Publications by authors named "Aideen McInerney-Leo"

42Publications

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

J Clin Endocrinol Metab 2020 Dec 25. Epub 2020 Dec 25.

Australian Translational Genomics Centre, Institute of Health and Biomedical Innovation, School of Biomedical Sciences, Queensland University of Technology (QUT), Translational Research Institute, Woolloongabba, QLD, Australia, 4102.

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December 2020

Queensland Consumers' Awareness and Understanding of Clinical Genetics Services.

Front Genet 2020 15;11:537743. Epub 2020 Oct 15.

Dermatology Research Centre, The University of Queensland Diamantina Institute, University of Queensland, Brisbane, QLD, Australia.

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October 2020

Factors influencing cancer genetic somatic mutation test ordering by cancer physician.

J Transl Med 2020 11 12;18(1):431. Epub 2020 Nov 12.

The Dermatology Research Group, University of Queensland Diamantina Institute, The University of Queensland, Translational Research Institute, 37 Kent St, Woolloongabba, QLD, 4102, Australia.

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November 2020

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

Am J Med Genet A 2021 01 16;185(1):105-111. Epub 2020 Oct 16.

The University of Queensland Diamantina Institute, The University of Queensland, Woolloongabba, Queensland, Australia.

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January 2021

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

Front Genet 2020 7;11:461. Epub 2020 May 7.

Translational Genomics Group, Institute of Health and Biomedical Innovation, Queensland University of Technology, Brisbane, QLD, Australia.

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May 2020

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

Mol Genet Genomic Med 2020 03 16;8(3):e1116. Epub 2020 Jan 16.

Translational Genomics Group, Institute of Health and Biomedical Innovation, Queensland University of Technology at Translational Research Institute, Woolloongabba, QLD, Australia.

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March 2020

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

Am J Med Genet A 2020 04 14;182(4):829-830. Epub 2020 Jan 14.

Prince Charles Hospital Clinical Unit, The University of Queensland, School of Clinical Medicine, Brisbane, Queensland, Australia.

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April 2020

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

Pediatr Diabetes 2019 02 14;20(1):57-64. Epub 2018 Nov 14.

Institute of Health and Biomedical Innovation, Faculty of Health, Queensland University of Technology (QUT), Translational Research Institute, Princess Alexandra Hospital, Brisbane, Queensland, Australia.

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February 2019

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

N Engl J Med 2017 08;377(6):544-552

From the Divisions of Developmental and Stem Cell Biology (H.S., A.E., M.R., E.M.M.A.M., R.W., J.M., J.O.S., E.I., K.S., J.H., K.K., G.C., D.B.S., S.L.D.), Vascular Biology (G.J.M., R.S.), and Molecular, Structural, and Computational Biology (D.T.H., J.W.K.H., E.G.), Victor Chang Cardiac Research Institute, the Faculties of Medicine and Science, University of New South Wales (H.S., A.E., J.O.S., E.I., D.T.H., G.J.M., J.W.K.H., K.K., R.S., E.G., G.C., D.B.S., S.L.D.), Liverpool Hospital, Department of Clinical Genetics (A.E., A.C.), the Department of Clinical Genetics (A.E., J.S., F.C., D.O.S.) and the Heart Centre for Children (D.S.W.), Children's Hospital at Westmead, the Discipline of Genetic Medicine (A.E., J.S., F.C., D.O.S.) and the Medical School (D.S.W.), University of Sydney, and the Faculty of Medicine and Health Sciences, Macquarie University (C.K.L., G.J.G.) - all in Sydney, the School of Biological Sciences, University of Adelaide, Adelaide, SA (J.N.H., P.Q.T.), and the Institute of Health and Biomedical Innovation, Queensland University of Technology (A.M.M.-L., P.J.L., M.A.B., E.L.D.), the Translational Research Institute (A.M.M.-L., P.J.L., M.A.B., E.L.D.), the Department of Endocrinology, Royal Brisbane and Women's Hospital (E.L.D.), and the University of Queensland School of Medicine (E.L.D.), Brisbane - all in Australia; and Spectrum Health Medical Group, Medical Genetics, Grand Rapids, MI (P.R.M.).

