David Ravine

Professor, BMedSc MB BS W.Aust., DM Melb., MRCPath(UK), FRACP, FRCPA, DHGSA

  • The University of Western Australia (M504), 35 Stirling Highway,

    6009 Perth

    Australia

  • 2121 Citations
  • 23 h-Index
20012018
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Research Output 2001 2018

  • 2121 Citations
  • 23 h-Index
  • 39 Article
  • 6 Review article
  • 3 Letter
  • 1 Conference paper
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Article
2018
1 Citation (Scopus)

A review of structural brain abnormalities in Pallister-Killian syndrome

Poulton, C., Baynam, G., Yates, C., Alinejad-Rokny, H., Williams, S., Wright, H., Woodward, K. J., Sivamoorthy, S., Peverall, J., Shipman, P., Ravine, D., Beilby, J. & Heng, J. I-T., Jan 2018, In : Molecular genetics & genomic medicine. 6, 1, p. 92-98 7 p.

Research output: Contribution to journalArticle

Open Access
2017
16 Citations (Scopus)

Cytokine levels and associations with symptom severity in male and female children with autism spectrum disorder

Masi, A., Breen, E. J., Alvares, G. A., Glozier, N., Hickie, I. B., Hunt, A., Hui, J., Beilby, J., Ravine, D., Wray, J., Whitehouse, A. J. O. & Guastella, A. J., 2 Dec 2017, In : Molecular Autism. 8, 1, 63.

Research output: Contribution to journalArticle

Open Access
Cytokines
Immune System
Autism Spectrum Disorder
Interleukin-8
Interleukin-1
2014
14 Citations (Scopus)

Development and validation of a family history screening questionnaire in Australian primary care

Emery, J., Reid, G., Prevost, A. T., Ravine, D. & Walter, F., May 2014, In : Annals of Family Medicine. 12, 3, p. 241-249

Research output: Contribution to journalArticle

Open Access
Primary Health Care
Pedigree
General Practice
Western Australia
ROC Curve
2012
6 Citations (Scopus)

What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?

Zhang, J., Bao, X., Cao, G., Jiang, S., Zhu, X., Lu, H., Jia, L., Pan, H., Fehr, S., Davis, M., Leonard, H., Ravine, D. & Wu, X., 2012, In : Clinical Genetics. 82, 6, p. 526-533

Research output: Contribution to journalArticle

2010
11 Citations (Scopus)

A retrospective audit of family history records in short-stay medical admissions

Langlands, A. R., Prentice, D. A. & Ravine, D., 2010, In : Medical Journal of Australia. 192, p. 682-684

Research output: Contribution to journalArticle

46 Citations (Scopus)

Linking MECP2 and pain sensitivity: the example of Rett syndrome

Downs, J., Geranton, S. M., Bebbington, A., Jacoby, P., Bahi-Buisson, N., Ravine, D. & Leonard, H., 2010, In : Am J Med Genet A. 152A, 5, p. 1197-1205

Research output: Contribution to journalArticle

15 Citations (Scopus)

Maternal family history of diabetes Is associated with a reduced risk of cardiovascular disease in women With type 2 diabetes: The Fremantle Diabetes Study

Bruce, D., Van-Minnen, K. M., Davis, W., Mudhar, J., Perret, M., Subawickrama, D. P., Venkitachalam, S., Ravine, D. & Davis, T., 2010, In : Diabetes Care. 33, 7, p. 1477-1483

Research output: Contribution to journalArticle

Open Access
42 Citations (Scopus)

Updating the profile of C-terminal MECP2 deletions in Rett syndrome

Bebbington, A., Percy, A., Christodoulou, J., Ravine, D., Ho, G., Jacoby, P., Anderson, A., Pineda, M., Ben Zeev, B., Bahi-Buisson, N., Smeets, E., Leonard, H. & Zeev, B. B., 2010, In : Journal of Medical Genetics. 47, 4, p. 242-248

Research output: Contribution to journalArticle

22 Citations (Scopus)

Valproate and risk of fracture in Rett Syndrome

Leonard, H., Downs, J., Jian, L., Bebbington, A., Jacoby, P., Nagarajan, L., Ravine, D. & Woodhead, H., 2010, In : Archives of Disease in Childhood. 95, 6, p. 444-448

Research output: Contribution to journalArticle

2009
6 Citations (Scopus)

Cells of epithelial lineage are present in blood, engraft the bronchial epithelium, and are increased in human lung transplantation

May, L. A., Kicic, A., Rigby, P., Heel, K., Pullen, T., Crook, M., Charles, A., Banerjee, B., Ravine, D., Saxena, A., Musk, M., Stick, S., Chambers, D. & Kicic, A., 2009, In : Journal of Heart and Lung Transplantation. 28, 6, p. 550-557

