Joanna Crawford
Senior Research Assistant
Institute for Molecular Bioscience
Researcher biography
Joanna held the role of the Operations manager of the Genome Innovation Hub until early in 2019. She was instrumental in starting up the hub and the first projects undertaken. Joanna holds a Master of Science (with a GPA of 9.0) from the University of Victoria, Canada and has over 20 years experience in biomedical research, in both national and international laboratories. She has published over 80 papers, 11 of them as first, or co-first author. Throughout her career she has held positions pioneering techniques at the forefront of technology to explore research questions in the field of molecular biology, with a recent focus on genomics. In 2010 she moved to Brisbane to join a team led by Professor Marcel Dinger at the Institute of Molecular Bioscience (IMB) to develop the CaptureSeq platform, enabling transcriptomic profiling of genes with low levels of expression, previously intractable to analysis by traditional RNA-Seq methodologies. Based on this experience she was recruited to the lab of Dr Ryan Taft at IMB in 2013, joining the first team in the world to exploit familial trio exome sequencing to obtain a clinical diagnosis for a family suffering from a rare unresolved monogenic disorder, finally enabling an end to their long diagnostic odyssey. In 2016 she joined the lab of Dr Cas Simons, continuing her work in the genomics clinical diagnostics space until being recruited as Operations manager by Professor Grant Montgomery to start up the Genome Innovation Hub at IMB in 2018.
| Featured projects | Duration |
|---|---|
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Quantitative transcriptome analysis (CAGE) Genome Innovation Hub Collaborative Project (UQ infrastructure) |
2019 |
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Assembly of complex genome (Macadamia) using single molecule sequencing Genome Innovation Hub Collaborative Project (UQ infrastructure) |
2019 |
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Precise genome editing Genome Innovation Hub Collaborative Project (UQ infrastructure) |
2019 |
Book Chapters
Raghubar, Arti M., Crawford, Joanna, Jones, Kahli, Lam, Pui Y., Andersen, Stacey B., Matigian, Nicholas A., Ng, Monica S Y, Healy, Helen, Kassianos, Andrew J. and Mallett, Andrew J. (2023). Spatial transcriptomics in kidney tissue. Kidney research: experimental protocols. (pp. 233-282) edited by Tim D. Hewitson, Nigel D. Toussaint and Edward R. Smith. New York, NY USA: Humana New York. doi: 10.1007/978-1-0716-3179-9_17
Crawford, Joanna, Partington, Michael, Corbett, Mark, Lower, Karen and Gécz, Jozef (2009). Börjeson-Forssman-Lehmann Syndrome. Genetics of obesity syndromes. (pp. 187-200) edited by Philip L. Beales, I. Sadaf Farooqi and Stephen O'Rahilly. New York, United States: Oxford University Press. doi: 10.1093/med/9780195300161.003.0010
Journal Articles
Raghubar, Arti M., Matigian, Nicholas A., Crawford, Joanna, Francis, Leo, Ellis, Robert, Healy, Helen G., Kassianos, Andrew J., Ng, Monica S. Y., Roberts, Matthew J., Wood, Simon and Mallett, Andrew J. (2023). High risk clear cell renal cell carcinoma microenvironments contain protumour immunophenotypes lacking specific immune checkpoints. npj Precision Oncology, 7 (1) 88, 1-9. doi: 10.1038/s41698-023-00441-5
Marla, Sushma, Mortlock, Sally, Yoon, Sohye, Crawford, Joanna, Andersen, Stacey, Mueller, Michael D., McKinnon, Brett, Nguyen, Quan and Montgomery, Grant W. (2023). Global analysis of transcription start sites and enhancers in endometrial stromal cells and differences associated with endometriosis. Cells, 12 (13) 1736, 1-22. doi: 10.3390/cells12131736
Vo, Tuan, Balderson, Brad, Jones, Kahli, Ni, Guiyan, Crawford, Joanna, Millar, Amanda, Tolson, Elissa, Singleton, Matthew, Kojic, Marija, Robertson, Thomas, Walters, Shaun, Mulay, Onkar, Bhuva, Dharmesh D., Davis, Melissa J., Wainwright, Brandon J., Nguyen, Quan and Genovesi, Laura A. (2023). Spatial transcriptomic analysis of Sonic hedgehog medulloblastoma identifies that the loss of heterogeneity and promotion of differentiation underlies the response to CDK4/6 inhibition. Genome Medicine, 15 (1) 29, 29. doi: 10.1186/s13073-023-01185-4
