S M White
Affiliation: University of Melbourne
- Two further cases of Ohdo syndrome delineate the phenotypic variability of the conditionS 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...
- Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?D Ganesamoorthy
VCGS Cytogenetics Laboratory, Murdoch Childrens Research Institute, Royal Children s Hospital, Parkville, Australia
BJOG 120:594-606. 2013....
- Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotypingD L Bruno
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia
J Med Genet 48:831-9. 2011..However, there remains little specific information on the clinical utility of this genotyping data...
- Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndromeS 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...
- 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 practiceD 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....
- Clinical studies on submicroscopic subtelomeric rearrangements: a checklistB B de Vries
Clinical and Molecular Genetics Unit, Institute of Child Health and Great Ormond Street Hospital, London, UK
J Med Genet 38:145-50. 2001....
- The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutationsG Turner
Hunter Genetics and University of Newcastle, New South Wales, Australia
Clin Genet 65:226-32. 2004..Twenty percent have significant learning problems, and 95% have skewed X inactivation. We conclude that this syndrome may be underdiagnosed in males in their early years and missed altogether in isolated heterozygous females...