Research output: Contribution to journalArticle

Lung Transplantation
Cell Lineage
Epithelium
Fluorescence In Situ Hybridization
Microsatellite Repeats
357 Citations (Scopus)

Unified Criteria for Ultrasonographic Diagnosis of ADPKD

Pei, Y., Obaji, J., Dupuis, A., Paterson, A. D., Magistroni, R., Dicks, E., Parfrey, P., Cramer, B., Coto, E., Torra, R., Millan, J. L. S., Gibson, R., Breuning, M., Peters, D. & Ravine, D., 2009, In : Journal of the American Society of Nephrology. 20, 1, p. 205-209

Research output: Contribution to journalArticle

Autosomal Dominant Polycystic Kidney
Cysts
Kidney
Mutation
Genotype
2008
157 Citations (Scopus)

Investigating genotype-phenotype relationships in Rett syndrome using an international data set

Bebbington, A., Anderson, A., Ravine, D., Fyfe, S., Pineda, M., De Klerk, N., Ben-Zeev, B., Yatawara, N., Percy, A., Kaufmann, W. E. & Leonard, H., 2008, In : Neurology. 70, 11, p. 868-875

Research output: Contribution to journalArticle

Rett Syndrome
Genotype
Phenotype
Mutation
Methyl-CpG-Binding Protein 2
33 Citations (Scopus)

MECP2 genomic structure and function: insights from ENCODE

Singh, J., Saxena, A., Christodoulou, J. & Ravine, D., 2008, In : Nucleic Acids Research. 36, p. 6035-6047

Research output: Contribution to journalArticle

Exons
Methyl-CpG-Binding Protein 2
Chromosomes, Human, X
Genes
Untranslated RNA
32 Citations (Scopus)

Noncitrus fruits as novel dietary environmental modifiers of iron stores in people with or without HFE gene mutations

Milward, E. A., Baines, S. K., Knuiman, M., Bartholomew, H., Divitini, M., Ravine, D., Bruce, D. & Olynyk, J., 2008, In : Mayo Clinic Proceedings. 83, 5, p. 543-549

Research output: Contribution to journalArticle

Citrus
Fruit
Iron
Mutation
Genes
2007
65 Citations (Scopus)

Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation

Archer, H., Evans, J., Leonard, H., Colvin, L., Ravine, D., Christodoulou, J., Williamson, S., Charman, T., Bailey, M. E. S., Sampson, J., De Klerk, N. & Clarke, A., 2007, In : Journal of Medical Genetics. 44, 2, p. 148-152

Research output: Contribution to journalArticle

Rett Syndrome
X Chromosome Inactivation
Mutation
Alleles
Leukocytes

Directions for clinical practice improvement in HFE gene mutation testing

Gillett, M. J., Mamotte, C. D., Ravine, D. & Vasikaran, S., 2007, In : Medical Journal of Australia. 187, 6, p. 342-344

Research output: Contribution to journalArticle

Genotype
Mutation
Genes
Clinical Audit
Hospital Laboratories
28 Citations (Scopus)

PKDB: Polycystic Kidney Disease Mutation Database - A gene Variant Database for Autosomal Dominant Polycystic Kidney Disease

Gout, A. M., Martin, N. C., Brown, A. F. & Ravine, D., 2007, In : Human Mutation. 28, 7, p. 654-659

Research output: Contribution to journalArticle

Autosomal Dominant Polycystic Kidney
Polycystic Kidney Diseases
Databases
Mutation
Genes
60 Citations (Scopus)

Seizures in Rett syndrome : an overview from a one-year calendar study

Jian, L., Nagarajan, L., De Klerk, N., Ravine, D., Christodoulou, J. & Leonard, H., 2007, In : European Journal of Paediatric Neurology. 11, 5, p. 310- 317

Research output: Contribution to journalArticle

Rett Syndrome
Seizures
Mutation
Aptitude
Calendars
2006
65 Citations (Scopus)

Early progressive encephalopathy in boys and MECP2 mutations

Kankirawatana, P., Leonard, H., Ellaway, C., Scurlock, J., Mansour, A., Makris, C. M., Dure, L. S., Friez, M., Lane, J., Kiraly-Borri, C., Fabian, V., Davis, M., Jackson, J., Christodoulou, J., Kaufmann, W. E., Ravine, D. & Percy, A. K., 2006, In : Neurology. 67, 1, p. 164-166

Research output: Contribution to journalArticle

Brain Diseases
Respiratory Insufficiency
Mutation
Rett Syndrome
Failure to Thrive
58 Citations (Scopus)

