Associate Professor Aideen McInerney-Leo

Wallingford C, Maas EJ, Howard A, DeBortoli E, Bhanja D, Lee K, Jagirdar K, Willett R, Betz-Stablein B, Sturm RA, Soyer HP, McInerney-Leo AM. A rare homozygous MITF E318K case with multiple primary melanoma. Pigment Cell Melanoma Research 2023 Aug 27. doi: 10.1111/pcmr.13122. Epub ahead of print. PMID: 37635363.

Yanes T, Nathan V, Wallingford C, Faragher R, Nankervis K, Jacobs C, Vassos M, Boyle F, Carroll A, Smith S, McInerney-Leo A. Australasian genetic counsellors’ attitudes towards disability and prenatal testing: findings from a cross-sectional survey. Journal of Genetic Counselling 2023 Sep 21. doi: 10.1002/jgc4.1788. Epub ahead of print. PMID: 37735951.

Haining CM, Tiller J, Otlowski M, Gleeson P, Murawski C, Barlow-Stewart K, Lacaze P, McInerney-Leo A*, Keogh LA* (*joint senior author). Financial advisers’ perspectives on the Australian industry-led Moratorium on Genetic Tests in Life Insurance. Public Health Genomics 2023 Aug 11. doi: 10.1159/000533532. Epub ahead of print. PMID: 37573782.

Maas EJ, Wallingford CA, DeBortoli E, Smit, D, Betz-Stablein B, Aoude LG, Stark MS, Sturm RA, Soyer HP, McInerney-Leo AM. GOLM1: Expanding our understanding of melanoma susceptibility. J Med Genet 2023 Sep;60(9):835-837. doi: 10.1136/jmg-2023-109348. Epub 2023 Jul 24. PMID: 37487699.

Vears D, Boyle J, Jacobs C, McInerney-Leo AM, Newson AJ. Human Genetics Society of Australasia Position Statement: Genetic Carrier Testing for Recessive Conditions. Twin Research and Human Genetics 2023 Apr;26(2):188-194. doi: 10.1017/thg.2023.15. Epub 2023 May 25. PMID: 37226803.

McInerney-Leo AM, Ayres S, Boyle J, Jacobs C, Newson AJ. Human Genetics Society of Australasia Position Statement: Genetic Testing and Personal Insurance Products in Australia. Twin Research and Human Genetics 2023 Apr;26(2):184-187. doi: 10.1017/thg.2023.11. Epub 2023 May 25. PMID: 37226735.

Yanes T, Wallingford C, Young MA, McInerney-Leo AM, Willis A, McKnight L, Terrill B, McInerny S, Forrest L, Ciccarelli L, Williams R, Keane H, James PA. Development and evaluation of a novel educational program for providers on the use of polygenic risk scores. Genomic Medicine Aug;25(8):100876. doi: 10.1016/j.gim.2023.100876. Epub 2023 May 3. PMID: 37149760.

Tiller J, Bakshi A, Dowling G, Keogh L, McInerney-Leo A, Barlow-Stewart K, Boughtwood T, Gleeson P, Delatycki M, Winship I, Otlowski M, Lacaze P. Community concerns about genetic discrimination in life insurance persist in Australia: a survey of consumers offered genetic testing. EJHG 2023 May 11. doi: 10.1038/s41431-023-01373-1. Epub ahead of print. PMID: 37169978.

Bhave P, Wong J, McInerney-Leo AM, Cust A, Lawn C, Janda M, Mar V. Management of Melanoma in Australia: An Updated Review. Medical Journal of Australia 2023 May 15;218(9):426-431. doi: 10.5694/mja2.51910. Epub 2023 Apr 30. PMID: 37120760.

Hassan N, Gregson CL, Tang H, van der Kamp M, Leo PJ, McInerney-Leo AM, Zheng J, Brandi ML, Tang JCY, Fraser W, Stone MD, Grundberg E, Brown MA, Duncan EL, Tobias J. Genetic association studies suggest that GALNT3 affects bone mass independently of phosphate metabolism. Journal of Bone and Mineral Research 2023 May;38(5):678-691. doi: 10.1002/jbmr.4795. Epub 2023 Mar 13. PMID: 36824040.

