Germline Variants in Patients Affected by Both Uveal and Cutaneous Melanoma
Johansson, Peter A, Palmer, Jane M, McGrath, Lindsay, Warrier, Sunil, Hamilton, Hayley R, Beckman, Timothy, D'Mellow, Matthew G, Brooks, Kelly M, Glasson, William, Hayward, Nicholas K, Pritchard, Antonia L
Published in Pigment cell and melanoma research (24.09.2024)
Published in Pigment cell and melanoma research (24.09.2024)
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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers
Pritchard, Antonia L, Johansson, Peter A, Nathan, Vaishnavi, Howlie, Madeleine, Symmons, Judith, Palmer, Jane M, Hayward, Nicholas K
Published in PloS one (11.04.2018)
Published in PloS one (11.04.2018)
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The Prognostic and Predictive Value of Melanoma-related MicroRNAs Using Tissue and Serum: A MicroRNA Expression Analysis
Stark, Mitchell S., Klein, Kerenaftali, Weide, Benjamin, Haydu, Lauren E., Pflugfelder, Annette, Tang, Yue Hang, Palmer, Jane M., Whiteman, David C., Scolyer, Richard A., Mann, Graham J., Thompson, John F., Long, Georgina V., Barbour, Andrew P., Soyer, H. Peter, Garbe, Claus, Herington, Adrian, Pollock, Pamela M., Hayward, Nicholas K.
Published in EBioMedicine (01.07.2015)
Published in EBioMedicine (01.07.2015)
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Choroidal melanoma with synchronous Fuchs' adenoma and novel ATRX mutation
Harford, Elli, Palmer, Jane M, Glasson, William J, Warrier, Sunil K, Whitehead, Kevin J, Brooks, Kelly M, Johansson, Peter A, Hayward, Nicholas K, McGrath, Lindsay A
Published in International journal of retina and vitreous (01.04.2022)
Published in International journal of retina and vitreous (01.04.2022)
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Assessment of PALB2 as a candidate melanoma susceptibility gene
Aoude, Lauren G, Xu, Mai, Zhao, Zhen Zhen, Kovacs, Michael, Palmer, Jane M, Johansson, Peter, Symmons, Judith, Trent, Jeffrey M, Martin, Nicholas G, Montgomery, Grant W, Brown, Kevin M, Hayward, Nicholas K
Published in PloS one (20.06.2014)
Published in PloS one (20.06.2014)
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Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4
Johansson, Peter, Aoude, Lauren G, Wadt, Karin, Glasson, William J, Warrier, Sunil K, Hewitt, Alex W, Kiilgaard, Jens Folke, Heegaard, Steffen, Isaacs, Tim, Franchina, Maria, Ingvar, Christian, Vermeulen, Tersia, Whitehead, Kevin J, Schmidt, Christopher W, Palmer, Jane M, Symmons, Judith, Gerdes, Anne-Marie, Jönsson, Göran, Hayward, Nicholas K
Published in Oncotarget (26.01.2016)
Published in Oncotarget (26.01.2016)
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Prolonged stable disease in a uveal melanoma patient with germline MBD4 nonsense mutation treated with pembrolizumab and ipilimumab
Johansson, Peter A., Stark, Andrew, Palmer, Jane M., Bigby, Kieron, Brooks, Kelly, Rolfe, Olivia, Pritchard, Antonia L., Whitehead, Kevin, Warrier, Sunil, Glasson, William, Hayward, Nicholas K.
Published in Immunogenetics (New York) (01.05.2019)
Published in Immunogenetics (New York) (01.05.2019)
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POT1 loss-of-function variants predispose to familial melanoma
Robles-Espinoza, Carla Daniela, Harland, Mark, Ramsay, Andrew J, Aoude, Lauren G, Quesada, Víctor, Ding, Zhihao, Pooley, Karen A, Pritchard, Antonia L, Tiffen, Jessamy C, Petljak, Mia, Palmer, Jane M, Symmons, Judith, Johansson, Peter, Stark, Mitchell S, Gartside, Michael G, Snowden, Helen, Montgomery, Grant W, Martin, Nicholas G, Liu, Jimmy Z, Choi, Jiyeon, Makowski, Matthew, Brown, Kevin M, Dunning, Alison M, Keane, Thomas M, López-Otín, Carlos, Gruis, Nelleke A, Hayward, Nicholas K, Bishop, D Timothy, Newton-Bishop, Julia A, Adams, David J
Published in Nature genetics (01.05.2014)
Published in Nature genetics (01.05.2014)
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Journal Article
Germline Variants in Childhood Cutaneous Melanoma
Johansson, Peter A., Palmer, Jane M., Hamilton, Hayley R., Whiteman, David C., Pritchard, Antonia L., Hayward, Nicholas K.