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients

Archer, H. L., Whatley, S. D., Evans, J. C., Ravine, D., Huppke, P., Kerr, A., Bunyan, D., Kerr, B., Sweeney, E., Davies, S. J., Reardon, W., Horn, J., Macdermot, K. D., Smith, R. A., Magee, A., Donaldson, A., Crow, Y., Hermon, G., Miedzybrodzka, Z., Cooper, D. N. & 6 othersLazarou, L., Butler, R., Sampson, J., Pilz, D. T., Laccone, F. & Clarke, A. J., 2006, In : Journal of Medical Genetics. 43, 5, p. 451-456

Research output: Contribution to journalArticle

Gene Rearrangement
Rett Syndrome
Mutation
Molecular Pathology
Multiplex Polymerase Chain Reaction
43 Citations (Scopus)

Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients

Mccune, C. A., Ravine, D., Carter, K., Jackson, H. A., Hutton, D., Hedderich, J., Krawczak, M. & Worwood, M., 2006, In : Gut. 55, 4, p. 554-562

Research output: Contribution to journalArticle

Homozygote
Population Genetics
Genetic Testing
Iron
Morbidity
21 Citations (Scopus)

Lost in translation: translational interference from a recurrent mutation in exon 1 of MECP2

Saxena, A., De Lagarde, D., Leonard, H., Williamson, S. L., Vasudevan, V., Christodoulou, J., Thompson, E., Macleod, P. & Ravine, D., 2006, In : Journal of Medical Genetics. 43, 6, p. 470-477

Research output: Contribution to journalArticle

Exons
Mutation
Methyl-CpG-Binding Protein 2
Rett Syndrome
Nucleotides
35 Citations (Scopus)

NTNG1 mutations are a rare cause of Rett Syndrome

Archer, H. L., Evans, J. C., Millar, D. S., Thompson, P. W., Kerr, A. M., Leonard, H., Christodoulou, J., Ravine, D., Lazarou, L., Grove, L., Verity, C., Whatley, S. D., Pilz, D. T., Sampson, J. R. & Clarke, A. J., 2006, In : American Journal of Medical Genetics Part A. 140A, 7, p. 691-94

Research output: Contribution to journalArticle

Rett Syndrome
Mutation
Proteins
Seizures
Genes
61 Citations (Scopus)

Predictors of Seizure Onset in Rett Syndrome

Jian, L., Nagarajan, L., De Klerk, N., Ravine, D., Bower, C., Anderson, A., Williamson, S., Christodoulou, J. & Leonard, H., 2006, In : The Journal of Pediatrics. 149, 4, p. 542-547

Research output: Contribution to journalArticle

Rett Syndrome
Seizures
Age of Onset
Genotype
Databases
197 Citations (Scopus)

Rett Syndrome in Australia: A Review of the Epidemiology

Laurvick, C. L., De Klerk, N., Bower, C., Christodoulou, J., Ravine, D., Ellaway, C., Williamson, S. & Leonard, H., 2006, In : The Journal of Pediatrics. 148, p. 347-352

Research output: Contribution to journalArticle

Rett Syndrome
Epidemiology
Survival
Incidence
Mutation
2005
3 Citations (Scopus)

Effectiveness of posthumous molecular diagnosis from a kept baby tooth

Leonard, H., Davis, M. R., Turbett, G. R., Laing, N., Bower, C. & Ravine, D., 2005, In : The Lancet. 366, p. 1584

Research output: Contribution to journalArticle

16 Citations (Scopus)

Familial hypercholesterolaemia: a look back, a look ahead

Burnett, J., Ravine, D., Van Bockxmeer, F. & Watts, G., 6 Jun 2005, In : Medical Journal of Australia. 182, 11, p. 552-553 2 p.

Research output: Contribution to journalArticle

25 Citations (Scopus)

p.R270X MECP2 mutation and mortality in Rett syndrome

Jian, L., Archer, H. L., Ravine, D., Kerr, A., De Klerk, N., Christodoulou, J., Bailey, M. E. S., Laurvick, C. & Leonard, H., 2005, In : European Journal of Human Genetics. 13, 11, p. 1-4

Research output: Contribution to journalArticle

Rett Syndrome
Mutation
Mortality
Nonsense Codon
Observation
2004
25 Citations (Scopus)

Large Deletions in the Polycystic Kidney Disease 1 (PKD1) Gene

Ariyurek, Y., Leeuwen, I. L., Spruit, L., Ravine, D., Breuning, M. H. & Peters, D. J. M., 2004, In : Human Mutation. 23, 1, p. 99

