Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls

por McInerney-Leo, Aideen M., Duncan, Emma L.
Publicado 2021

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

por McInerney-Leo, Aideen M., West, Jennifer, Meiser, Bettina, West, Malcolm, Brown, Matthew A., Duncan, Emma
Publicado 2020

Protocol to evaluate a pilot program to upskill clinicians in providing genetic testing for familial melanoma

por Primiero, Clare A., Finnane, Anna, Yanes, Tatiane, Peach, Betsy, Soyer, H. Peter, McInerney-Leo, Aideen M.
Publicado 2022

Factors influencing cancer genetic somatic mutation test ordering by cancer physician

por Demeshko, Anastassia, Pennisi, David J., Narayan, Sushil, Gray, Stacy W., Brown, Matthew A., McInerney-Leo, Aideen M.
Publicado 2020

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

por McInerney‐Leo, Aideen M., West, Jennifer, Wheeler, Lawrie, Leo, Paul J., Summers, Kim M., Anderson, Lisa, Brown, Matthew A., West, Malcolm, Duncan, Emma L.
Publicado 2020

The Future of Precision Prevention for Advanced Melanoma

por Lee, Katie J., Betz-Stablein, Brigid, Stark, Mitchell S., Janda, Monika, McInerney-Leo, Aideen M., Caffery, Liam J., Gillespie, Nicole, Yanes, Tatiane, Soyer, H. Peter
Publicado 2022

Measurable outcomes of consumer engagement in health research: A scoping review

por DeBortoli, Emily, Soyer, H. Peter, Milne, David, Dissanayaka, Nadeeka, Gartner, Coral, Holt, Jeanette, Rae, Kym, Robison, Laura, Wallingford, Courtney K., McInerney-Leo, Aideen M.
Publicado 2022

Community input in a genomic health implementation program: Perspectives of a community advisory group

por Vidgen, Miranda E., Cutler, Katrina, Bean, Jessica, Bunker, David, Fowles, Lindsay F., Healy, Louise, Hondow, Gary, Istiko, Satrio Nindyo, McInerney-Leo, Aideen M., Pratt, Gregory, Robins, Deborah, Waddell, Nicola, Evans, Erin
Publicado 2022

Queensland Consumers’ Awareness and Understanding of Clinical Genetics Services

por Wallingford, Courtney K., Cutler, Katrina, Istiko, Satrio Nindyo, Fowles, Lindsay F., Lamb, Rachel, Bean, Jessica, Healy, Louise, Hondow, Gary, Pratt, Gregory, Vidgen, Miranda E., Waddell, Nicola, Evans, Erin, Bunker, David, McInerney-Leo, Aideen M.
Publicado 2020

Evaluation of the efficacy of 3D total-body photography with sequential digital dermoscopy in a high-risk melanoma cohort: protocol for a randomised controlled trial

por Primiero, Clare Amy, McInerney-Leo, Aideen M, Betz-Stablein, Brigid, Whiteman, David C, Gordon, Louisa, Caffery, Liam, Aitken, Joanne F, Eakin, Elizabeth, Osborne, Sonya, Gray, Len, Smithers, B Mark, Janda, Monika, Soyer, H Peter, Finnane, Anna
Publicado 2019

Mutations in human C2CD3 cause skeletal dysplasia and provide new insights into phenotypic and cellular consequences of altered C2CD3 function

por Cortés, Claudio R., McInerney-Leo, Aideen M., Vogel, Ida, Rondón Galeano, Maria C., Leo, Paul J., Harris, Jessica E., Anderson, Lisa K., Keith, Patricia A., Brown, Matthew A., Ramsing, Mette, Duncan, Emma L., Zankl, Andreas, Wicking, Carol
Publicado 2016

Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants

por 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.
Publicado 2020

A KCNK16 mutation causing TALK-1 gain of function is associated with maturity-onset diabetes of the young

por Graff, Sarah M., Johnson, Stephanie R., Leo, Paul J., Dadi, Prasanna K., Dickerson, Matthew T., Nakhe, Arya Y., McInerney-Leo, Aideen M., Marshall, Mhairi, Zaborska, Karolina E., Schaub, Charles M., Brown, Matthew A., Jacobson, David A., Duncan, Emma L.
Publicado 2021

Evaluation of a Genetics Education Program for Health Interpreters: A Pilot Study

por Vidgen, Miranda E., Fowles, Lindsay F., Istiko, Satrio Nindyo, Evans, Erin, Cutler, Katrina, Sullivan, Kate, Bean, Jessica, Healy, Louise, Hondow, Gary, McInerney-Leo, Aideen M., Pratt, Gregory, Robins, Deborah, Best, Stephanie, Finlay, Keri, Ramarao-Milne, Priya, Waddell, Nicola
Publicado 2022

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

por Lazarus, Syndia, McInerney-Leo, Aideen M, McKenzie, Fiona A, Baynam, Gareth, Broley, Stephanie, Cavan, Barbra V, Munns, Craig F, Pruijs, Johannes Egbertus Hans, Sillence, David, Terhal, Paulien A, Pryce, Karena, Brown, Matthew A, Zankl, Andreas, Thomas, Gethin, Duncan, Emma L
Publicado 2014

Attitudes of Australian dermatologists on the use of genetic testing: A cross-sectional survey with a focus on melanoma

por Primiero, Clare A., Baker, Amy M., Wallingford, Courtney K., Maas, Ellie J., Yanes, Tatiane, Fowles, Lindsay, Janda, Monika, Young, Mary-Anne, Nisselle, Amy, Terrill, Bronwyn, Lodge, Jason M., Tiller, Jane M., Lacaze, Paul, Andersen, Hayley, McErlean, Gemma, Turbitt, Erin, Soyer, H. Peter, McInerney-Leo, Aideen M.
Publicado 2022

A Rare Mutation in SMAD9 Associated With High Bone Mass Identifies the SMAD‐Dependent BMP Signaling Pathway as a Potential Anabolic Target for Osteoporosis

por 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
Publicado 2019

Germline ERBB3 mutation in familial non-small-cell lung carcinoma: expanding ErbB’s role in oncogenesis

por McInerney-Leo, Aideen M, Chew, Hui Yi, Inglis, Po-Ling, Leo, Paul J, Joseph, Shannon R, Cooper, Caroline L, Okano, Satomi, Hassall, Tim, Anderson, Lisa K, Bowman, Rayleen V, Gattas, Michael, Harris, Jessica E, Marshall, Mhairi S, Shaw, Janet G, Wheeler, Lawrie, Yang, Ian A, Brown, Matthew A, Fong, Kwun M, Simpson, Fiona, Duncan, Emma L
Publicado 2021

Reducing exacerbations in children and adults with primary ciliary dyskinesia using erdosteine and/or azithromycin therapy (REPEAT trial): study protocol for a multicentre, double-...

por Chang, Anne B, Morgan, Lucy C, Duncan, Emma L, Chatfield, Mark D, Schultz, André, Leo, Paul J, McCallum, Gabrielle B, McInerney-Leo, Aideen M, McPhail, Steven M, Zhao, Yuejen, Kruljac, Catherine, Smith-Vaughan, Heidi C, Morris, Peter S, Marchant, Julie M, Yerkovich, Stephanie T, Cook, Anne L, Wurzel, Danielle, Versteegh, Lesley, O’Farrell, Hannah, McElrea, Margaret S, Fletcher, Sabine, D'Antoine, Heather, Stroil-Salama, Enna, Robinson, Phil J, Grimwood, Keith
Publicado 2022

The MC1R r allele does not increase melanoma risk in MITF E318K carriers

por Wallingford, Courtney K, Demeshko, Anastassia, Krishnakripa, Asha Krishnankutty, Smit, Darren J, Duffy, David L, Betz-Stablein, Brigid, Pflugfelder, Annette, Jagirdar, Kasturee, Holland, Elizabeth, Mann, Graham J, Primiero, Clare A, Yanes, Tatiane , Malvehy, Josep, Badenas, Cèlia, Carrera, Cristina, Aguilera, Paula, Olsen, Catherine M  , Ward, Sarah V, Haass, Nikolas K, Sturm, Richard A, Puig, Susana , Whiteman, David C  , Law, Matthew H, Cust, Anne E, Potrony, Miriam, Soyer, H  Peter , McInerney-Leo, Aideen M
Publicado 2023