Published in Journal of investigative dermatology (01.08.2023)
Published in Journal of investigative dermatology (01.08.2023)
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Journal Article
A novel recurrent mutation in MITF predisposes to familial and sporadic melanoma
Yokoyama, Satoru, Woods, Susan L., Boyle, Glen M., Aoude, Lauren G., MacGregor, Stuart, Zismann, Victoria, Gartside, Michael, Cust, Anne E., Haq, Rizwan, Harland, Mark, Taylor, John C., Duffy, David L., Holohan, Kelly, Dutton-Regester, Ken, Palmer, Jane M., Bonazzi, Vanessa, Stark, Mitchell S., Symmons, Judith, Law, Matthew H., Schmidt, Christopher, Lanagan, Cathy, O’Connor, Linda, Holland, Elizabeth A., Schmid, Helen, Maskiell, Judith A., Jetann, Jodie, Ferguson, Megan, Jenkins, Mark A., Kefford, Richard F., Giles, Graham G., Armstrong, Bruce K., Aitken, Joanne F., Hopper, John L., Whiteman, David C., Pharoah, Paul D., Easton, Douglas F., Dunning, Alison M., Newton-Bishop, Julia A., Montgomery, Grant W., Martin, Nicholas G., Mann, Graham J., Bishop, D. Timothy, Tsao, Hensin, Trent, Jeffrey M., Fisher, David E., Hayward, Nicholas K., Brown, Kevin M.
Published in Nature (London) (01.12.2011)
Published in Nature (London) (01.12.2011)
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Journal Article
Nonsense mutations in the shelterin complex genes ACD and TERF2IP in familial melanoma
Aoude, Lauren G, Pritchard, Antonia L, Robles-Espinoza, Carla Daniela, Wadt, Karin, Harland, Mark, Choi, Jiyeon, Gartside, Michael, Quesada, Víctor, Johansson, Peter, Palmer, Jane M, Ramsay, Andrew J, Zhang, Xijun, Jones, Kristine, Symmons, Judith, Holland, Elizabeth A, Schmid, Helen, Bonazzi, Vanessa, Woods, Susan, Dutton-Regester, Ken, Stark, Mitchell S, Snowden, Helen, van Doorn, Remco, Montgomery, Grant W, Martin, Nicholas G, Keane, Thomas M, López-Otín, Carlos, Gerdes, Anne-Marie, Olsson, Håkan, Ingvar, Christian, Borg, Ake, Gruis, Nelleke A, Trent, Jeffrey M, Jönsson, Göran, Bishop, D Timothy, Mann, Graham J, Newton-Bishop, Julia A, Brown, Kevin M, Adams, David J, Hayward, Nicholas K
Published in JNCI : Journal of the National Cancer Institute (01.02.2015)
Published in JNCI : Journal of the National Cancer Institute (01.02.2015)
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Journal Article
Comparative Genomics Provides Etiologic and Biological Insight into Melanoma Subtypes
Newell, Felicity, Johansson, Peter A, Wilmott, James S, Nones, Katia, Lakis, Vanessa, Pritchard, Antonia L, Lo, Serigne N, Rawson, Robert V, Kazakoff, Stephen H, Colebatch, Andrew J, Koufariotis, Lambros T, Ferguson, Peter M, Wood, Scott, Leonard, Conrad, Law, Matthew H, Brooks, Kelly M, Broit, Natasa, Palmer, Jane M, Couts, Kasey L, Vergara, Ismael A, Long, Georgina V, Barbour, Andrew P, Nieweg, Omgo E, Shivalingam, Brindha, Robinson, William A, Stretch, Jonathan R, Spillane, Andrew J, Saw, Robyn P M, Shannon, Kerwin F, Thompson, John F, Mann, Graham J, Pearson, John V, Scolyer, Richard A, Waddell, Nicola, Hayward, Nicholas K
Published in Cancer discovery (02.12.2022)
Published in Cancer discovery (02.12.2022)
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Iris melanoma in an Australian cohort
McGrath, Lindsay A, Warrier, Sunil K, Glasson, William J, D'Mellow, Matthew G, Hamilton, Hayley R, Palmer, Jane M, Brooks, Kelly M, Johansson, Peter A, Hayward, Nicholas K
Published in Clinical & experimental ophthalmology (01.11.2024)
Published in Clinical & experimental ophthalmology (01.11.2024)
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miR-514a regulates the tumour suppressor NF1 and modulates BRAFi sensitivity in melanoma
