Dr Aideen McInerney-Leo

PhD Exome sequencing, MSc Genetic Counselling, BSc Human Genetics

NHMRC Research Fellow


About me

Dr Aideen McInerney-Leo studied Human Genetics as an undergraduate at the University College London and her Masters in Genetic Counselling at the University of Manchester.  Following graduation Aideen moved to Bethesda, Maryland to a position at the National Institutes of Health where she remained for the following eight years.  During this time she had many roles including assistant director of the genetic counselling training program at Johns Hopkins University, clinical genetic counsellor and researcher counsellor.  Research studies included Hereditary Breast and Ovarian Cancer, Turner syndrome, Premature Ovarian Failure and neurodegenerative diseases in general with a special interest in Parkinson Disease.  Aideen moved to Australia in 2006 where she accepted a position as a prenatal genetic counsellor at so+gi in Southbank.  In 2011 she returned to research at the University of Queensland Diamantina Institute where she got the opportunity to identify new genes for rare genetic disorders, particularly skeletal dysplasias.  After a series of fortunate, exciting, discoveries Aideen elected to do a PhD on the analysis of whole exome sequencing for rare disorders and also conduct a qualitative study on illness perceptions in a family with Marfan syndrome. She spent two years at QUT developing a new Masters in Diagnostic Genomics while also exploring the impact of integrating genomics into clinical care of cancer patients. In 2019 she commenced her NHMRC fellowship at UQ on identifying new genes for melanoma and evaluating the extent to which genetic fatalism impacts on sun protective behaviour and surveillance adherence in familial melanoma. 


McInerney-Leo AM, Wheeler L, Marshall MS, Anderson LK, Zankl A, Brown MA, Leo PJ, Wicking C, Duncan EL. Homozygous variant in C21ORF2 in a case of Jeune syndrome with severe thoracic involvement: extending the phenotypic spectrum. Am J Med Genet 2017 Jun;173(6):1698-1704

Yanes T, Humphreys L, McInerney-Leo A, Biesecker B. Factors Associated with Parental Adaptation to Children with an Undiagnosed Medical Condition. J Genet Couns. 2017 Aug;26(4):829-840

Hunt LP, McInerney-Leo AM, Sinnott S, Sutton B, Cincotta R, Duncombe G, Chua J, Peterson M. Low first-trimester PAPP-A in IVF (fresh and frozen-thawed) pregnancies, likely due to a biological cause. J Assist Reprod Genet. 2017 Jul 17. doi: 10.1007/s10815-017-0996-1. [Epub ahead of print] PubMed PMID: 28718082.

Shi H, Enriquez A, Rapadas M, Martin EM, Wang R, Moreau J, Lim CK, Szot JO, Ip E, Hughes J, Sugimoto K, Humphreys D, McInerney-Leo AM, Leo PJ, Maghzal GJ, Halliday J, Smith J, Colley A, Mark PR, Collins F, Sillence DO, Winlaw DS, Ho J, Guillemin GJ, Brown MA, Kikuchi K, Thomas PQ, Stocker R, Giannoulatou E, Chapman G, Duncan EL, Sparrow DB, Dunwoodie SL. NAD Deficiency, Congenital Malformations and Niacin Supplementation. NEJM (Accepted May 2017)

Wade EM, Daniel P.B. Jenkins Z.A. , McInerney-Leo AM, Leo PJ, Morgan T, Addor MC, Adès LC, Bertola D, Bohring A, Carter E, Cho TJ, Conway RL, Duba HC, Fletcher E, Kim CA, Krakow D, Neuhann T, Superti-Furga A, Veenstra-Knol A, Wieczorek D, Wilson LC, Hennekam RCM, Sutherland-Smith AJ, Strom TM, Wilkie AOM, Brown MA, Duncan EL, Markie DM, Robertson SP. Mutations in MAP3K7 and TAB2 that alter the activity of the TAK1 signalling complex cause frontometaphyseal dysplasia. Am J Hum Genet. 2016 Aug 4;99(2):392-406

McInerney-Leo AM, Harris JE, Gattas M, Peach EE, Sinnott S, Dudding-Byth T, Rajagopalan S, Barnett CP, Anderson LK, Wheeler L, Brown MA, Leo PJ, Wicking C, Duncan E. Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families. Hum Mutat. 2016 Jul;37(7):695-702

Cortés CR*, McInerney-Leo AM,* Vogel I, Rondón Galeano MC, Leo PJ, Harris JE, Anderson LK, Brown MA, Ramsing M, Duncan EL, Zankl A, Wicking C. Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function. Sci Rep. 2016 Apr 20;6:24083. doi: 10.1038/srep24083.

