List of works - Aideen M McInerney-Leo

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

scientific article published on 14 November 2019

A rare SMAD9 mutation identifies the BMP signalling pathway as a potential osteoanabolic target

Australian human research ethics committee members’ confidence in reviewing genomic research applications

scientific article published on 26 August 2021

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

scientific article

BRCA1/2 testing in hereditary breast and ovarian cancer families II: impact on relationships.

scientific article

BRCA1/2 testing in hereditary breast and ovarian cancer families III: Risk perception and screening

scientific article published on 01 October 2006

BRCA1/2 testing in hereditary breast and ovarian cancer families: effectiveness of problem-solving training as a counseling intervention

scientific article published in October 2004

CDKN2A testing threshold in a high-risk Australian melanoma cohort: number of primaries, family history and young age of onset impact risk

scientific article published on 09 May 2020

COL1A1C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?

scientific article published on 15 August 2014

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

scientific article published on 07 May 2020

Clinical and positron emission tomography of Parkinson's disease caused by LRRK2.

scientific article published in March 2005

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

scientific article published on 16 January 2020

Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.

scientific article published on 24 October 2014

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

scientific article published on 14 November 2018

Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation

scientific article

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

scientific article

Evaluation of the efficacy of 3D total-body photography with sequential digital dermoscopy in a high-risk melanoma cohort: protocol for a randomised controlled trial

scientific article published on 10 November 2019

Factors Associated with Parental Adaptation to Children with an Undiagnosed Medical Condition

scientific article published on 30 December 2016

Factors influencing cancer genetic somatic mutation test ordering by cancer physician

scientific article published on 12 November 2020

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

scientific article published on April 2016

Genetic testing in Parkinson's disease

scientific article published in January 2005

Genetic testing in Parkinson's disease

scientific article published on 01 July 2005

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

scientific article published on 23 September 2020

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

scientific article published on 04 December 2020

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

scientific article

Low first-trimester PAPP-A in IVF (fresh and frozen-thawed) pregnancies, likely due to a biological cause.

scientific article published on 17 July 2017

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

scientific article published in 2022

Midbrain dopamine and prefrontal function in humans: interaction and modulation by COMT genotype

scientific article published on 10 April 2005

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

scientific article published on 25 December 2020

Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype.

scientific article published on 18 April 2018

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

scientific article published on 11 April 2016

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

scientific journal article

Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function

scientific article published on 20 April 2016

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy

scientific journal article

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

scientific article published in August 2017

OR28-3 A Mutation in KCNK16 Segregating with Autosomal Dominant Non-Ketotic Diabetes Drastically Increases TALK-1 Membrane Current: A Novel Gene for MODY?

scientific article published on 30 April 2019

Parkinsonism among Gaucher disease carriers

scientific article

Point mutation in p14ARF -specific exon 1β of CDKN2A causing familial melanoma and astrocytoma.

scientific article published on 26 December 2017

Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.

scientific article published on 30 October 2018

Prevalence of Parkinson's disease in populations of African ancestry: a review.

scientific article published in July 2004

Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia

scientific article published on 26 February 2015

Queensland Consumers' Awareness and Understanding of Clinical Genetics Services

scientific article published on 15 October 2020

SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies.

scientific article

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60

scientific journal article

The Emerging Field of Polygenic Risk Scores and Perspective for Use in Clinical Care

scientific article published on 03 July 2020

The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V

scientific article

The interplay of sun damage and genetic risk in Australian multiple and single primary melanoma cases and controls

scientific article published on 03 December 2019

The personal touch: does the communication method affect response to melanoma genetic risk?

scientific article published on 01 June 2019

Truth-telling and Turner Syndrome: the importance of diagnostic disclosure

scientific article published on 01 January 2006

Turner syndrome: four challenges across the lifespan

scientific article published on 01 December 2005

Unusual suspects in hereditary melanoma: POT1, POLE, BAP1

scientific article published in 2022

Uptake of invasive prenatal tests in pregnancies conceived via assisted reproductive technologies: the experience in Queensland, Australia.

scientific article published on 8 August 2012

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

scientific article published on 14 January 2020

Waiting for a diagnosis in Rubinstein-Taybi: The journey from "ignorance is bliss" to the value of "a label"

scientific article published on 16 October 2020

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

scientific article published on 25 October 2013

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

scientific article published on 10 December 2014

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome

scientific article published on 04 December 2013

Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism

scientific article published on 8 February 2018

List of works by Aideen M McInerney-Leo

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

A rare SMAD9 mutation identifies the BMP signalling pathway as a potential osteoanabolic target

Australian human research ethics committee members’ confidence in reviewing genomic research applications

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

BRCA1/2 testing in hereditary breast and ovarian cancer families II: impact on relationships.

BRCA1/2 testing in hereditary breast and ovarian cancer families III: Risk perception and screening

BRCA1/2 testing in hereditary breast and ovarian cancer families: effectiveness of problem-solving training as a counseling intervention

CDKN2A testing threshold in a high-risk Australian melanoma cohort: number of primaries, family history and young age of onset impact risk

COL1A1C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia?

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

Clinical and positron emission tomography of Parkinson's disease caused by LRRK2.

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

Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.

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

Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

Evaluation of the efficacy of 3D total-body photography with sequential digital dermoscopy in a high-risk melanoma cohort: protocol for a randomised controlled trial

Factors Associated with Parental Adaptation to Children with an Undiagnosed Medical Condition

Factors influencing cancer genetic somatic mutation test ordering by cancer physician

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

Genetic testing in Parkinson's disease

Genetic testing in Parkinson's disease

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

Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice

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

Low first-trimester PAPP-A in IVF (fresh and frozen-thawed) pregnancies, likely due to a biological cause.

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

Midbrain dopamine and prefrontal function in humans: interaction and modulation by COMT genotype

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

Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype.

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia

Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function

Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

OR28-3 A Mutation in KCNK16 Segregating with Autosomal Dominant Non-Ketotic Diabetes Drastically Increases TALK-1 Membrane Current: A Novel Gene for MODY?

Parkinsonism among Gaucher disease carriers

Point mutation in p14ARF -specific exon 1β of CDKN2A causing familial melanoma and astrocytoma.

Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.

Prevalence of Parkinson's disease in populations of African ancestry: a review.

Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia

Queensland Consumers' Awareness and Understanding of Clinical Genetics Services

SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies.

Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60

The Emerging Field of Polygenic Risk Scores and Perspective for Use in Clinical Care

The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type V

The interplay of sun damage and genetic risk in Australian multiple and single primary melanoma cases and controls

The personal touch: does the communication method affect response to melanoma genetic risk?

Truth-telling and Turner Syndrome: the importance of diagnostic disclosure

Turner syndrome: four challenges across the lifespan

Unusual suspects in hereditary melanoma: POT1, POLE, BAP1

Uptake of invasive prenatal tests in pregnancies conceived via assisted reproductive technologies: the experience in Queensland, Australia.

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

Waiting for a diagnosis in Rubinstein-Taybi: The journey from "ignorance is bliss" to the value of "a label"

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

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome

Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism