoria, Australia
    Am J Med Genet 108:235-40. 2002
    ....
  34. ncbi request reprint Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable sign
    Outi Makitie
    Center for the Study of Heritable Connective Tissue Diseases, Research Institute, University of Toronto, Toronto, Ontario M5G 1X8, Canada
    Am J Med Genet A 122:187-92. 2003
    ..Hip dysplasia and patella hypermobility dominates the otherwise mild phenotype. These patients further expand the range of causative mutations in the DTD skeletal dysplasia family...
  35. ncbi request reprint Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis
    Jan Hellemans
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Hum Mutat 27:290. 2006
    ..Somatic mosaicism for a LEMD3 mutation in the latter group was also not observed, and therefore we must conclude that the genetic defect in the majority of sporadic and isolated melorheostosis remains unknown...
  36. doi request reprint Spondylocostal dysostosis in a pregnancy complicated by confined placental mosaicism for tetrasomy 9p
    David Coman
    Murdoch Childrens Research Institute, Royal Children s Hospital, Melbourne, Australia
    Am J Med Genet A 146:1972-6. 2008
    ..Testing of the genes DLL3, MESP2, and LFNG did not identify a mutation, suggesting that the siblings may have a new molecular subtype of SCD...
  37. ncbi request reprint Isolated and syndromic syngnathism: management, implications, and genetics
    Jillian K Tomlinson
    Royal Children s Hospital Melbourne, Australia
    Ann Plast Surg 57:231-5. 2006
    ..Interalveolar synechiae is a condition with an excellent prognosis; its presence necessitates careful examination for associated abnormalities and syndromes...
  38. ncbi request reprint A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome
    Tiong Yang Tan
    Genetic Health Services Victoria, Royal Children s Hospital, Melbourne, Australia
    Am J Med Genet A 139:216-20. 2005
    ..We suggest that patients suspected of having Cantu syndrome, especially those with unusual or more severe manifestations be analyzed for distal 1p36 deletions...
  39. ncbi request reprint An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblings
    Peter Kannu
    Genetic Health Services Victoria, Royal Children s Hospital, Melbourne, Australia
    Am J Med Genet A 143:2607-11. 2007
    ..Whether these two cases should be considered an atypical form of SRP cannot be completely resolved at this present time and will need to wait on further progress in molecular testing...
  40. ncbi request reprint Medial temporal lobe dysgenesis in hypochondroplasia
    Peter Kannu
    Genetic Health Services, Victoria, Australia
    Am J Med Genet A 138:389-91. 2005
    ..Further neuroimaging studies of patients with hypochondroplasia and epilepsy or developmental delay may clarify the proportion of patients with hypochondroplasia who have this pattern of central nervous system abnormalities...
  41. ncbi request reprint Autosomal recessive omodysplasia: early prenatal diagnosis and a possible clue to the gene location
    Tiong Yang Tan
    Genetic Health Services Victoria, Royal Children s Hospital, Melbourne, Australia
    Am J Med Genet A 135:324-7. 2005
    ..3. Due to similarities in the clinical phenotype between diastrophic dysplasia and this condition, testing for DTDST mutation was performed with no mutation detected...
  42. ncbi request reprint Unilateral acheiria and fatal primary pulmonary hypertension in a girl with incontinentia pigmenti
    Ian M Hayes
    Genetic Health Services Victoria, MCRI, Parkville, Australia
    Am J Med Genet A 135:302-3. 2005
    ..A review of the cause of IP shows that these rare manifestations may not be unexpected, given the many roles of the underlying gene product...
  43. ncbi request reprint Experiences at the time of diagnosis of parents who have a child with a bone dysplasia resulting in short stature
    Victoria Hill
    Murdoch Childrens Research Institute, Melbourne, Victoria, Australia
    Am J Med Genet A 122:100-7. 2003
    ..The multidisciplinary approach of the Bone Dysplasia Clinic was important to parents in the continued management of the families...
  44. ncbi request reprint Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasia
    Paul A James
    Prenat Diagn 23:861-3. 2003
  45. ncbi request reprint Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia?
    Katrien Janssens
    Department of Medical Genetics, University of Antwerp, Belgium
    Clin Dysmorphol 12:245-50. 2003
    ..We believe this patient represents one of the very few examples of adult craniodiaphyseal dysplasia with a mild form of the disease and moderate facial changes...
  46. ncbi request reprint Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)
    Ravi Savarirayan
    Genetic Health Services Victoria, Murdoch Childrens Research Institute and Department of Paediatrics, University of Melbourne, Victoria, Australia
    Eur J Hum Genet 11:639-42. 2003
    ..The function of the SEDL protein is not known although it is speculated that it may participate in the ER-to-Golgi transport as part of a novel highly conserved multiprotein TRAPP complex...
  47. ncbi request reprint TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA
    Lucia Susani
    Istituto di Tecnologie Biomediche, CNR, Milan, Italy
    Hum Mutat 24:225-35. 2004
    ..In addition, the present results suggest that modified U1 snRNAs may represent a new therapeutic strategy for arOP patients with a U1 snRNP-dependent splicing defect...
  48. ncbi request reprint Skeletal dysplasias
    Ravi Savarirayan
    Department of Paediatrics, University of Melbourne, Australia
    Adv Pediatr 51:209-29. 2004
  49. ncbi request reprint Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis
    Jan Hellemans
    Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium
    Nat Genet 36:1213-8. 2004
    ..XMAN1, the Xenopus laevis ortholog, antagonizes BMP signaling during embryogenesis. In this study, LEMD3 interacted with BMP and activin-TGFbeta receptor-activated Smads and antagonized both signaling pathways in human cells...
  50. ncbi request reprint Are Duane syndrome and infantile esotropia allelic?
    Benjamin J Connell
    CERA, University of Melbourne, Department of Ophthalmology, Royal Victorian Eye and Ear Hospital, Australia
    Ophthalmic Genet 25:189-98. 2004
    ..To evaluate the clinical overlap of families with Duane syndrome and infantile esotropia to determine whether the identification of genes for Duane syndrome may explain some cases of infantile esotropia...
  51. ncbi request reprint Neuropsychological diversity in Apert syndrome: a comparison of cognitive profiles
    Annette C Da Costa
    Royal Children s Hospital, Flemington Road, Parkville, Victoria 3052, Australia
    Ann Plast Surg 54:450-5. 2005
    ....