Wallingford CK, Demeshko A, Krishnankutty Krishnakripa A, Smit DJ, Duffy DL, Betz-Stablein B, Pflugfelder A, Holland E, Mann GJ, Primiero C, Yanes T, Malvehy J, Badenas J, Carrera C, Aguilera P, Puig S, Sturm RA, Cust AE, Potrony M, Soyer HP, McInerney-Leo AM. MC1R ‘r’ allele does not increase melanoma risk in MITF E318K carriers. British Journal of Dermatology 2023 Mar 5:ljad041. doi: 10.1093/bjd/ljad041. Online ahead of print. PMID: 36879448

Wallingford CK, Kovilpillai H, Jacobs C, Turbitt E, Primiero CA, Young MA, Brockman DG, Soyer HP, McInerney-Leo AM, Yanes T. Models of communication for polygenic scores and associated psychosocial and behavioral impacts on recipients: a systematic review. Genetics in Medicine 2023 Jan;25(1):1-11. doi: 10.1016/j.gim.2022.09.008. Epub 2022 Nov 2. PMID: 36322150

Primiero CA, Baker AM, Wallingford CK, Maas EJ, Yanes T, Fowles L, Janda M, Young MA, Nisselle A, Terrill B, Lodge JM, Tiller JM, Lacaze P, Andersen H, McErlean G, Turbitt E, Soyer HP, McInerney-Leo AM. Attitudes of Australian Dermatologists on the use of genetic testing: A cross-sectional survey. Frontiers in Genetics 2022 Oct 24;13:919134. doi: 10.3389/fgene.2022.919134. PMID: 36353112; PMCID: PMC9638172.

Primiero CA, Finnane A, Yanes T, Peach E, Soyer HP, McInerney-Leo AM. Protocol to evaluate a pilot program to upskill clinicians in providing genetic testing for familial melanoma. PLOS One 2022 Dec 7;17(12):e0275926. doi: 10.1371/journal.pone.0275926. PMID: 36477719; PMCID: PMC9728910.

DeBortoli E, Soyer HP, Milne D, Dissanayaka N, Gartner C, Holt J, Rae K, Robison L, Wallingford C*, McInerney-Leo AM* (joint senior) Measurable Outcomes of Consumer Engagement in Health Research: A Scoping Review. Frontiers in Public Health 2022 Oct 17;10:994547. doi: 10.3389/fpubh.2022.994547. PMID: 36324444; PMCID: PMC9621387

Maas E, Wallingford C, McGuire JJ, Rutjes C, Smit DJ, Betz-Stablein B, Sturm RA, Soyer HP, McInerney-Leo AM.  Amelanotic/Hypopigmented Melanoma in a Sibship with Oculocutaneous Albinism: Exploring Genetic Modifiers. The Journal of Dermatology (2022) Nov;49(11):1183-1187. doi: 10.1111/1346-8138.16528. Epub 2022 Jul 27. PMID: 35894802.

Tiller J, Dowling G, McInerney-Leo A, Belcher A, Haining C, Barlow-Stewart K, Boughtwood T, Gleeson P, Delatycki M, Winship I, Otlowski M, Jacobs C, Keogh L, Lacaze P. Health professionals’ views and experiences of the Australian moratorium on genetic testing and life insurance: A qualitative study. Eur J Hum Genetics (2022) Nov;30(11):1262-1268. https://doi.org/10.1038/s41431-022-01150-6

Vidgen ME, Cutler K, Bean J, Bunker D, Fowles LF, Healy L, Hondow G, Istiko SN, McInerney-Leo AM, Pratt G, Robins D, Waddell N, Evans E. Dual roles of a Community Advisory Group in a health implementation program: a case study from the community perspective Frontiers in Genetics (2022) https://doi.org/10.3389/fgene.2022.892475

Maas E, Betz-Stablein B, Aoude L, Soyer HP, McInerney-Leo AM.  The Unusual Suspects in Hereditary Melanoma: POT1, POLE and BAP1. Trends in Genetics  2022 Dec;38(12):1204-1207.  DOI: 10.1016/j.tig.2022.06.007 PMID: 35811174

Chang A, Morgan L, Duncan EL, Chatfield M, Schultz, André; Leo PJ, Callum G, McInerney-Leo, AM et al. Reducing exacerbations in children and adults with primary ciliary dyskinesia using erdosteine and/or azithromycin therapy (REPEAT trial): Study protocol for a multi-centre, double-blind, double-dummy, 2x2 partial factorial, randomised controlled trial. BMJ Open Respiratory Research 2022 May;9(1):e001236. doi: 10.1136/bmjresp-2022-001236.

Lee KJ, Betz-Stablein B, Stark M, Janda M, McInerney-Leo AM, Caffery L, Gillespie N, Yanes, T. Soyer HP. The Future of Precision Prevention for Advanced Melanoma. Frontiers in Medicine (Lausanne). 2022 Jan 17;8:818096. doi: 10.3389/fmed.2021.818096. PMID: 35111789; PMCID: PMC8801740.