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August 2017

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

Am J Med Genet A 2017 Jun 19;173(6):1698-1704. Epub 2017 Apr 19.

Translational Genomics Group, Institute of Health and Biomedical Innovation (IHBI), Queensland University of Technology (QUT) at the Translational Research Institute, Brisbane, Queensland, Australia.

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June 2017

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

J Genet Couns 2017 Aug 30;26(4):829-840. Epub 2016 Dec 30.

Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, MD, USA.

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August 2017

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

J Med Genet 2016 07 11;53(7):457-64. Epub 2016 Apr 11.

Department of Genetics, Reference Center for Skeletal Dysplasia, Paris Descartes University-Sorbonne Paris Cité, INSERM U MR1163, IMAGINE Institute, Hôpital Necker-Enfants Malades, Paris, France.

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July 2016

Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects.

Hum Mol Genet 2015 Mar 24;24(5):1234-42. Epub 2014 Oct 24.

The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba QLD 4102, Australia, Department of Endocrinology, James Mayne Building, Royal Brisbane and Women's Hospital, Butterfield Road, Herston, QLD 4029, Australia The University of Queensland, University of Queensland Centre for Clinical Research, Herston, QLD 4029, Australia

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March 2015

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

Bonekey Rep 2013 4;2:456. Epub 2013 Dec 4.

The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital , Brisbane, Queensland, Australia ; Department of Endocrinology, Royal Brisbane and Women's Hospital , Herston, Queensland, Australia.

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February 2014

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

Clin Endocrinol (Oxf) 2014 Jan 25;80(1):25-33. Epub 2013 Oct 25.

The University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Woolloongabba, Brisbane, Australia.

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January 2014

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

Am J Hum Genet 2013 Sep 1;93(3):515-23. Epub 2013 Aug 1.

The University of Queensland Diamantina Institute, Translational Research Institute, Level 7, 37 Kent Street, Woolloongabba, QLD 4102, Australia.

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September 2013

Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.

Hum Mol Genet 2013 Apr 17;22(8):1625-31. Epub 2013 Jan 17.

Developmental and Stem Cell Biology Division, Victor Chang Cardiac Research Institute, Sydney, NSW 2010, Australia.

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April 2013

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

J Pediatr 2006 Jan;148(1):102-7

National Human Genome Research Institute and the National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892-1852, USA.

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January 2006

Turner syndrome: four challenges across the lifespan.

Am J Med Genet A 2005 Dec;139A(2):57-66

National Human Genome Research Institute, NIH, Bethesda, Maryland 20892-1852, USA.

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December 2005

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

Nat Neurosci 2005 May 10;8(5):594-6. Epub 2005 Apr 10.

Section on Integrative Neuroimaging, National Institute for Mental Health, National Institutes of Health, Department of Health and Human Services, 9000 Rockville Pike, Bethesda, Maryland 20892-1365, USA.

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May 2005

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

Ann Neurol 2005 Mar;57(3):453-6

Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Department of Health and Human Services, Porter Neuroscience Research Center, 9000 Rockville Pike, Bethesda, MD 20892, USA.

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March 2005

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

Am J Med Genet A 2005 Mar;133A(2):165-9

Medical Genetics Branch, National Human Genome Research Institute/NIH, Bldg. 10, 10 Center Drive, Bethesda, MD 20892, USA.

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March 2005

Genetic testing in Parkinson's disease.

Mov Disord 2005 Jan;20(1):1-10

Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20952, USA.

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January 2005

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

J Natl Med Assoc 2004 Jul;96(7):974-9

Medical Genetics Branch, National Human Genome Research Institute, Building 10, Room 3C710, 10 Center Drive, MSC 1253, Bethesda, MD 20892-1253, USA.

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July 2004