Research output: Contribution to journalArticle

Polycystic Kidney Diseases
Autosomal Dominant Polycystic Kidney
Tuberous Sclerosis
Genes
Introns
70 Citations (Scopus)

Large Deletions of the MECP2 Gene Detected by Gene Dosage Analysis in Patients with Rett Syndrome

Laccone, F., Junemann, I., Whatley, S., Morgan, R., Butler, R., Huppke, P. & Ravine, D., 2004, In : Human Mutation. 23, 3, p. 234-244

Research output: Contribution to journalArticle

Rett Syndrome
Gene Dosage
Gene Deletion
Mutation
Polymerase Chain Reaction
41 Citations (Scopus)

Population based study of late onset cerebellar ataxia in south east Wales

Muzaimi, M. B., Thomas, J., Palmer-Smith, S., Rosser, L., Harper, P. S., Wiles, C. M., Ravine, D. & Robertson, N. P., 2004, In : Journal of Neurology, Neurosurgery and Psychiatry. 75, 8, p. 1129-1134

Research output: Contribution to journalArticle

Spinocerebellar Degenerations
Wales
Population
Ataxia
Age of Onset
2003
11 Citations (Scopus)

Breaking new ground with Rett syndrome

Kerr, A. M. & Ravine, D., 2003, In : Journal of Intellectual Disability Research. 47, 8, p. 580-587

Research output: Contribution to journalArticle

Rett Syndrome
Mutation
Genes
Publications
Syndrome
94 Citations (Scopus)

Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease

Magistroni, R., He, N., Wang, K., Andrew, R., Gabow, P., Dicks, E., Parfrey, P., Torra, R., San-Millan, J. L., Coto, E., Van Dijk, M., Breuning, M., Peters, D., Bogdanova, N., Ligabue, G., Albetazzi, A., Hateboer, N., Demetriou, K., Pierides, A., Deltas, C. & 4 othersSt. George-Hyslop, P., Ravine, D., Pei, Y. & Johnson, A., 2003, In : Journal of the American Society of Nephrology. 14, 5, p. 1164-1174

Research output: Contribution to journalArticle

Autosomal Dominant Polycystic Kidney
Chronic Kidney Failure
Genotype
Kidney
Mutation
15 Citations (Scopus)

Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome

Gill, H., Cheadle, J. P., Maynard, J., Fleming, N., Whatley, S., Cranston, T., Thompson, E. M., Leonard, H., Davis, M., Christodoulou, J., Skjeldal, O., Hanefeld, F., Kerr, A., Tandy, A., Ravine, D. & Clarke, A., 2003, In : Journal of Medical Genetics. 40, 5, p. 380-384

Research output: Contribution to journalArticle

22 Citations (Scopus)

Screening for hereditary haemochromatosis within families and beyond

Mccune, C. A., Ravine, D., Worwood, M., Jackson, H. A., Evans, H. M. & Hutton, D., 2003, In : The Lancet. 362, 9399, p. 1897-1898

Research output: Contribution to journalArticle

Hemochromatosis
Blood Donors
Iron Overload
Genetic Testing
Costs and Cost Analysis
2002
23 Citations (Scopus)

Episodic ataxia type 2 - Three novel truncating mutations and one novel missense mutation in the CACNA1A gene

Van Den Maagdenberg, A. M. J. M., Kors, E. E., Brunt, E. R., Van Paesschen, W., Pascual, J., Ravine, D., Keeling, S., Vanmolkot, K. R. J., Vermeulen, F. L. M. G., Terwindt, G. M., Haan, J., Frants, R. R. & Ferrari, M. D., 2002, In : Journal of Neurology. 249, p. 1515-1519

Research output: Contribution to journalArticle

Missense Mutation
Mutation
Genes
Chromosomes, Human, Pair 13
Reading Frames
2001
22 Citations (Scopus)

Confirmation of a gene locus for medullary cystic kidney disease (MCKD2) on chromosome 16p12

Hateboer, N., Gumbs, C., Teare, M. D., Coles, G. A., Griffiths, D., Ravine, D., Futreal, P. A. & Rahman, N., 2001, In : Kidney International. 60, p. 1233-1239

Research output: Contribution to journalArticle

Cystic Kidney Diseases
Chromosomes
Genes
Hyperuricemia
Gout
178 Citations (Scopus)

HFE mutations, iron deficiency and overload in 10 500 blood donors

Jackson, H. A., Carter, K., Darke, C., Guttridge, M. G., Ravine, D., Hutton, R. D., Napier, J. A. & Worwood, M., 2001, In : British Journal of Haematology. 114, p. 474-484

Research output: Contribution to journalArticle

Iron Overload
Blood Donors
Heterozygote
Tissue Donors
Ferritins