Raghubar, Arti M., Pham, Duy T., Tan, Xiao, Grice, Laura F., Crawford, Joanna, Lam, Pui Yeng, Andersen, Stacey B., Yoon, Sohye, Teoh, Siok Min, Matigian, Nicholas A., Stewart, Anne, Francis, Leo, Ng, Monica S. Y., Healy, Helen G., Combes, Alexander N., Kassianos, Andrew J., Nguyen, Quan and Mallett, Andrew J. (2022). Spatially resolved transcriptomes of mammalian kidneys illustrate the molecular complexity and interactions of functional nephron segments. Frontiers in Medicine, 9 873923, 873923. doi: 10.3389/fmed.2022.873923
McKinnon, Brett D., Lukowski, Samuel W., Mortlock, Sally, Crawford, Joanna, Atluri, Sharat, Subramaniam, Sugarniya, Johnston, Rebecca L., Nirgianakis, Konstantinos, Tanaka, Keisuke, Amoako, Akwasi, Mueller, Michael D. and Montgomery, Grant W. (2022). Altered differentiation of endometrial mesenchymal stromal fibroblasts is associated with endometriosis susceptibility. Communications Biology, 5 (1) 600, 600. doi: 10.1038/s42003-022-03541-3
Salter, Claire G, Cai, Yiying, Lo, Bernice, Helman, Guy, Taylor, Henry, McCartney, Amber, Leslie, Joseph S, Accogoli, Andrea, Zara, Frederico, Traverso, Monica, Fasham, James, Lees, Joshua A, Ferla, Matteo, Chioza, Barry A, Wenger, Olivia, Scott, Ethan, Cross, Harold E, Crawford, Joanna, Warshawsky, Ilka, Keisling, Matthew, Agamanolis, Dimitris, Melver, Catherine Ward, Cox, Helen, Elawad, Mamoun, Marton, Tamas, Wakeling, Matthew, Holzinger, Dirk, Tippelt, Stephan, Munteanu, Martin ... Baple, Emma L (2021). Biallelic PI4KA variants cause neurological, intestinal and immunological disease. Brain, 144 (12), 3597-3610. doi: 10.1093/brain/awab313
Helman, Guy, Lajoie, Bryan R., Crawford, Joanna, Takanohashi, Asako, Walkiewicz, Marzena, Dolzhenko, Egor, Gross, Andrew M., Gainullin, Vladimir G., Bent, Stephen J., Jenkinson, Emma M., Ferdinandusse, Sacha, Waterham, Hans R., Dorboz, Imen, Bertini, Enrico, Miyake, Noriko, Wolf, Nicole, Abbink, Truus E. M., Kirwin, Susan M., Tan, Christina M., Hobson, Grace M., Guo, Long, Ikegawa, Shiro, Pizzino, Amy, Schmidt, Johanna L., Bernard, Genevieve, Schiffmann, Raphael, van der Knaap, Marjo S., Simons, Cas, Taft, Ryan J. and Vanderver, Adeline (2020). Genome sequencing in persistently unsolved white matter disorders. Annals of Clinical and Translational Neurology, 7 (1), 144-152. doi: 10.1002/acn3.50957
Xu, Jun, Falconer, Caitlin, Nguyen, Quan, Crawford, Joanna, McKinnon, Brett D., Mortlock, Sally, Senabouth, Anne, Andersen, Stacey, Chiu, Han Sheng, Jiang, Longda, Palpant, Nathan J., Yang, Jian, Mueller, Michael D., Hewitt, Alex W., Pébay, Alice, Montgomery, Grant W., Powell, Joseph E. and Coin, Lachlan J. M. (2019). Genotype-free demultiplexing of pooled single-cell RNA-seq. Genome Biology, 20 (1) 290, 290. doi: 10.1186/s13059-019-1852-7
Hudson, Rebecca, Patel, Chirag, Hawley, Carmel M., O'Shea, Stacey, Snelling, Paul, Ho, Gladys, Holman, Katherine, Bennetts, Bruce, Crawford, Joanna, Francis, Leo, Simons, Cas and Mallett, Andrew (2019). Adult-diagnosed nonsyndromic nephronophthisis in Australian families caused by biallelic NPHP4 variants. American Journal of Kidney Diseases, 76 (2), 282-287. doi: 10.1053/j.ajkd.2019.08.031
Yan, Huifang, Helman, Guy, Murthy, Swetha E., Ji, Haoran, Crawford, Joanna, Kubisiak, Thomas, Bent, Stephen J., Xiao, Jiangxi, Taft, Ryan J., Coombs, Adam, Wu, Ye, Pop, Ana, Li, Dongxiao, de Vries, Linda S., Jiang, Yuwu, Salomons, Gajja S., van der Knaap, Marjo S., Patapoutian, Ardem, Simons, Cas, Burmeister, Margit, Wang, Jingmin and Wolf, Nicole I. (2019). Heterozygous variants in the mechanosensitive ion channel TMEM63A result in transient hypomyelination during infancy. American Journal of Human Genetics, 105 (5), 996-1004. doi: 10.1016/j.ajhg.2019.09.011
