List of works - Michael T Gabbett

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.

scientific article published on 7 December 2017

A second case of severe mental retardation and absent nails of hallux and pollex (Temple–Baraitser syndrome)

scientific article published on 01 February 2008

Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.

scientific article

Aicardi syndrome associated with hepatoblastoma and pulmonary sequestration.

scientific article published in August 2009

Characteristics of Queensland physicians and the influence of rural exposure on practice location

scientific article published on August 2016

Characterizing the oculoauriculofrontonasal syndrome.

scientific article published on April 2008

Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.

scientific article published on 18 February 2015

Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome

scientific article published on 27 June 2016

Further delineation of the KAT6B molecular and phenotypic spectrum

scientific article

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

scientific article published on 11 October 2013

Human Genetics Society of Australasia Position Statement: Genetic Testing and Personal Insurance Products in Australia

scientific article published on 21 November 2018

Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis

article

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

scientific article published on 22 December 2015

Molecular Support for Heterogonesis Resulting in Sesquizygotic Twinning

scientific article published on 28 February 2019

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

scientific article

Mutation update for the PORCN gene.

scientific article published on 21 June 2011

Neonatal severe hyperparathyroidism: an important clue to the aetiology

scientific article published on 01 December 2006

Obituary: A/Prof John MacMillan (1959-2014).

scientific article

Prader-Willi syndrome phenocopy due to duplication of Xq21.1-q21.31, with array CGH of the critical region.

scientific article published on 13 February 2008

The oculoauriculovertebral spectrum: Refining the estimate of birth prevalence

scientific article published on June 2012

Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic.

scientific article published on 9 May 2014

Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism

scientific article

List of works by Michael T Gabbett

A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.

A second case of severe mental retardation and absent nails of hallux and pollex (Temple–Baraitser syndrome)

Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.

Aicardi syndrome associated with hepatoblastoma and pulmonary sequestration.

Characteristics of Queensland physicians and the influence of rural exposure on practice location

Characterizing the oculoauriculofrontonasal syndrome.

Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.

Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome

Further delineation of the KAT6B molecular and phenotypic spectrum

Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

Human Genetics Society of Australasia Position Statement: Genetic Testing and Personal Insurance Products in Australia

Human Genetics Society of Australasia Position Statement: Population-Based Carrier Screening for Cystic Fibrosis

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

Molecular Support for Heterogonesis Resulting in Sesquizygotic Twinning

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations

Mutation update for the PORCN gene.

Neonatal severe hyperparathyroidism: an important clue to the aetiology

Obituary: A/Prof John MacMillan (1959-2014).

Prader-Willi syndrome phenocopy due to duplication of Xq21.1-q21.31, with array CGH of the critical region.

The oculoauriculovertebral spectrum: Refining the estimate of birth prevalence

Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic.

Wilms' tumor and novel TRIM37 mutations in an Australian patient with mulibrey nanism