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Assessing genomics confidence and learning needs in Australian nurses and midwives: an educational program evaluation

Frontiers in genetics, 2024-07, Vol.15, p.1419302

2024

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Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

Nature genetics, 2015-01, Vol.47 (1), p.73-77

2015

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Molecular Support for Heterogonesis Resulting in Sesquizygotic Twinning

The New England journal of medicine, 2019-02, Vol.380 (9), p.842-849

2019

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The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates

European journal of human genetics : EJHG, 2024-03

2024

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Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency

Journal of allergy and clinical immunology, 2021-08, Vol.148 (2), p.381-393

2021

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

Brain (London, England : 1878), 2016-03, Vol.139 (Pt 3), p.674-691

2016

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

Twin research and human genetics, 2018-12, Vol.21 (6), p.533-537

2018

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Severe hypertension—An infantile feature of Jansen metaphyseal chondrodysplasia?

American journal of medical genetics. Part A, 2020-04, Vol.182 (4), p.768-772

2020

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Obituary: A/Prof John MacMillan (1959–2014)

Twin research and human genetics, 2015-04, Vol.18 (2), p.225-225

Gabbett, Michael T.

2015

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Waiting for a diagnosis in Rubinstein–Taybi: The journey from “ignorance is bliss” to the value of “a label”

American journal of medical genetics. Part A, 2021-01, Vol.185 (1), p.105-111

2021

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Mutation update for the PORCN gene

Human mutation, 2011-07, Vol.32 (7), p.723-728

2011

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Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome

American journal of medical genetics. Part A, 2016-10, Vol.170A (10), p.2694-2697

2016

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Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay

Human mutation, 2011-04, Vol.32 (4), p.E2069-E2078

2011

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Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

Nature genetics, 2015-03, Vol.47 (3), p.304-304

2015

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The oculoauriculovertebral spectrum: Refining the estimate of birth prevalence

Journal of pediatric genetics (Birmingham, Ala.), 2012-06, Vol.1 (2), p.071-077

Gabbett, Michael T.

2012

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

American journal of medical genetics. Part A, 2008-02, Vol.146A (4), p.450-452

2008

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Temple–Baraitser syndrome: A rare and possibly unrecognized condition

American journal of medical genetics. Part A, 2010-09, Vol.152A (9), p.2322-2326

2010

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Characterizing the oculoauriculofrontonasal syndrome

Clinical dysmorphology, 2008-04, Vol.17 (2), p.79-85

2008

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Neonatal severe hyperparathyroidism: An important clue to the aetiology

Journal of paediatrics and child health, 2006-12, Vol.42 (12), p.813-816

2006

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Erratum: Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

Nature genetics, 2015-02, Vol.47 (3), p.304-304

2015

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

Clinical genetics, 2008-04, Vol.73 (4), p.353-359

2008

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American Journal of Medical Genetics. Part A

American journal of medical genetics. Part A, 2010, p.2322-6

2010

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INSTRUCTIVE CASE: Neonatal severe hyperparathyroidism: An important clue to the aetiology

Journal of paediatrics and child health, 2006-12, Vol.42 (12), p.813

2006

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

American Journal of Medical Genetics Part A, 2008, Vol.146A (4), p.450-452

2008

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Temple-Baraitser syndrome: A rare and possibly unrecognized condition

American Journal of Medical Genetics Part A, 2010, Vol.152A (9), p.2322-2326

2010

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Assessing genomics confidence and learning needs in Australian nurses and midwives: an educational program evaluation

Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

Molecular Support for Heterogonesis Resulting in Sesquizygotic Twinning

The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominates

Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency

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

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

Severe hypertension—An infantile feature of Jansen metaphyseal chondrodysplasia?

Obituary: A/Prof John MacMillan (1959–2014)

Waiting for a diagnosis in Rubinstein–Taybi: The journey from “ignorance is bliss” to the value of “a label”

Mutation update for the PORCN gene

Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome

Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay

Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

The oculoauriculovertebral spectrum: Refining the estimate of birth prevalence

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

Temple–Baraitser syndrome: A rare and possibly unrecognized condition

Characterizing the oculoauriculofrontonasal syndrome

Neonatal severe hyperparathyroidism: An important clue to the aetiology

Erratum: Corrigendum: Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

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

American Journal of Medical Genetics. Part A

INSTRUCTIVE CASE: Neonatal severe hyperparathyroidism: An important clue to the aetiology

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

Temple-Baraitser syndrome: A rare and possibly unrecognized condition

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