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A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD‐Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis

Journal of bone and mineral research, 2020-01, Vol.35 (1), p.92-105

2020

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MITF E318K: A rare homozygous case with multiple primary melanoma

Pigment cell and melanoma research, 2024-01, Vol.37 (1), p.68-73

2024

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Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism

Journal of bone and mineral research, 2023-05, Vol.38 (5), p.678-691

2023

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Amelanotic/hypopigmented melanoma in a sibship with oculocutaneous albinism

Journal of dermatology, 2022-11, Vol.49 (11), p.1183-1187

2022

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Comprehensive genetic screening: The prevalence of maturity‐onset diabetes of the young gene variants in a population‐based childhood diabetes cohort

Pediatric diabetes, 2019-02, Vol.20 (1), p.57-64

2019

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Use of the arm‐span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically challenging

American journal of medical genetics. Part A, 2020-04, Vol.182 (4), p.829-830

2020

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Measurable outcomes of consumer engagement in health research: A scoping review

Frontiers in public health, 2022-10, Vol.10, p.994547-994547

2022

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Multiple Endocrine Tumors Associated with Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5?

The journal of clinical endocrinology and metabolism, 2021-04, Vol.106 (4), p.1163-1182

2021

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Protocol to evaluate a pilot program to upskill clinicians in providing genetic testing for familial melanoma

PloS one, 2022-12, Vol.17 (12), p.e0275926-e0275926

2022

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Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls

Frontiers in endocrinology (Lausanne), 2021-02, Vol.11, p.628946-628946

2021

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Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60

American journal of human genetics, 2013-09, Vol.93 (3), p.515-523

2013

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A Systematic Review on the Impact of Genetic Testing for Familial Melanoma I: Primary and Secondary Preventative Behaviours

Dermatology (Basel), 2021-01, Vol.237 (5), p.806

2021

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A Systematic Review on the Impact of Genetic Testing for Familial Melanoma II: Psychosocial Outcomes and Attitudes

Dermatology (Basel), 2021-01, Vol.237 (5), p.816

2021

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Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants

PloS one, 2020-09, Vol.15 (9), p.e0238529-e0238529

2020

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Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome

Molecular genetics & genomic medicine, 2020-03, Vol.8 (3), p.e1116-n/a

2020

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The ATM Ser49Cys Variant Effects ATM Function as a Regulator of Oncogene-Induced Senescence

International journal of molecular sciences, 2024-02, Vol.25 (3), p.1664

2024

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Factors influencing cancer genetic somatic mutation test ordering by cancer physician

Journal of translational medicine, 2020-11, Vol.18 (1), p.431-431, Article 431

2020

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Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families

Human mutation, 2016-07, Vol.37 (7), p.695-702

2016

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The emerging field of polygenic risk scores and perspective for use in clinical care

Human molecular genetics, 2020-10, Vol.29 (R2), p.R165-R176

2020

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Community input in a genomic health implementation program: Perspectives of a community advisory group

Frontiers in genetics, 2022-07, Vol.13, p.892475-892475

2022

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Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas

Clinical endocrinology (Oxford), 2014-01, Vol.80 (1), p.25-33

2014

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Causal Attributions in an Australian Aboriginal Family With Marfan Syndrome: A Qualitative Study

Frontiers in genetics, 2020-05, Vol.11, p.461-461

2020

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Attitudes of Australian dermatologists on the use of genetic testing: A cross-sectional survey with a focus on melanoma

Frontiers in genetics, 2022-10, Vol.13, p.919134-919134

2022

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Evaluation of a Genetics Education Program for Health Interpreters: A Pilot Study

Frontiers in genetics, 2022-02, Vol.12, p.771892-771892

2022

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Queensland Consumers’ Awareness and Understanding of Clinical Genetics Services

Frontiers in genetics, 2020-10, Vol.11, p.537743-537743

2020

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A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD‐Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis

MITF E318K: A rare homozygous case with multiple primary melanoma

Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism

Amelanotic/hypopigmented melanoma in a sibship with oculocutaneous albinism

Comprehensive genetic screening: The prevalence of maturity‐onset diabetes of the young gene variants in a population‐based childhood diabetes cohort

Use of the arm‐span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically challenging

Measurable outcomes of consumer engagement in health research: A scoping review

Multiple Endocrine Tumors Associated with Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5?

Protocol to evaluate a pilot program to upskill clinicians in providing genetic testing for familial melanoma

Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls

Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60

A Systematic Review on the Impact of Genetic Testing for Familial Melanoma I: Primary and Secondary Preventative Behaviours

A Systematic Review on the Impact of Genetic Testing for Familial Melanoma II: Psychosocial Outcomes and Attitudes

Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants

Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome

The ATM Ser49Cys Variant Effects ATM Function as a Regulator of Oncogene-Induced Senescence

Factors influencing cancer genetic somatic mutation test ordering by cancer physician

Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families

The emerging field of polygenic risk scores and perspective for use in clinical care

Community input in a genomic health implementation program: Perspectives of a community advisory group

Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas

Causal Attributions in an Australian Aboriginal Family With Marfan Syndrome: A Qualitative Study

Attitudes of Australian dermatologists on the use of genetic testing: A cross-sectional survey with a focus on melanoma

Evaluation of a Genetics Education Program for Health Interpreters: A Pilot Study

Queensland Consumers’ Awareness and Understanding of Clinical Genetics Services

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