Kanca, Oguz, Andrews, Jonathan C., Lee, Pei-Tseng, Patel, Chirag, Braddock, Stephen R., Slavotinek, Anne M., Cohen, Julie S., Gubbels, Cynthia S., Aldinger, Kimberly A., Williams, Judy, Indaram, Maanasa, Fatemi, Ali, Yu, Timothy W., Agrawal, Pankaj B., Vezina, Gilbert, Simons, Cas, Crawford, Joanna, Lau, C. Christopher, Acosta, Maria T., Adams, David R., Agrawal, Pankaj, Alejandro, Mercedes E., Allard, Patrick, Alvey, Justin, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney ... Dobyns, William B. (2019). Erratum: De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia (The American Journal of Human Genetics (2019) 105(2) (413–424), (S0002929719302393), (10.1016/j.ajhg.2019.06.014)). American Journal of Human Genetics, 105 (3), 672-674. doi: 10.1016/j.ajhg.2019.07.017
Kanca, Oguz, Andrews, Jonathan C., Lee, Pei-Tseng, Patel, Chirag, Braddock, Stephen R., Slavotinek, Anne M., Cohen, Julie S., Gubbels, Cynthia S., Aldinger, Kimberly A., Williams, Judy, Indaram, Maanasa, Fatemi, Ali, Yu, Timothy W., Agrawal, Pankaj B., Vezina, Gilbert, Simons, Cas, Crawford, Joanna, Lau, C. Christopher, Acosta, Maria T., Adams, David R., Agrawal, Pankaj, Alejandro, Mercedes E., Allard, Patrick, Alvey, Justin, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, G. ... Dobyns, William B. (2019). De Novo variants in WDR37 are associated with epilepsy, colobomas, dysmorphism, developmental delay, intellectual disability, and cerebellar hypoplasia. American Journal of Human Genetics, 105 (2), 413-424. doi: 10.1016/j.ajhg.2019.06.014
van der Knaap, Marjo S., Bugiani, Marianna, Mendes, Marisa I., Riley, Lisa G., Smith, Desiree E.C., Rudinger-Thirion, Joëlle, Frugier, Magali, Breur, Marjolein, Crawford, Joanna, van Gaalen, Judith, Schouten, Meyke, Willems, Marjolaine, Waisfisz, Quinten, Mau-Them, Frederic Tran, Rodenburg, Richard J., Taft, Ryan J., Keren, Boris, Christodoulou, John, Depienne, Christel, Simons, Cas, Salomons, Gajja S. and Mochel, Fanny (2019). Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy. Neurology, 92 (11), e1225-e1237. doi: 10.1212/wnl.0000000000007098
Helman, Guy, Sharma, Suvasini, Crawford, Joanna, Patra, Bijoy, Jain, Puneet, Bent, Stephen J., Urtizberea, J. Andoni, Saran, Ravindra K., Taft, Ryan J., van der Knaap, Marjo S. and Simons, Cas (2019). Leukoencephalopathy due to variants in GFPT1-associated congenital myasthenic syndrome. Neurology, 92 (6), e587-e593. doi: 10.1212/wnl.0000000000006886
Mallett, Andrew J., Quinlan, Catherine, Patel, Chirag, Fowles, Lindsay, Crawford, Joanna, Gattas, Michael, Baer, Richard, Bennetts, Bruce, Ho, Gladys, Holman, Katherine and Simons, Cas (2019). Precision medicine diagnostics for rare kidney disease: Twitter as a tool in clinical genomic translation. Kidney Medicine, 1 (5), 315-318. doi: 10.1016/j.xkme.2019.06.006
Forbes, Thomas A., Howden, Sara E., Lawlor, Kynan, Phipson, Belinda, Maksimovic, Jovana, Hale, Lorna, Wilson, Sean, Quinlan, Catherine, Ho, Gladys, Holman, Katherine, Bennetts, Bruce, Crawford, Joanna, Trnka, Peter, Oshlack, Alicia, Patel, Chirag, Mallett, Andrew, Simons, Cas and Little, Melissa H. (2018). Patient-iPSC-derived kidney organoids show functional validation of a ciliopathic renal phenotype and reveal underlying pathogenetic mechanisms. American Journal of Human Genetics, 102 (5), 816-831. doi: 10.1016/j.ajhg.2018.03.014
Deveson, Ira W., Brunck, Marion E., Blackburn, James, Tseng, Elizabeth, Hon, Ting, Clark, Tyson A., Clark, Michael B., Crawford, Joanna, Dinger, Marcel E., Nielsen, Lars K., Mattick, John S. and Mercer, Tim R. (2018). Universal Alternative Splicing of Noncoding Exons. Cell Systems, 6 (2), 245-255. doi: 10.1016/j.cels.2017.12.005
Bartonicek, N., Clark, M. B., Quek, X. C., Torpy, J. R., Pritchard, A. L., Maag, J. L. V., Gloss, B. S., Crawford, J., Taft, R. J., Hayward, N. K., Montgomery, G. W., Mattick, J. S., Mercer, T. R. and Dinger, M. E. (2017). Intergenic disease-associated regions are abundant in novel transcripts. Genome biology, 18 (241) 241, 241. doi: 10.1186/s13059-017-1363-3