Vidgen ME, Fowles LF, Istiko SN, Evans E, Cutler K, Sullivan K, Bean J, Healy L, Hondow G, McInerney-Leo AM, Pratt G, Robins D, Best S, Finlay K, Ramarao-Milne P, Waddell N. Evaluation of a Genetics Education Program for Health Interpreters: a pilot study. Frontiers in Genetics 2022 Feb 3;12:771892.doi: 10.3389/fgene.2021.771892

McInerney-Leo AM, West JA, Meiser BM, West MJ, Brown MA, Duncan EL. The Impact of Marfan Syndrome on an Australian Aboriginal family: “I don’t like it as much as I don’t like cancer”. Journal of Genetic Counseling (October 2021) https://doi.org/10.1002/jgc4.1529

Allen KA, McInerney-Leo AM, Gamble N, Wurf G, Boyle C. The Ethical Protection of Genetic Information: Procedure Analysis for Psychologists. Clinical Psychologist vol.26,no.1, 2021, pp. 1-10. https://doi.org/10.1080/13284207.2021.1985376

Betz-Stablein B, Koh U, Edwards HA, McInerney-Leo A, Janda M, Soyer HP. Anatomic Distribution of Cherry Angiomas in the General Population. Dermatology. 2021 Jul 22:1-9. doi: 10.1159/000517172. Epub ahead of print. PMID: 34293748.

Tiller J, Keogh L, McInerney-Leo AM, Belcher A, Barlow-Steward K, Boughtwood T, Gleeson P, Dowling G, Prince AER, Bombard Y, Joly Y, Delatycki M, Winship I, Otlowski M, Lacaze P. A step forward, but still inadequate: Australian health professionals’ views on the genetics and life insurance moratorium. Journal of Medical Genetics (Sept 2021) 10.1136/jmedgenet-2021-107989

Pysar R*, Wallingford CK* (joint first), Boyle J, Campbell SB, Eckstein L, McWhirter R, Terrill B, Jacobs C, McInerney-Leo AM. Human Research Ethics Committee Members’ Confidence in Reviewing Genomic Research Applications. European Journal of Human Genetics 2021 Dec;29(12):1811-1818 PMID: 34446835 https://doi.org/10.1038/s41431-021-00951-5

McInerney-Leo AM, Chew HY, Inglis PL, Leo PJ, Joseph SR, Cooper CL, Okano S, Hassall T, Anderson LK, Bowman RV, Gattas M, Harris JE, Marshall MS, Shaw JG, Wheeler L, Yang IA, Brown MA, Fong KM, Simpson F, Duncan EL. Germline ERBB3 mutation in familial non-small cell lung carcinoma: expanding the role of the ErbB family in oncogenesis. Human Molecular Genetics 2021 Nov 30;30(24):2393-2401. doi: 10.1093/hmg/ddab172. PMID: 34274969

Graff SM, Johnson SR, Leo PJ, Dadi PK, Nakhe AY, McInerney-Leo AM, Marshall M, Brown MA, Jacobson DA, Duncan EL. A novel mutation in KCNK16 in a family with maturity onset diabetes of the young: drastic increases in β-cell TALK-1 membrane current and reduced glucose-stimulated insulin secretion. J Clinical Investigation Insight  https://doi.org/10.1172/jci.insight.138057

Tiller J, McInerney-Leo AM, Belcher A, Boughtwood T, Gleeson P, Delatycki M, Barlow-Steward K, Winship I, Otlowski M, Keogh L, Lacaze P. Study protocol: The Australian Genetics and Life Insurance Moratorium - Monitoring the Effectiveness and Response (A-GLIMMER) project BMC Med Ethics https://doi.org/10.1186/s12910-021-00634-2

Närhi A, Fernandes A, Toiviainen-Salo S, McInerney-Leo AM, Harris J, Lazarus S, Avela K, Duncan EL. A family with partially penetrant multicentric carpo-tarsal osteolysis due to gonadal mosaicism: first reported case. AJMG 2021 https://doi.org/10.1002/ajmg.a.62257

Bakshi A, Yan M, Riaz M, Polekhina G, Orchard SG, Tiller J, Wolfe R, Joshi A, Cao Y, McInerney-Leo AM, Yanes T, Janda M, Soyer HP, Cust AE, Law MH, Gibbs P, Chan AT, McNeil JJ, Mar VJ, Lacaze P. Genomic risk score for melanoma in a prospective study of older individuals. JNCI 2021 https://doi.org/10.1093/jnci/djab076 PMID: 33837773