McInerney-Leo A, Sparrow D, Harris J, Gardiner B, Marshall M, O'Reilly V, Shi H, Brown MA, Leo P, Zankl A, Dunwoodie S, Duncan EL Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects Human Molecular Genetics 2015 Mar 1;24(5):1234-42.

McInerney-Leo A, Le Goff C, Leo PJ, Kenna TJ, Keith P, Harris JE, Steer R, Bole-Feysot C, Nitschke P, Kielty C, Brown MA, Zankl A, Duncan EL, Cormier-Daire V. Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia. Journal of Medical Genetics 2016 Apr 11. pii: jmedgenet-2015-103647. doi 10.1136/jmedgenet-2015-103647.

Lazarus S, McInerney-Leo AM, McKenzie FA, Baynam G, Broley S, Cavan BV, Munns CF, Pruijs JE, Sillence D, Terhal PA, Pryce K, Brown MA, Zankl A, Thomas G, Duncan EL. 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. BMC Musculoskelet Disord. 2014 Mar 27;15:107.

McInerney-Leo A, Harris J, Zankl A, Leo P, Brown MA, Duncan EL COL1A1 C-propeptide cleavage site mutation causes high bone mass, bone fragility and jaw lesions: a new cause of gnathodiaphyseal dysplasia? Clin Genet Epub May 30 2014)

McInerney-Leo AM, Marshall MS, Gardiner B, Benn DE, McFarlane J, Robinson BG, Brown MA, Leo PJ, Clifton-Bligh RJ, Duncan EL. 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;80(1):25-33.

McInerney-Leo AM, Marshall MS, Gardiner B, Coucke PJ, Van Laer L, Loeys BL, Summers KM, Symoens S, West JA, West MJ, Paul Wordsworth B, Zankl A, Leo PJ, Brown MA, Duncan EL. Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome. Bonekey Rep. 2013 Dec 4;2:456.

Schmidts M, Vodopiutz J, Christou-Savina S, McInerney-Leo AM, Emes RD, Arts HH, Leo PJ, Giles T, Oud MM, Harris JA, Koopmans M, Marshall M, Elcioglu N, et al Mutations in IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy. Am J Hum Genet 2013 Nov 7;93(5):932-44.

Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium, Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F. Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. Am J Hum Genet. 2013 Nov 7;93(5): 915-25. 

Scuffham TM, McInerney-Leo A, Ng SK, Mellick G. Knowledge and attitudes towards genetic testing in those affected with Parkinson's disease. J Community Genet. 2013 Sep 10. [Epub ahead of print] PubMed PMID: 24018619.

McInerney-Leo A, Cortes C, Schmidts M, Leo P, Marshall M, Harris J, Gardiner B, Courtney AD, Zankl A, Mitchison HM, Beales P, Brown MA, Wicking C, Duncan EL. Exome sequencing identifies WDR60 as a novel causative gene in short rib polydactyly and Jeune syndromes.  Am J Hum Genet 2013 Sep 5;93(3):515-23

Sparrow D*, McInerney-Leo A* (joint first), Marshall M, Leo P, Chapman DL, Tasic V, Gucev Z, Duncan EL, Dunwoodie SL. Autosomal Dominant Spondylocostal Dysostosis is Caused by Mutation in TBX6. Hum Mol Genet. 2013 Apr 15;22(8):1625-31.

Hunt L, Peterson M, Sinnott S, Sutton B, Duncombe G, Cincotta R, Chua J, Sivyer P, McInerney-Leo A. Uptake of Invasive Prenatal tests in pregnancies conceived via assisted reproductive technologies. Prenatal Diagnosis 2012 Aug 8:1-4

Johnson J, Paisán-Ruíz C, Lopez G, Crews C, Britton A, Malkani R, Evans EW, McInerney-Leo A, Jain S, Nussbaum RL, Foote KD, Mandel RJ, Crawley A, Reimsnider S, Fernandez HH, Okun MS, Gwinn-Hardy K, Singleton AB. Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation. Neurodegener Dis. 2007;4(5):386-91.

McInerney-Leo A, Hadley DW, Kase R, Giambarresi T, Johnson E, Struewing JP and Biesecker BB. BRCA1/2 Testing in Hereditary Breast and Ovarian Cancer Families III: Risk Perception and Screening. Am J Med Genet 2006 (140):2198-206.

Sutton EJ, Young J, McInerney-Leo A, Bondy CA, Biesecker BB. Truth Telling and Turner Syndrome: the importance of diagnostic disclosure J Pediatr 2006; 148:1:102-107

Sutton EJ, McInerney-Leo A, Bondy CA, Gollust S, King D, Biesecker BB. Turner Syndrome:  Four Challenges Across the Lifespan. Am J Med Genet 2005 (139) 57-66

Simon-Sanchez J, Hanson M, Singleton A, Hernandez D, McInerney A, Nussbaum R, Werner J, Gallardo M, Weiser R, Gwinn-Hardy K, Singleton AB, Clarimon J.  Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: Evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease. Neurosci Lett. 2005 Jul;382(1-2):191-194. Epub 2005 Apr 1.