Choudhary, Anupma, Vanichkina, Darya P., Ender, Christine, Crawford, Joanna, Baillie, Gregory, Calcino, Andrew, Ru, Kelin and Taft, Ryan (2017). Identification of miR-29b targets using 3-cyanovinylcarbazole containing mimics. RNA, 24 (4), 597-608. doi: 10.1261/rna.064923.117
Simons, Cas, Dyment, David, Bent, Stephen J., Crawford, Joanna, D'Hooghe, Marc, Kohlschuetter, Alfried, Venkateswaran, Sunita, Helman, Guy, Poll-The, Bwee-Tien, Makowski, Christine C., Ito, Yoko, Kernohan, Kristin, Hartley, Taila, Waisfisz, Quinten, Taft, Ryan J., van der Knaap, Marjo S. and Wolf, Nicole I. (2017). A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy. Brain, 140 (12), 3105-3111. doi: 10.1093/brain/awx314
Miyake, Noriko, Wolf, Nicole I., Cayami, Ferdy K., Crawford, Joanna, Bley, Annette, Bulas, Dorothy, Conant, Alex, Bent, Stephen J., Gripp, Karen W., Hahn, Andreas, Humphray, Sean, Kimura-Ohba, Shihoko, Kingsbury, Zoya, Lajoie, Bryan R., Lal, Dennis, Micha, Dimitra, Pizzino, Amy, Sinke, Richard J., Sival, Deborah, Stolte-Dijkstra, Irene, Superti-Furga, Andrea, Ulrick, Nicole, Taft, Ryan J., Ogata, Tsutomu, Ozono, Keiichi, Matsumoto, Naomichi, Neubauer, Bernd A., Simons, Cas and Vanderver, Adeline (2017). X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1. Neurogenetics, 18 (4), 185-194. doi: 10.1007/s10048-017-0520-x
Betts, Joshua A., Moradi Marjaneh, Mahdi, Al-Ejeh, Fares, Lim, Yi Chieh, Shi, Wei, Sivakumaran, Haran, Tropee, Romain, Patch, Ann.-Marie, Clark, Michael B., Bartonicek, Nenad, Wiegmans, Adrian P., Hillman, Kristine M., Kaufmann, Susanne, Bain, Amanda L., Gloss, Brian S., Crawford, Joanna, Kazakoff, Stephen, Wani, Shivangi, Wen Shu W., Day, Bryan, Moller, Andreas, Cloonan, Nicole, Pearson,John, Brown, Melissa A., Mercer, Timothy R., Waddell, Nicola, Khanna, Kum Kum, Dray, Eloise, Dinger, Marcel E. ... French, Juliet D. (2017). Long noncoding RNAs CUPID1 and CUPID2 mediate breast cancer risk at 11q13 by modulating the response to DNA damage. American Journal of Human Genetics, 101 (2), 255-266. doi: 10.1016/j.ajhg.2017.07.007
Crawford, Joanna, Bower, Neil I., Hogan, Benjamin M., Taft, Ryan J., Gabbett, Michael T., McGaughran, Julie and Simons, Cas (2016). Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome. American Journal of Medical Genetics, Part A, 170 (10), 2694-2697. doi: 10.1002/ajmg.a.37803
Vanderver, Adeline, Simons, Cas, Helman, Guy, Crawford, Joanna, Wolf, Nicole I., Bernard, Genevieve, Pizzino, Amy, Schmidt, Johanna L., Takanohashi, Asako, Miller, David, Khouzam, Amirah, Rajan, Vani, Ramos, Erica, Chowdhury, Shimul, Hambuch, Tina, Ru, Ke-Lin, Baillie, Gregory J., Grimmond, Sean M., Caldovic, Ljubica, Devaney, Joseph, Bloom, Miriam, Evans, Sarah H., Murphy, Jennifer L. P., McNeill, Nathan, Fogel, Brent L., Schiffmann, Raphael, van der Knaap, Marjo S. and Taft, Ryan J. (2016). Whole exome sequencing in patients with white matter abnormalities. Annals of Neurology, 79 (6), 1031-1037. doi: 10.1002/ana.24650
Bell, Charles C., Amaral, Paulo P., Kalsbeek, Anton, Magor, Graham W., Gillinder, Kevin R., Tangermann, Pierre, di Lisio, Lorena, Cheetham, Seth W., Gruhl, Franziska, Frith, Jessica, Tallack, Michael R., Ru, Ke-Lin, Crawford, Joanna, Mattick, John S., Dinger, Marcel E. and Perkins, Andrew C. (2016). The Evx1/Evx1as gene locus regulates anterior-posterior patterning during gastrulation. Scientific Reports, 6 (1) 26657, 26657. doi: 10.1038/srep26657
Bussotti, Giovanni, Leonardi, Tommaso, Clark, Michael B., Mercer, Tim R., Crawford, Joanna, Malquori, Lorenzo, Notredame, Cedric, Dinger, Marcel E., Mattick, John S. and Enright, Anton J. (2016). Improved definition of the mouse transcriptome via targeted RNA sequencing. Genome Research, 26 (5), 705-716. doi: 10.1101/gr.199760.115
