Dr Michael Gabbett (Clinical Geneticist)
- Name
- Assoc Prof Michael T Gabbett
- Qualifications
- MBBS University of Queensland 1997
- MMedSc(ClinEpid) University of Newcastle 2006
- MHM University of New South Wales 2018
- FRACP Royal Australasian College of Physicians 2005
- AFRACMA Royal Australasian College of Medical Administrators 2005
- Occupation
- Clinical Geneticist
- Gender
- Male
- Languages Spoken
- English
- Medical Specialties
- Clinical Genetics
- Links
- https://mendelgenetics.au
- https://staff.qut.edu.au/staff/michael.gabbett
- Phone
- 07 3193 7780
- Fax
- 07 3540 8157
- Telehealth
- Zoom: Phone bookings - 07 3193 7780
Associate Professor Michael Gabbett is one of Australia’s leading clinical geneticists. He welcomes referrals to see patients for all medical genetic reasons, including: • Paediatric developmental delay and dysmorphology assessment • Prenatal genetics and reproductive genetic counselling • Known or suspected genetic diagnosis • Personal or family history of cancer
- Affiliated Universities
- Queensland University of Technology
- Griffith University
- University of Queensland
- Postal Address
Social Media
|
|
https://www.facebook.com/TheMendelInstitute |
|---|
Practice Locations
QLD
- Gold Coast Private Hospital
- Address
- Gold Coast Private Hospital
Suite 11 Ground Floor
14 Hill Street
Southport QLD 4215
Australia
- Phone
- 07 3193 7780
- Fax
- 07 3540 8157
Publications
- Waiting for a diagnosis in Rubinstein-Taybi: The journey from "ignorance is bliss" to the value of "a label" https://doi.org/10.1002/ajmg.a.61920
- An Infantile Feature of Jansen Metaphyseal Chondrodysplasia? https://doi.org/10.1002/ajmg.a.61494
- Molecular Support for Heterogonesis Resulting in Sesquizygotic Twinning https://doi.org/10.1056/NEJMoa1701313
- Speciality Training. In The Australian Medicine Careers Guide https://www.federationpress.com.au/bookstore/book.asp?isbn=9781760021672
- Human Genetics Society of Australasia Position Statement: Genetic Testing and Personal Insurance Products in Australia https://doi.org/10.1017/thg.2018.60
- A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations https://doi.org/10.1038/gim.2017.214
- Characteristics of Queensland physicians and the influence of rural exposure on practice location https://doi.org/10.1111/imj.13156
- PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution https://doi.org/10.1172/jci.insight.87623
- Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome https://doi.org/10.1002/ajmg.a.37803
- Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or ‘classical’ congenital myopathy https://doi.org/10.1093/brain/awv352
- A protocol for the identification and validation of novel genetic causes of kidney disease https://doi.org/10.1186/s12882-015-0148-8
- Obituary: A/Prof John MacMillan (1959-2014) https://doi.org/10.1017/thg.2015.4
- Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA https://doi.org/10.1007/s00109-015-1261-7
- Human Genetics Society of Australasia position statement: population-based carrier screening for cystic fibrosis. Human Genetics Society of Australasia https://doi.org/10.1017/thg.2014.65
- Further delineation of the KAT6B molecular and phenotypic spectrum https://doi.org/10.1038/ejhg.2014.248
- Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy https://doi.org/10.1038/ng.3153
- Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic https://doi.org/10.3390/children1010021
- Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients https://doi.org/10.1002/ajmg.c.31378
- Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome https://doi.org/0.1038/ejhg.2012.117
- The oculoauriculovertebral spectrum: refining the estimate of birth prevalence https://doi.org/10.3233/PGE-2012-014
- Mutation update for the PORCN gene https://doi.org/10.1002/humu.21505
- Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay https://doi.org/10.1002/humu.21457
- Temple-Baraitser syndrome: A rare and possibly unrecognized condition https://doi.org/10.1002/ajmg.a.33574
- Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations https://doi.org/10.1002/humu.21328
- Future Developments in Newborn Metabolic and Genetic Screening. In Newborn Screening Systems: The Complete Perspective https://www.pluralpublishing.com/publications/newborn-screening-systems-the-complete-perspective
- Septo-optic dysplasia and associations with amyoplasia and gastroschisis https://doi.org/10.1002/bdra.20663
- Aicardi syndrome associated with hepatoblastoma and pulmonary sequestration https://doi.org/10.1002/ajmg.a.32985
- Characterizing the oculoauriculofrontonasal syndrome https://doi.org/10.1097/MCD.0b013e3282f449c8
- Prader-Willi syndrome phenocopy due to duplication of Xq21.1-q21.31, with array CGH of the critical region https://doi.org/10.1111/j.1399-0004.2007.00960.x
- A second case of severe mental retardation and absent nails of hallux and pollex (Temple-Baraitser syndrome) https://doi.org/10.1002/ajmg.a.32129
- Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism https://doi.org/10.1111/j.1399-0004.2006.00700.x
- Neonatal severe hyperparathyroidism: an important clue to the aetiology https://doi.org/10.1111/j.1440-1754.2006.00983.x
