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Frontiers in Endocrinology|March 8, 2021
Massively Parallel Sequencing for Rare Genetic Disorders: Potential and PitfallsAideen M McInerney-Leo, Emma L DuncanJournal of Genetic Counseling|October 29, 2021
The impact of Marfan syndrome on an Aboriginal Australian family: 'I don't like it as much as I don't like cancer'Aideen M McInerney-Leo, Jennifer West, Bettina Meiser, et al.Molecular Genetics & Genomic Medicine|January 18, 2020
Compound heterozygous mutations in FBN1 in a large family with Marfan syndromeAideen M McInerney-Leo, Jennifer West, Lawrie Wheeler, et al.American Journal of Medical Genetics. Part A|April 20, 2017
Homozygous variant in C21orf2 in a case of Jeune syndrome with severe thoracic involvement: Extending the phenotypic spectrumAideen M McInerney-Leo, Lawrie Wheeler, Mhairi S Marshall, et al.Human Molecular Genetics|July 5, 2020
The emerging field of polygenic risk scores and perspective for use in clinical careTatiane Yanes, Aideen M McInerney-Leo, Matthew H Law, et al.Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies|May 25, 2023
Human Genetics Society of Australasia Position Statement: Genetic Testing and Personal Insurance Products in AustraliaAideen M McInerney-Leo, Samantha Ayres, Jackie Boyle, et al.Clinical Endocrinology|October 10, 2013
Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomasAideen M McInerney-Leo, Mhairi S Marshall, Brooke Gardiner, et al.Dermatology (Basel, Switzerland)|February 15, 2021
A Systematic Review on the Impact of Genetic Testing for Familial Melanoma I: Primary and Secondary Preventative BehavioursClare A Primiero, Tatiane Yanes, Anna Finnane, et al.Dermatology (Basel, Switzerland)|January 28, 2021
A Systematic Review on the Impact of Genetic Testing for Familial Melanoma II: Psychosocial Outcomes and AttitudesClare A Primiero, Tatiane Yanes, Anna Finnane, et al.European Journal of Human Genetics : EJHG|March 15, 2024
The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominatesRebecca Kriukelis, Michael T Gabbett, Rachael Beswick, et al.Pageof 17