Simons, Cas, Griffin, Laurie B., Helman, Guy, Golas, Gretchen, Pizzino, Amy, Bloom, Miriam, Murphy, Jennifer L. P., Crawford, Joanna, Evans, Sarah H., Topper, Scott, Whitehead, Matthew T., Schreiber, John M., Chapman, Kimberly A., Tifft, Cyndi, Lu, Katrina B., Gamper, Howard, Shigematsu, Megumi, Taft, Ryan J., Antonellis, Anthony, Hou, Ya-Ming and Vanderver, Adeline (2015). Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect. American Journal of Human Genetics, 96 (4), 675-681. doi: 10.1016/j.ajhg.2015.02.012
Corbett, Mark A., Dudding-Byth, Tracy, Crock, Patricia A., Botta, Elena, Christie, Louise M., Nardo, Tiziana, Caligiuri, Giuseppina, Hobson, Lynne, Boyle, Jackie, Mansour, Albert, Friend, Kathryn L., Crawford, Jo, Jackson, Graeme, Vandeleur, Lucianne, Hackett, Anna, Tarpey, Patrick, Stratton, Michael R., Turner, Gillian, Gécz, Jozef and Field, Michael (2015). A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A. Journal of Medical Genetics, 52 (4), 269-74. doi: 10.1136/jmedgenet-2014-102418
Clark, Michael B., Mercer, Tim R., Bussotti, Giovanni, Leonardi, Tommaso, Haynes, Katelin R., Crawford, Joanna, Brunck, Marion E., Cao, Kim-Anh Le, Thomas, Gethin P., Chen, Wendy Y., Taft, Ryan J., Nielsen, Lars K., Enright, Anton J., Mattick, John S. and Dinger, Marcel E. (2015). Quantitative gene profiling of long noncoding RNAs with targeted RNA sequencing. Nature Methods, 12 (4), 339-342. doi: 10.1038/nmeth.3321
Simons, Cas, Rash, Lachlan D., Crawford, Joanna, Ma, Linlin, Cristofori-Armstrong, Ben, Miller, David, Ru, Kelin, Baillie, Gregory J., Alanay, Yasemin, Jacquinet, Adeline, Debray, Franois-Guillaume, Verloes, Alain, Shen, Joseph, Yesil, Goezde, Guler, Serhat, Yuksel, Adnan, Cleary, John G., Grimmond, Sean M., McGaughran, Julie, King, Glenn F., Gabbett, Michael T. and Taft, Ryan J. (2015). Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy (vol 47, pg 73, 2015). Nature Genetics, 47 (3), 304-304. doi: 10.1038/ng0315-304b
Mercer, Tim R., Clark, Michael B., Anderson, Stacey B., Brunck, Marion E., Haerty, Wilifried, Crawford, Joanna, Taft, Ryan J., Nielsen, Lars K., Dinger, Marcel E. and Mattick, John S. (2015). Genome-wide discovery of human splicing branchpoints. Genome Research, 25 (2), 290-303. doi: 10.1101/gr.182899.114
Simons Cas, Rash, Lachlan D., Crawford, Joanna, Ma, Linlin, Cristofori-Armstrong, Ben, Miller, David, Ru, Kelin, Baillie, Gregory J., Alanay, Yasemin, Jacquinet, Adeline, Debray, François-Guillaume, Verloes, Alain, Shen, Joseph, Yesil, Gözde, Guler, Serhat, Yuksel, Adnan, Cleary, John G., Grimmond, Sean M., McGaughran, Julie, King, Glenn F., Gabbett, Michael T. and Taft, Ryan J. (2015). Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy. Nature Genetics, 47 (1), 73-77. doi: 10.1038/ng.3153
Mercer, Tim R., Clark, Michael B., Crawford, Joanna, Brunck, Marion E., Gerhardt, Daniel J., Taft, Ryan J., Nielsen, Lars K., Dinger, Marcel E. and Mattick, John S. (2014). Targeted sequencing for gene discovery and quantification using RNA CaptureSeq. Nature Protocols, 9 (5), 989-1009. doi: 10.1038/nprot.2014.058
Taft, Ryan J., Vanderver, Adeline, Leventer, Richard J., Damiani, Stephen A., Simons, Cas, Grimmond, Sean M., Miller, David, Schmidt, Johanna, Lockhart, Paul J., Pope, Kate, Ru, Kelin, Crawford, Joanna, Rosser, Tena, de Coo, Irenaeus F. M., Juneja, Monica, Verma, Ishwar C., Prabhakar, Prab, Blaser, Susan, Raiman, Julian, Pouwels, Petra J. W., Bevova, Marianna R., Abbink, Truus E. M., van der Knaap, Marjo S. and Wolf, Nicole I. (2013). Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity. American Journal of Human Genetics, 92 (5), 774-780. doi: 10.1016/j.ajhg.2013.04.006
Simons, Cas, Wolf, Nicole I., McNeil, Nathan, Caldovic, Ljubica, Devaney, Joseph M., Takanohashi, Asako, Crawford, Joanna, Ru, Kelin, Grimmond, Sean M., Miller, David, Tonduti, Davide, Schmidt, Johanna L., Chudnow, Robert S., van Coster, Rudy, Lagae, Lieven, Kisler, Jill, Sperner, Juergen, van der Knaap, Marjo S., Schiffmann, Raphael, Taft, Ryan J. and Vanderver, Adeline (2013). A de novo mutation in the beta-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. American Journal of Human Genetics, 92 (5), 767-773. doi: 10.1016/j.ajhg.2013.03.018
