D. Ravine

D. Ravine, P. Rigby, S. Stick, 2009, The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation.

X-linked recessive panhypopituitarism associated with a regional duplication in Xq25-q26.

U. Landegren, M. Sundvall, U. Pettersson, 1997, American journal of human genetics.

Prenatal diagnosis for facioscapulohumeral muscular dystrophy (FSHD)

M. Upadhyaya, D. Ravine, Moira Macdonald, 1999, Prenatal diagnosis.

NTNG1 mutations are a rare cause of Rett syndrome

A. Clarke, D. Pilz, J. Christodoulou, 2006, American journal of medical genetics. Part A.

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

J. Christodoulou, H. Leonard, D. Ravine, 2007, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Early progressive encephalopathy in boys and MECP2 mutations

W. Kaufmann, M. Friez, J. Christodoulou, 2006, Neurology.

Gene symbol: PKD1 Disease: Polycystic kidney disease

F. Davies, G. Coles, D. Ravine, 1998, Human Genetics.

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

H. Lu, H. Leonard, D. Ravine, 2012, Clinical genetics.

Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate.

A. Wilkie, D. Stephens, D. Ravine, 1997, American journal of medical genetics.

Chromosome 2 interstitial deletion (del(2)(q14.1q21)) associated with connective tissue laxity and an attention deficit disorder

M. Upadhyaya, D. Ravine, T. Cole, 2001, Journal of medical genetics.

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

W. Reardon, D. Cooper, Y. Crow, 2005, Journal of Medical Genetics.

Discussion of the role of hemochromatosis susceptibility gene mutation in protecting against iron deficiency in celiac disease.

D. Ravine, C. Darke, 2003, Gastroenterology.

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

W. Kaufmann, H. Leonard, D. Ravine, 2008, Neurology.

Automated mutation analysis

D. Ravine, 1999, Journal of Inherited Metabolic Disease.

Genetic inheritance of susceptibility to tinea imbricata.

M. Alpers, D. Ravine, K. Turner, 1980, Journal of medical genetics.

Nevoid basal cell carcinoma syndrome: review of 118 affected individuals.

E. Haan, G. Chenevix-Trench, S. Shanley, 1994, American journal of medical genetics.

Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families: linkage and loss of heterozygosity.

E. Haan, G. Chenevix-Trench, D. Ravine, 1993, American journal of human genetics.

Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach

C. Claudianos, D. Ravine, J. An, 2014, Translational Psychiatry.

Rett syndrome in Australia: a review of the epidemiology.

Carol Bower, J. Christodoulou, H. Leonard, 2006, The Journal of pediatrics.

Adult-onset genetic disease: mechanisms, analysis and prediction.

D. Cooper, D. Ravine, 1997, QJM : monthly journal of the Association of Physicians.

Correlation between clinical severity in patients with Rett syndrome with a p . R 168 X or p . T 158 M MECP 2 mutation , and the direction and degree of skewing of X-chromosome inactivation

T. Charman, A. Clarke, J. Christodoulou, 2007 .

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

T. Charman, A. Clarke, J. Christodoulou, 2006, Journal of Medical Genetics.

p.R270X MECP2 mutation and mortality in Rett syndrome

J. Christodoulou, H. Leonard, D. Ravine, 2005, European Journal of Human Genetics.

Human Cytogenetics Database

D. Ravine, M. Creasy, 1994 .

SNP-based arrays complement classic cytogenetics in the detection of chromosomal aberrations in Wilms' tumor.

D. Ravine, A. Charles, P. Waring, 2012, Cancer genetics.

Are there differences in the behavioural phenotypes of Autism Spectrum Disorder probands from simplex and multiplex families

M. Maybery, D. Ravine, A. Whitehouse, 2015 .

Unified criteria for ultrasonographic diagnosis of ADPKD.

A. Paterson, E. Coto, P. Parfrey, 2009, Journal of the American Society of Nephrology : JASN.

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

Ann M. Johnson, P. S. St George-Hyslop, E. Coto, 2003, Journal of the American Society of Nephrology : JASN.

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

J. Christodoulou, H. Leonard, D. Ravine, 2005, Journal of Medical Genetics.

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.

D. Cooper, M. Krawczak, A. Clarke, 2000, Human molecular genetics.

Comparison of phenotypes of polycystic kidney disease types 1 and 2

E. Coto, M. Breuning, D. Ravine, 1999, The Lancet.

Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene.

E. Haan, P. Harris, D. Ravine, 1997, American journal of human genetics.

Growth in Sotos syndrome

D. Ravine, T. Cole, N. Shaw, 1999, Archives of disease in childhood.

Large deletions of the MECP2 gene detected by gene dosage analysis in patients with Rett syndrome

P. Huppke, D. Ravine, R. Morgan, 2004, Human mutation.

Development and Validation of a Family History Screening Questionnaire in Australian Primary Care

J. Emery, D. Ravine, F. Walter, 2014, The Annals of Family Medicine.

Predictors of seizure onset in Rett syndrome.