Das Gupta K, Gregory G, Meiser B, Kaur R, Scheepers-Joynt M, McInerny S, Taylor S, Barlow-Stewart K, Antill Y, Salmon L, Smyth C, McInerney-Leo A, Young MA, James PA, Yanes T. Communicating polygenic risk scores in the familial breast cancer clinic. Patient Educ Couns - https://doi.org/10.1016/j.pec.2021.02.046

Seabrook A, Harris JE, Velosa SB, Kim E, McInerney-Leo AM et al. Multiple Endocrine Tumours associated with germline MAX mutations: Multiple Endocrine Neoplasia Type 5? Journal Clinical Endocrinology and Metabolism https://doi.org/10.1210/clinem/dgaa957

McInerney-Leo, Duncan E. Massively parallel sequencing for rare genetic disorders:potential and pitfalls. Frontiers in Endocrinology (Accepted Dec 2020)

Primiero C, Yanes T, Finnane A, Soyer HP, McInerney-Leo AM. A systematic review on the impact of genetic testing for familial melanoma I: primary and secondary preventative behaviours. Dermatology (accepted Dec 2020)

Primiero C, Yanes T, Finnane A, Soyer HP, McInerney-Leo AM. A systematic review on the impact of genetic testing for familial melanoma II: psychosocial outcomes. Dermatology (Accepted Dec 2020)

Martin EM, Enriquez A, Sparrow DB, Humphreys DT, McInerney-Leo AM, Leo PJ, Duncan EL Iyer KR, Greasby JA, Ip IE, Giannoulatou E, Sheng D, Wohler E, Dimartino C, Amiel J, Capri Y, Lehalle D, Mory A, Wilnai, Lebenthal Y, Gharavi AG, Grażyna, Krzemień G, Miklaszewska, Steiner RD, Raggio C, Blank R, Baris H, Feldman, Rasouly HM, Sobreira NLM, Jobling R, Gordon CT, Giampietro P,  Dunwoodie SL, Chapman G. Heterozygous loss of WBP11 function causes multiple congenital defects in humans and mice. Human Molecular Genetics. (November 2020)

Wallingford CK, Cutler K, Istiko SN, Fowles L, Lamb R, Bean J, Healy L, Hondow G, Pratt G, Vidgen ME, Waddell N, Evans E, Bunker D, McInerney-Leo AM. Queensland Consumers’ awareness and understanding of clinical genetics services. J Transl Med 18, 431 (2020). https://doi.org/10.1186/s12967-020-02610-7

Withers CM, Fleming, J, Wallingford CK, Gabbett MT, Peterson M, Humphries L, McInerney-Leo AM.  Waiting for a diagnosis in Rubinstein Taybi: the journey from ‘ignorance is bliss’ to the value of ‘a label'. Am J Med Genet. 2020;1–7. DOI: 10.1002/ajmg.a.61920

Rayner JE, Duffy DL, Smit DJ, Jagirdar K, Lee KJ, De'Ambrosis B, Smithers BM, McMeniman EK, McInerney-Leo AM, Schaider H, Stark MS, Soyer HP, Sturm RA. Albinism variants in individuals with amelanotic/hypomelanotic melanoma: increased carriage of TYR and OCA2 variants and their somatic mutation in AHM tumor tissue. PLOS ONE, 2020; 15 (9): e0238529 DOI: 10.1371/journal.pone.0238529

Yanes T, McInerney-Leo AM, Law MH, Cummings S. The emerging field of polygenic risk scores and perspective for use in Clinical Care. Hum Mol Genet https://doi.org/10.1093/hmg/ddaa136

McMeniman EK, Peach E, Lee KJ, Jagirdar K, Stark MS, Soyer HP, Duffy DL, McInerney-Leo AM* Sturm RA* (joint senior). CDKN2A testing threshold in high risk Australian melanoma cohort: How the number of primaries and age of onset affects genetic testing. JEADV May 9. doi: 10.1111/jdv.16627.