Tonkin, Michelle L., Crawford, Joanna, Lebrun, Maryse L. and Boulanger, Martin J. (2012). Babesia divergens and Neospora caninumapical membrane antigen 1 structures reveal selectivity and plasticity in apicomplexan parasite host cell invasion. Protein Science, 22 (1), 114-127. doi: 10.1002/pro.2193
Smart, Chanel E., Askarian Amiri, Marjan E., Wronski, Ania, Dinger, Marcel E., Crawford, Joanna, Ovchinnikov, Dmitry A., Vargas, Ana Cristina, Reid, Lynne, Simpson, Peter T., Song, Sarah, Wiesner, Christiane, French, Juliet D., Dave, Richa K., da Silva, Leonard, Purdon, Amy, Andrew, Megan, Mattick, John S., Lakhani, Sunil R., Brown, Melissa A. and Kellie, Stuart (2012). Expression and function of the protein tyrosine phosphatase receptor J (PTPRJ) in normal mammary epithelial cells and breast tumors. PLoS One, 7 (7) e40742, e40742.1-e40742.13. doi: 10.1371/journal.pone.0040742
Mercer, Tim R., Gerhardt, Daniel J., Dinger, Marcel E., Crawford, Joanna, Trapnell, Cole, Jeddeloh, Jeffrey A., Mattick, John S. and Rinn, John L. (2012). Targeted RNA sequencing reveals the deep complexity of the human transcriptome. Nature Biotechnology, 30 (1), 99-104. doi: 10.1038/nbt.2024
Mercer, Tim R., Neph, Shane, Dinger, Marcel E., Crawford, Joanna, Smith, Martin A., Shearwood, Anne-Marie J., Haugen, Eric, Bracken, Cameron P., Rackham, Oliver, Stamatoyannopoulos, John A., Filipovska, Aleksandra and Mattick, John S. (2011). The human mitochondrial transcriptome. Cell, 146 (4), 645-658. doi: 10.1016/j.cell.2011.06.051
Tonkin, M. L., Roques, M., Lamarque, M. H., Pugniere, M., Douguet, D., Crawford, J., Lebrun, M. and Boulanger, M. J. (2011). Host cell invasion by apicomplexan parasites: insights from the co-structure of AMA1 with a RON2 peptide. Science, 333 (6041), 463-467. doi: 10.1126/science.1204988
Khaitan, Divya, Dinger, Marcel E., Mazar, Joseph, Crawford, Joanna, Smith, Martin A., Mattick, John S. and Perera, Ranjan J. (2011). The melanoma-upregulated long noncoding RNA SPRY4-IT1 modulates apoptosis and invasion. Cancer Research, 71 (11), 3852-3862. doi: 10.1158/0008-5472.CAN-10-4460
Askarian-Amiri, Marjan E., Crawford, Joanna, French, Juliet D., Smart, Chanel E., Smith, Martin A., Clark, Michael B., Ru, Kelin, Mercer, Tim R., Thompson, Ella R., Lakhani, Sunil R., Vargas, Ana C., Campbell, Ian G., Brown, Melissa A., Dinger, Marcel E. and Mattick, John S. (2011). SNORD-host RNA Zfas1 is a regulator of mammary development and a potential marker for breast cancer. RNA, 17 (5), 878-891. doi: 10.1261/rna.2528811
Tonkin, Michelle L., Grujic, Ognjen, Pearce, Mark, Crawford, Joanna and Boulanger, Martin J. (2010). Structure of the micronemal protein 2 A/I domain from Toxoplasma gondii. Protein Science, 19 (10), 1985-1990. doi: 10.1002/pro.477
Boulanger, Martin J., Tonkin, Michelle L. and Crawford, Joanna (2010). Apicomplexan parasite adhesins: novel strategies for targeting host cell carbohydrates. Current Opinion in Structural Biology, 20 (5), 551-559. doi: 10.1016/j.sbi.2010.08.000
Crawford, Joanna, Tonkin, Michelle L., Grujic, Ognjen and Boulanger, Martin J. (2010). Structural characterization of apical membrane antigen 1 (AMA1) from Toxoplasma gondii. Journal of Biological Chemistry, 285 (20), 15644-15652. doi: 10.1074/jbc.M109.092619
Crawford, Joanna, Lamb, Erika, Wasmuth, James, Grujic, Ognjen, Grigg, Michael E. and Boulanger, Martin J. (2010). Structural and functional characterization of SporoSAG: a SAG2-related surface antigen from Toxoplasma gondii. Journal of Biological Chemistry, 285 (16), 12063-12070. doi: 10.1074/jbc.M109.054866
Crawford, Joanna, Grujic, Ognjen, Bruic, Ekaterina, Czjzek, Mirjam, Grigg, Michael E. and Boulanger, Martin J. (2009). Structural characterization of the bradyzoite surface antigen (BSR4) from Toxoplasma gondii, a unique addition to the surface antigen glycoprotein 1-related superfamily. Journal of Biological Chemistry, 284 (14), 9192-9198. doi: 10.1074/jbc.m808714200
