Protocol to evaluate a pilot program to upskill clinicians in providing genetic testing for familial melanoma von Primiero, Clare A, Finnane, Anna, Yanes, Tatiane, Peach, Betsy, Soyer, H Peter, McInerney-Leo, Aideen M

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Australian researcher's perspectives on the Australian industry‐led moratorium on genetic tests in life insurance von Yanes, Tatiane, Blencoe, Marisa, Howard, Antonia, Tiller, Jane, Wallingford, Courtney, Otlowski, Margaret, Keogh, Louise, Lacaze, Paul, McInerney‐Leo, Aideen

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A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD‐Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis von Gregson, Celia L, Bergen, Dylan J. M., Leo, Paul, Sessions, Richard B, Wheeler, Lawrie, Hartley, April, Youlten, Scott, Croucher, Peter I, McInerney‐Leo, Aideen M, Fraser, William, Tang, Jonathan CY, Anderson, Lisa, Marshall, Mhairi, Sergot, Leon, Paternoster, Lavinia, Davey Smith, George, Brown, Matthew A, Hammond, Chrissy, Kemp, John P, Tobias, Jon H, Duncan, Emma L

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MITF E318K: A rare homozygous case with multiple primary melanoma von Wallingford, Courtney K., Maas, Ellie J., Howard, Antonia, DeBortoli, Emily, Bhanja, Deboshmita, Lee, Katie, Mothershaw, Adam, Jagirdar, Kasturee, Willett, Rod, Betz‐Stablein, Brigid, Sturm, Richard A., Soyer, H. Peter, McInerney‐Leo, Aideen M.

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Multiple Endocrine Tumors Associated with Germline MAX Mutations: Multiple Endocrine Neoplasia Type 5? von Seabrook, Amanda J, Harris, Jessica E, Velosa, Sofia B, Kim, Edward, McInerney-Leo, Aideen M, Dwight, Trisha, Hockings, Jason I, Hockings, Nicholas G, Kirk, Judy, Leo, Paul J, Love, Amanda J, Luxford, Catherine, Marshall, Mhairi, Mete, Ozgur, Pennisi, David J, Brown, Matthew A, Gill, Anthony J, Hockings, Gregory I, Clifton-Bligh, Roderick J, Duncan, Emma L

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Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism von Hassan, Neelam, Gregson, Celia L., Tang, Haotian, Kamp, Marc, Leo, Paul, McInerney‐Leo, Aideen M., Zheng, Jie, Brandi, Maria Luisa, Tang, Jonathan C. Y., Fraser, William, Stone, Michael D., Grundberg, Elin, Brown, Matthew A., Duncan, Emma L., Tobias, Jonathan H.

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Mutations That Alter the Carboxy‐Terminal‐Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype von Cundy, Tim, Dray, Michael, Delahunt, John, Hald, Jannie Dahl, Langdahl, Bente, Li, Chumei, Szybowska, Marta, Mohammed, Shehla, Duncan, Emma L, McInerney‐Leo, Aideen M, Wheeler, Patricia G, Roschger, Paul, Klaushofer, Klaus, Rai, Jyoti, Weis, MaryAnn, Eyre, David, Schwarze, Ulrike, Byers, Peter H

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Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants von Rayner, Jenna E., Duffy, David L., Smit, Darren J., Jagirdar, Kasturee, Lee, Katie J., De'Ambrosis, Brian, Smithers, B. Mark, McMeniman, Erin K., McInerney-Leo, Aideen M., Schaider, Helmut, Stark, Mitchell S., Soyer, H. Peter, Sturm, Richard A.

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The impact of Marfan syndrome on an Aboriginal Australian family: ‘I don’t like it as much as I don’t like cancer von McInerney‐Leo, Aideen M., West, Jennifer, Meiser, Bettina, West, Malcolm, Toombs, Maree R., Brown, Matthew A., Duncan, Emma L.

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Amelanotic/hypopigmented melanoma in a sibship with oculocutaneous albinism von Maas, Ellie J., Wallingford, Courtney K., McGuire, Jessica J., Rutjes, Chantal, Smit, Darren J., Betz‐Stablein, Brigid, Sturm, Richard A., Soyer, H. Peter, McInerney‐Leo, Aideen M.

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Australasian genetic counselors' attitudes toward disability and prenatal testing: Findings from a cross‐sectional survey von Yanes, Tatiane, Nathan, Vaishnavi, Wallingford, Courtney, Faragher, Rhonda, Nankervis, Karen, Jacobs, Chris, Vassos, Maria, Boyle, Fran, Carroll, Annemaree, Smith, Simon, McInerney‐Leo, Aideen

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Short-Rib Polydactyly and Jeune Syndromes Are Caused by Mutations in WDR60 von McInerney-Leo, Aideen M., Schmidts, Miriam, Cortés, Claudio R., Leo, Paul J., Gener, Blanca, Courtney, Andrew D., Gardiner, Brooke, Harris, Jessica A., Lu, Yeping, Marshall, Mhairi, Scambler, Peter J., Beales, Philip L., Brown, Matthew A., Zankl, Andreas, Mitchison, Hannah M., Duncan, Emma L., Wicking, Carol

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Comprehensive genetic screening: The prevalence of maturity‐onset diabetes of the young gene variants in a population‐based childhood diabetes cohort von Johnson, Stephanie R., Ellis, Jonathan J., Leo, Paul J., Anderson, Lisa K., Ganti, Uma, Harris, Jessica E., Curran, Jacqueline A., McInerney‐Leo, Aideen M., Paramalingam, Nirubasini, Song, Xiaoxia, Conwell, Louise S., Harris, Mark, Jones, Timothy W., Brown, Matthew A., Davis, Elizabeth A., Duncan, Emma L.

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A family with partially penetrant multicentric carpotarsal osteolysis due to gonadal mosaicism: First reported case von Närhi, Anu, Fernandes, Andrea, Toiviainen‐Salo, Sanna, Harris, Jessica, McInerney‐Leo, Aideen, Lazarus, Syndia, Avela, Kristiina, Duncan, Emma L.

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A Systematic Review on the Impact of Genetic Testing for Familial Melanoma II: Psychosocial Outcomes and Attitudes von Primiero, Clare A., Yanes, Tatiane, Finnane, Anna, Soyer, H. Peter, McInerney-Leo, Aideen M.

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A Systematic Review on the Impact of Genetic Testing for Familial Melanoma I: Primary and Secondary Preventative Behaviours von Primiero, Clare A., Yanes, Tatiane, Finnane, Anna, Soyer, H. Peter, McInerney-Leo, Aideen M.

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Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls von McInerney-Leo, Aideen M., Duncan, Emma L.

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Waiting for a diagnosis in Rubinstein–Taybi: The journey from “ignorance is bliss” to the value of “a label” von Withers, Chelsea M., Fleming, Jane, Wallingford, Courtney K., Gabbett, Michael T., Peterson, Madelyn, Humphreys, Linda, McInerney‐Leo, Aideen

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Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families von McInerney-Leo, Aideen M., Harris, Jessica E., Gattas, Michael, Peach, Elizabeth E., Sinnott, Stephen, Dudding-Byth, Tracy, Rajagopalan, Sulekha, Barnett, Christopher P., Anderson, Lisa K., Wheeler, Lawrie, Brown, Matthew A., Leo, Paul J., Wicking, Carol, Duncan, Emma L.

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Use of the arm‐span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically challenging von McInerney‐Leo, Aideen M., West, Jennifer A., McGill, Jim J., Brown, Matthew A., Duncan, Emma L., West, Malcolm J.

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