McInerney-Leo AM, West JA, Meiser BM, West MJ, Brown MA, Duncan EL. Causal Attributions in an Australian Aboriginal family with Marfan syndrome: A qualitative study. Frontiers in Genetics 2020 April. doi: 10.3389/fgene.2020.00461

McInerney-Leo AM, West JA, McGill JJ, Brown MA, Duncan EL, West MJ. 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 Jan 14. doi: 10.1002/ajmg.a.61474

McInerney-Leo AM, West JA, Wheeler L, Leo PJ, Summers KM, Anderson L, Brown MA, West MJ, Duncan EL. Compound heterozygous mutations in FBN1 in a large family with Marfan syndrome. Med Gen Genomic Med. 2020 Mar;8(3):e1116. doi: 10.1002/mgg3.1116.

McMeniman EK, Duffy DL, Jagirdar K, Lee KJ, Peach E, McInerney-Leo AM, De’Ambrosis B, Rayner JE, Smithers BE, Soyer HP, Sturm RA. The interplay of sun-damage and genetic risk in Australian multiple and single primary melanoma cases and controls. British Journal of Dermatology Accepted Dec 2019 DOI: 10.1111/bjd.18777

Primiero CA, McInerney-Leo AM, Betz-Stablein B, Whiteman DC, Gordon LG, Caffery LJ, Aitken JF, Eakin E, Osborne S, Gray L, Smithers BM, Janda M, Soyer HP, Finnane A. Protocol for a Randomised Controlled Trial to evaluate the efficacy of 3D Total Body Photography with sequential digital dermoscopy in a high risk melanoma cohort. BMJ Open. Accepted for publication 07.10.2019. DOI: 10.1136/bmjopen-2019-032969

Gregson CL, Bergen D, Sessions RB, Wheeler L, Hartley A, Youlton S, Croucher PI, McInerney-Leo AM, Fraser W, Tang JCY, Anderson L, Marshall M, Paternoster L, Davey-Smith G, Brown MA, Hammond C, Kemp JP, Leo PJ, Tobias JH, Duncan EL. A rare mutation in SMAD9 associated with high bone mass identifies the SMAD-dependent BMP signalling pathway as a potential anabolic target for osteoporosis. J Bone Miner Res. 2019 Sep 16. doi: 10.1002/jbmr.3875.

Johnson SR, Ellis JJ, Leo P, Anderson LK, Ganti U, Harris JE, Curran JA, McInerney-Leo A, Paramalingam N, Song X, Conwell LS, Harris M, Jones TW, Brown MA, Davis EA, Duncan EL. Comprehensive genetic screening: the prevalence of MODY gene variants in a population-based childhood diabetes cohort. Pediatr Diabetes. 2019 Feb;20(1):57-64 doi 10.1111/pedi.12766

Maharaj A, Buonocore F, Meimaridou E, Ruiz-Babot G, Guasti L, Peng HM, Capper CP, Burgos-Tirado N, Prasad R, Hughes CR, Maudhoo A, Crowne E, Cheetham TD, Brain CE, Suntharalingham JP, Striglioni N, Yuksel B, Gurbuz F, Gupta S, Lindsay R, Couch R, Spoudeas HA, Guran T, Johnson S, Fowler DJ, Conwell LS, McInerney-Leo AM, Drui D, Cariou B, Lopez-Siguero JP, Harris M, Duncan EL, Hindmarsh PC, Auchus RJ, Donaldson MD, Achermann JC, Metherell LA. Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing. J Endocr Soc. 2018 Oct 30;3(1):201-221. Doi 10.1210/js.2018-00130

Cundy T, Dray M, Delahunt J, Hald JD, Langdahl B, Li C, Szybowska M, Mohammed S, Duncan EL, McInerney-Leo AM, Wheeler PG, Roschger P, Klaushofer K, Rai J, Weis M, Eyre D, Schwarze U, Byers PH. Mutations That Alter the Carboxy-Terminal-Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype. J Bone Miner Res. 2018 Jul;33(7):1260-1271. Doi 10.1002/jbmr.3424

Johnson SR, Leo PJ, McInerney-Leo AM, Anderson LK, Marshall M, McGown I, Newell F, Brown MA, Conwell LS, Harris M, Duncan EL. Whole-exome sequencing for mutation detection in pediatric disorders of insulin secretion: Maturity onset diabetes of the young and congenital hyperinsulinism. Pediatr Diabetes. 2018 Jun;19(4):656-662. Doi 10.1111/pedi.12638

McInerney-Leo AM, Wheeler L, Sturm RA, Tan JM, Harris JE, Anderson L, Jagirdar K, Brown MA, Leo PJ, Soyer HP, Duncan EL. Point mutation in p14(ARF) –specific exon 1β of CDKN2A causing familial melanoma and astrocytoma. Br J Dermatol. 2018 Apr;178(4):e263-e264. Doi 10.1111/bjd.16275

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