J. Christodoulou, H. Leonard, D. Ravine, 2006, The Journal of pediatrics.

Reinforcing the association between distal 1q CNVs and structural brain disorder: A case of a complex 1q43‐q44 CNV and a review of the literature

A. Forrest, K. Woodward, D. Ravine, 2016, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

A review of structural brain abnormalities in Pallister‐Killian syndrome

J. Beilby, K. Woodward, G. Baynam, 2017, Molecular genetics & genomic medicine.

Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease

R. R. Frants, R. Fossdal, L. Sandkuijl, 1993, Nature Genetics.

MECP2 genomic structure and function: insights from ENCODE

J. Christodoulou, D. Ravine, A. Saxena, 2008, Nucleic acids research.

Improved molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD): validation of the differential double digestion for FSHD.

P. Harper, M. Upadhyaya, J. Maynard, 1997, Journal of Medical Genetics.

Quality standards and samples in genetic testing

D. Ravine, G. Suthers, 2012, Journal of Clinical Pathology.

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

M. Krawczak, M. Worwood, D. Hutton, 2005, Gut.

, patients in both classical and atypical Rett syndrome gene are foundMECP 2 Gross rearrangements

W. Reardon, D. Cooper, Y. Crow, 2006 .

, in both classical and atypical Rett Syndrome Gross rearrangements of the MECP 2 gene are found

W. Reardon, D. Cooper, Y. Crow, 2005 .

Sporadic case of fatal encephalopathy with neonatal onset associated with a T158M missense mutation in MECP2

D. Ravine, S. Sinha, S. Lynch, 2003, Archives of disease in childhood. Fetal and neonatal edition.

A spectrum of mutations in the second gene for autosomal dominant polycystic kidney disease (PKD2).

R. Fossdal, E. Coto, S. Somlo, 1997, American journal of human genetics.

Association of the angiotensin I converting enzyme gene deletion polymorphism with early onset of ESRF in PKD1 adult polycystic kidney disease.

P. Holmans, D. Ravine, John D. Williams, 1997, Kidney international.

Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease

R. Richards, D. Ravine, L. Sheffield, 1992, The Lancet.

The diagnosis of autism in a female: could it be Rett syndrome?

D. Young, W. Kaufmann, H. Leonard, 2008, European Journal of Pediatrics.

Brief Report: Do the Nature of Communication Impairments in Autism Spectrum Disorders Relate to the Broader Autism Phenotype in Parents?

M. Maybery, D. Ravine, A. Whitehouse, 2013, Journal of autism and developmental disorders.

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

F. Hanefeld, A. Clarke, J. Christodoulou, 2003, Journal of medical genetics.

High use of complementary and alternative medication among children with autism is not associated with the severity of core symptoms

D. Ravine, A. Whitehouse, J. Granich, 2014 .

Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

T. Matsuishi, A. Clarke, J. Christodoulou, 2003, Journal of medical genetics.

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

T. Charman, A. Clarke, H. Leonard, 2006 .

Novel and recurrent mutations in the PKD1 (Polycystic Kidney disease) gene

F. Davies, G. Coles, D. Ravine, 1998, Human Genetics.

Familial phenotype differences in PKD11.

P. Holmans, D. Ravine, A. Williams, 1999, Kidney international.

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

N. Rahman, P. Futreal, C. Gumbs, 2001, Kidney international.

Managing Incidental Findings on Abdominal CT: White Paper of the ACR Incidental Findings Committee

Yoshimura, Donlan, Arai, 2017 .

PKDB: Polycystic Kidney Disease Mutation Database—a gene variant database for autosomal dominant polycystic kidney disease

D. Ravine, A. Gout, N. Martin, 2007, Human mutation.

Large deletions in the polycystic kidney disease 1 (PKD1) gene

Y. Ariyurek, M. Breuning, D. Peters, 2004, Human mutation.

Location of mutations within the PKD2 gene influences clinical outcome.

D Ravine, M Krawczak, M. Krawczak, 2000, Kidney international.

Brief Report: Do the Nature of Communication Impairments in Autism Spectrum Disorders Relate to the Broader Autism Phenotype in Parents?

M. Maybery, D. Ravine, A. Whitehouse, 2013, Journal of Autism and Developmental Disorders.

Dominant inheritance of optic pits.

A. Wilkie, D. Ravine, N. Ragge, 1998, American journal of ophthalmology.

Co-occurrence of autosomal dominant polycystic kidney disease and Marfan syndrome in a kindred.

M. Buchalter, S. Davies, D. Ravine, 2000, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Maternal Family History of Diabetes Is Associated With a Reduced Risk of Cardiovascular Disease in Women With Type 2 Diabetes

D. Ravine, T. Davis, W. Davis, 2010, Diabetes Care.

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

W. van Paesschen, M. Ferrari, D. Ravine, 2002, Journal of neurology.

Linkage and Loss of Heterozygosity

G. Chenevix-Trench, D. Ravine, D. Goldgar, 2006 .

Review article: breaking new ground with Rett syndrome.

D. Ravine, A. Kerr, D. Ravine, 2003, Journal of intellectual disability research : JIDR.

Valproate and risk of fracture in Rett syndrome

H. Leonard, D. Ravine, P. Jacoby, 2010, Archives of Disease in Childhood.

Non-specific elevation of immunoreactive trypsinogen in sick infants

D. Ravine, D. Danks, R. Francis, 1993, European Journal of Pediatrics.