Stark, Mitchell S, Bonazzi, Vanessa F, Boyle, Glen M, Palmer, Jane M, Symmons, Judith, Lanagan, Catherine M, Schmidt, Christopher W, Herington, Adrian C, Ballotti, Robert, Pollock, Pamela M, Hayward, Nicholas K
Published in Oncotarget (10.07.2015)
Published in Oncotarget (10.07.2015)
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Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing
Stark, Mitchell S, Woods, Susan L, Gartside, Michael G, Bonazzi, Vanessa F, Dutton-Regester, Ken, Aoude, Lauren G, Chow, Donald, Sereduk, Chris, Niemi, Natalie M, Tang, Nanyun, Ellis, Jonathan J, Reid, Jeffrey, Zismann, Victoria, Tyagi, Sonika, Muzny, Donna, Newsham, Irene, Wu, YuanQing, Palmer, Jane M, Pollak, Thomas, Youngkin, David, Brooks, Bradford R, Lanagan, Catherine, Schmidt, Christopher W, Kobe, Bostjan, MacKeigan, Jeffrey P, Yin, Hongwei, Brown, Kevin M, Gibbs, Richard, Trent, Jeffrey, Hayward, Nicholas K
Published in Nature genetics (01.02.2012)
Published in Nature genetics (01.02.2012)
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A rare missense variant in protection of telomeres 1 (POT1) predisposes to a range of haematological malignancies
Nathan, Vaishnavi, Johansson, Peter A., Palmer, Jane M., Hamilton, Hayley R., Howlie, Madeleine, Brooks, Kelly M., Hayward, Nicholas K., Pritchard, Antonia L.
Published in British journal of haematology (01.01.2021)
Published in British journal of haematology (01.01.2021)
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Journal Article
Combined photodynamic therapy and transpupillary thermotherapy for small choroidal melanoma
Rolfe, Olivia J., Stark, Andrew L., Hamilton, Hayley R., D'Mellow, Matthew, Palmer, Jane M., McGrath, Lindsay A., Warrier, Sunil K., Glasson, William J.
Published in Canadian journal of ophthalmology (01.12.2024)
Published in Canadian journal of ophthalmology (01.12.2024)
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Journal Article
Loss-of-function variants in POT1 predispose to uveal melanoma
Nathan, Vaishnavi, Palmer, Jane M, Johansson, Peter A, Hamilton, Hayley R, Warrier, Sunil K, Glasson, William, McGrath, Lindsay A, Kahl, Vivian F S, Vasireddy, Raja S, Pickett, Hilda A, Brooks, Kelly M, Pritchard, Antonia L, Hayward, Nicholas K
Published in Journal of medical genetics (01.04.2021)
Published in Journal of medical genetics (01.04.2021)
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Journal Article
Germline variants in oculocutaneous albinism genes and predisposition to familial cutaneous melanoma
Nathan, Vaishnavi, Johansson, Peter A., Palmer, Jane M., Howlie, Madeleine, Hamilton, Hayley R., Wadt, Karin, Jönsson, Göran, Brooks, Kelly M., Pritchard, Antonia L., Hayward, Nicholas K.
Published in Pigment cell and melanoma research (01.11.2019)
Published in Pigment cell and melanoma research (01.11.2019)
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Journal Article
Melanoma prone families with CDK4 germline mutation: phenotypic profile and associations with MC1R variants
Puntervoll, Hanne Eknes, Yang, Xiaohong R, Vetti, Hildegunn Høberg, Bachmann, Ingeborg M, Avril, Marie Françoise, Benfodda, Meriem, Catricalà, Caterina, Dalle, Stéphane, Duval-Modeste, Anne B, Ghiorzo, Paola, Grammatico, Paola, Harland, Mark, Hayward, Nicholas K, Hu, Hui-Han, Jouary, Thomas, Martin-Denavit, Tanguy, Ozola, Aija, Palmer, Jane M, Pastorino, Lorenza, Pjanova, Dace, Soufir, Nadem, Steine, Solrun J, Stratigos, Alexander J, Thomas, Luc, Tinat, Julie, Tsao, Hensin, Veinalde, Rūta, Tucker, Margaret A, Bressac-de Paillerets, Brigitte, Newton-Bishop, Julia A, Goldstein, Alisa M, Akslen, Lars A, Molven, Anders
Published in Journal of medical genetics (01.04.2013)
Published in Journal of medical genetics (01.04.2013)
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