Kumar, Raman, Neilsen, Paul M., Crawford, Joanne, McKirdy, Ross, Lee, Jaclyn, Powell, Jason A., Saif, Zarqa, Martin, Julie M., Lombaerts, Marc, Cornelisse, Cees J., Cleton-Jansen, Anne-Marie and Callen, David F. (2005). FBXO31 is the chromosome 16q24.3 senescence gene, a candidate breast tumor suppressor, and a component of an SCF complex. Cancer Research, 65 (24), 11304-11313. doi: 10.1158/0008-5472.can-05-0936
Kumar, Raman, Neilsen, Paul M., Crawford, Joanne, McKirdy, Ross, Lee, Jaclyn, Powell, Jason A., Saif, Zarqa, Martin, Julie M., Lombaerts, Marc, Cornelisse, Cees J., Cleton-Jansen, Anne-Marie and Callen, David F. (2005). FBXO31 is the chromosome 16q24.3 senescence gene, a candidate breast tumor suppressor, and a component of an SCF complex. Cancer Research, 65 (24), 11304-11313. doi: 10.1158/0008-5472.CAN-05-0936
Crawford, J., Lower, K. M., Hennekam, R. C. M. , Van Esch, H. , Megarbane, A. , Lynch, S. A. , Turner, G. and Gecz, J. (2005). Mutation screening in Borjeson-Forssman-Lehmann syndrome: identification of a novel de novo PHF6 mutation in a female patient. Journal of Medical Genetics, 43 (3), 238-243. doi: 10.1136/jmg.2005.033084
Lower, Karen M., Solders, Göran, Bondeson, Marie-Louise, Nelson, John, Brun, Arne, Crawford, Joanna, Malm, Gunilla, Börjeson, Mats, Turner, Gillian, Partington, Michael and Gécz, Jozef (2004). 1024C > T (R342X) is a recurrent PHF6 mutation also found in the original Borjeson-Forssman-Lehmann syndrome family. European Journal of Human Genetics, 12 (10), 787-789. doi: 10.1038/sj.ejhg.5201228
Bhalla, Kavita, Phillips, Hilary A., Crawford, Joanna, McKenzie, Olivia L. D., Mulley, John C., Eyre, Helen, Gardner, Alison E., Kremmidiotis, Gabriel and Callen, David F. (2004). The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene. Journal of Human Genetics, 49 (6), 308-311. doi: 10.1007/s10038-004-0145-4
Powell, Jason A., Gardner, Alison E. , Bais, Anthony J. , Hinze, Susan J. , Baker, Elizabeth, Whitmore, Scott, Crawford, Joanna, Kochetkova, Marina, Spendlove, Hayley E., Doggett, Norman A., Sutherland, Grant R. , Callen, David F. and Kremmidiotis, Gabriel (2002). Sequencing, transcript identification, and quantitative gene expression profiling in the breast cancer loss of heterozygosity region 16q24.3 reveal three potential tumor-suppressor genes. Genomics, 80 (3), 303-310. doi: 10.1006/geno.2002.6828
Kochetkova, M., McKenzie, O.L., Bais, A.J., Martin, J.M., Secker, G.A., Seshadri, R., Powell, J.A., Hinze, S.J., Gardner, A.E., Spendlove, H.E., O'Callaghan, N.J., Cleton-Jansen, A.M., Cornelisse, C., Whitmore, S.A., Crawford, J., Kremmidiotis, G., Sutherland, G.R. and Callen, D.F. (2002). CBFA2T3 (MTG16) is a putative breast tumor suppressor gene from the breast cancer loss of heterozygosity region at 16q24.3. Cancer Research, 62 (16), 4599-4604.
Crawford, Joanna, Zielinski, Marta A., Fisher, Laura J., Sutherland, Grant R. and Goldney, Robert D. (2002). Is there a relationship between Wolfram syndrome carrier status and suicide?. American Journal of Medical Genetics, 114 (3), 343-346. doi: 10.1002/ajmg.10256
Callen, David F., Crawford, Joanne, Derwas, Cathy, Cleton-Jansen, Anne-Marie, Cornelisse, Cees J. and Baker, Elizabeth (2002). Defining regions of loss of heterozygosity of 16q in breast cancer cell lines. Cancer Genetics and Cytogenetics, 133 (1), 76-82. doi: 10.1016/S0165-4608(01)00565-9
McRae, Jennifer L., Murphy, Brendan F., Eyre, Helen J., Sutherland, Grant R., Crawford, Joanna and Cowan, Peter J. (2002). Location and structure of the human FHR-5 gene. Genetica, 114 (2), 157-161. doi: 10.1023/A:1015114512924
Cleton-Jansen, A.M., Callen, D.F., Seshadri, R., Goldup, S., McCallum, B., Crawford, J., Powell, J.A., Settasatian, C., van Beerendonk, H., Moerland, E.W., Smit, V.T.B.H.M., Harris, W.H., Millis, R., Morgan, N.V., Barnes, D., Mathew, C.G. and Cornelisse, C.J. (2001). Loss of heterozygosity mapping at chromosome arm 16q in 712 breast tumors reveals factors that influence delineation of candidate regions. Cancer Research, 61 (3), 1171-1177.
