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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

Volltextzugriff (PDF)

The impact of Marfan syndrome on an Aboriginal Australian family: ‘I don’t like it as much as I don’t like cancer

Journal of genetic counseling, 2022-06, Vol.31 (3), p.620-630

2022

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

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

2022

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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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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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

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

2016

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

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

2020

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

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

2022

Volltextzugriff (PDF)

Queensland Consumers’ Awareness and Understanding of Clinical Genetics Services

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

2020

Volltextzugriff (PDF)

Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum

American journal of medical genetics. Part A, 2017-06, Vol.173 (6), p.1698-1704

2017

Volltextzugriff (PDF)

The Future of Precision Prevention for Advanced Melanoma

Frontiers in medicine, 2022-01, Vol.8, p.818096-818096

2022

Volltextzugriff (PDF)

A KCNK16 mutation causing TALK-1 gain of function is associated with maturity-onset diabetes of the young

JCI insight, 2021-07, Vol.6 (13)

2021

Volltextzugriff (PDF)

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

European journal of human genetics : EJHG, 2024-03

2024

Volltextzugriff (PDF)

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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

The impact of Marfan syndrome on an Aboriginal Australian family: ‘I don’t like it as much as I don’t like cancer

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

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

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

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

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

Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrum

The Future of Precision Prevention for Advanced Melanoma

A KCNK16 mutation causing TALK-1 gain of function is associated with maturity-onset diabetes of the young

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

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