Meyer-Lindenberg A, Kohn P.D., Kolachana B, Kippenhan S, McInerney-Leo A., Nussbaum R., Weinberger D.R.& Berman, K.F.  Midbrain dopamine synthesis and prefrontal cortical function are related in humans in vivo and modulated by COMT genotype. Nat Neurosci. 2005 May; 8(5):594-6

McInerney-Leo A.  Comment on “Genetic Testing in Parkinson’s Disease”. Movement Disorders. 2005 July; 20(7): 908-909.

McInerney-Leo A, Hadley DH, Gwinn-Hardy K, Hardy J.  Genetic Testing in Parkinson’s Disease. Movement Disorders. 2005 Jan; 20(1):1-10

Hernandez D, Paisán-Ruz C, McInerney-Leo A, Jain S, Meyer-Lindenberg A, Whitney Evans E, Berman KF, Johnson J, Auburger G, Schaffer A, Lopez G, Nussbaum RL, Singleton AB. Clinical and positron emission tomography of Parkinson's disease caused by LRRK2. Annals Neurology 2005 Mar. 57:3; 453-456

McInerney-Leo A, Biesecker BB, Hadley DW, Kase R, Giambarresi T, Johnson E, Lerman C and Struewing JP. BRCA1/2 Testing in Hereditary Breast and Ovarian Cancer Families II: Impact on Relationships Am J Med Genet Mar 2005;133(2):165-9.

Rogaeva E, Johnson J, Lang AE, Gulick C, Gwinn-Hardy K, Kawarai T, Sato C, Morgan A, Werner J, Nussbaum R, Petit A, Okun MS, McInerney A, Mandel R, Groen JL, Fernandez HH, Postuma R, Foote KD, Salehi-Rad S, Liang Y, Reimsnider S, Tandon A, Hardy J, St George-Hyslop P, Singleton AB.  Analysis of the PINK1 gene in a large cohort of cases with Parkinson’s Disease. Archives of Neurology 2004 61:1898-1904

Goker-Alpan A, Schiffmann R, LaMarca  ME, Nussbaum RL, McInerney-Leo A, Sidransky E. Parkinsonism Among Gaucher Disease Carriers. J Med Genetics 2004 Dec; 41(12): 937-940

Johnson J, Hague SM, Hanson M, Gibson A, Wilson KE, Evans EW, Singleton AA, McInerney-Leo A, Nussbaum RL, Hernandez DG, Gallardo M, McKeith IG, Burn DJ, Ryu M, Hellstrom O, Ravina B, Eerola J, Perry RH, Jaros E, Tienari P, Weiser R, Gwinn-Hardy K, Morris CM, Hardy J, Singleton AB. SNCA multiplication is not a common cause of Parkinson’s disease or dementia with Lewy bodies. Neurology. 2004 Aug 10;63(3):554-6.

McInerney-Leo A, Gwinn-Hardy K, Nussbaum RL. The prevalence of Parkinson's disease in Africa and populations of African ancestry: A review. JNMA 2004; 96:974-979

McInerney-Leo A, Biesecker BB, Hadley DW, Kase R, Giambarresi T, Johnson E, Lerman C and Struewing JP. BRCA1/2 Testing in Hereditary Breast and Ovarian Cancer Families: Effectiveness of Problem Solving Training as a Counselling Intervention.  American Journal of Medical Genetics 2004: Sept 130A(3):221-227

Kelberman D, Tyson J, Chandler DC, McInerney AM, Slee J, Albert D, Aymat A, Botma M, Calvert M, Goldblatt J, Haan EA, Laing NG, Lim J, Malcom S, Singer SL, Winter RM, Bitner-Glindzicz M. Hemifacial Microsomia: progress in understanding the genetic basis of a complex malformation syndrome. Human Genetics 2001: Dec 109(6):638-45

Green M, McInerney AM, Biesecker BB and Fost N. Education about Genetic Testing for Breast Cancer Suscepibility: Patient Preferences for a Computer Program or Genetic Counselor.  American Journal of Medical Genetics 2001 103: 24-31

Green M, McInerney AM, Biesecker BB and Fost N. An interactive computer program can effectively educate patients about genetic testing for breast cancer susceptibility.  American Journal of Medical Genetics 2001: 103: 16-23

Ho NC, McInerney A, Levy H, Francomano CA and Elkayam O. (2000) Minocycline-induced generalized postinflammatory elastoysis.  American Journal of Medicine.  2000;109 (4): 340