Hulett, Mark D., Pagler, Eloisa, Hornby, June R., Hogarth, P.Mark, Eyre, Helen J., Baker, Elizabeth, Crawford, Joanna, Sutherland, Grant R., Ohms, Stephen J. and Parish, Christopher R. (2001). Isolation, tissue distribution, and chromosomal localization of a novel testis-specific human four-transmembrane gene related to CD20 and FcϵRI-β. Biochemical and Biophysical Research Communications, 280 (1), 374-379. doi: 10.1006/bbrc.2000.4088
Crawford, Joanna, Sutherland, Grant R. and Goldney, Robert D. (2000). No evidence for association of 5-HT2A receptor polymorphism with suicide. American Journal of Medical Genetics, 96 (6), 879-880. doi: 10.1002/1096-8628(20001204)96:6<879::aid-ajmg39>3.0.co;2-m
Parker, Rachel M. C., Copeland, Neal G., Eyre, Helen J., Liu, Marjorie, Gilbert, Debra J., Crawford, Joanna, Couzens, Michelle, Sutherland, Grant R., Jenkins, Nancy A. and Herzog, Herbert (2000). Molecular cloning and characterisation of GPR74 a novel G-protein coupled receptor closest related to the Y-receptor family. Molecular Brain Research, 77 (2), 199-208. doi: 10.1016/S0169-328X(00)00052-8
Parker, Rachel, Liu, Marjorie, Eyre, Helen J., Copeland, Neal G., Gilbert, Debra J., Crawford, Joanna, Sutherland, Grant R., Jenkins, Nancy A. and Herzog, Herbert (2000). Y-receptor-like genes GPR72 and GPR73: molecular cloning, genomic organisation and assignment to human chromosome 11q21.1 and 2p14 and mouse chromosome 9 and 6. Biochimica Et Biophysica Acta-Gene Structure and Expression, 1491 (1-3), 369-375. doi: 10.1016/S0167-4781(00)00023-3
Savino, Maria, d'Apolito, Maria, Centra, Marta, van Beerendonk, Hetty M., Cleton-Jansen, Anne-Marie, Whitmore, Scott A., Crawford, Joanna, Callen, David F., Zelante, Leopoldo and Savoia, Anna (1999). Characterization of copine VII, a new member of the copine family, and its exclusion as a candidate in sporadic breast cancers with loss of heterozygosity at 16q24.3. Genomics, 61 (2), 219-226. doi: 10.1006/geno.1999.5958
Crawford, J., Hort, Y. J., Shine, J. and Iismaa, T. P. (1999). Human GALR1 galanin receptor (GALNR1) - map position 18q23. Chromosome Research, 7 (3), 243-243. doi: 10.1023/A:1009259618673
Settasatian, Chatri, Whitmore, Scott A. , Crawford, Joanna, Bilton, Rebecca L., Cleton-Jansen, Anne-Marie , Sutherland, Grant R. and Callen, David F. (1999). Genomic structure and expression analysis of the spastic paraplegia gene, SPG7. Human Genetics, 105 (1-2), 139-144. doi: 10.1007/s004399900087
Baker, E., Crawford, J., Sutherland, G. R., Freeman, C., Parish, C. R. and Hulett, M. D. (1999). Human HPA endoglycosidase heparanase - Map position 4q21.3. Chromosome Research, 7 (4), 319-319. doi: 10.1023/A:1009235132576
Hiki, Kazuaki, D'Andrea, Richard J., Furze, Jill, Crawford, Joanna, Woollatt, Erica, Sutherland, Grant R., Vadas, Mathew A. and Gamble, Jennifer R. (1999). Cloning, characterization, and chromosomal location of a novel human K+-Cl- cotransporter. Journal of Biological Chemistry, 274 (15), 10661-10667. doi: 10.1074/jbc.274.15.10661
Cleton-Jansen, A. M., Moerland, E. W., Pronk, J. C., van Berkel, C. G. M., Apostolou, S., Crawford, J., Savoia, A., Auerbach, A. D., Mathew, C. G., Callen, D. F. and Cornelisse, C. J. (1999). Mutation analysis of the Fanconi anaemia A gene in breast tumours with loss of heterozygosity at 16q24.3. British Journal of Cancer, 79 (7-8), 1049-1052. doi: 10.1038/sj.bjc.6690168
Crawford, Joanna, Ianzano, Leonarda, Savino, Maria, Whitmore, Scott, Cleton-Jansen, Anne-Marie, Settasatian, Chatri, d'Apolito, Maria, Seshadri, Ram, Pronk, Jan C., Auerbach, Arleen D., Verlander, Peter C., Mathew, Christopher G., Tipping, Alex J., Doggett, Norman A., Zelante, Leopoldo, Callen, David F. and Savoia, Anna (1999). The PISSLRE gene: structure, exon skipping, and exclusion as tumor suppressor in breast cancer. Genomics, 56 (1), 90-97. doi: 10.1006/geno.1998.5676
Liu, Marjorie, Parker, Rachel M. C., Darby, Karen, Eyre, Helen J., Copeland, Neal G., Crawford, Joanna, Gilbert, Debra J., Sutherland, Grant R., Jenkins, Nancy A. and Herzog, Herbert (1999). GPR56, a novel secretin-like human G-protein-coupled receptor gene. Genomics, 55 (3), 296-305. doi: 10.1006/geno.1998.5644
Keough, Rebecca, Woollatt, Erica, Crawford, Joanna, Sutherland, Grant R., Plummer, Sarah, Casey, Graham and Gonda, Thomas J. (1999). Molecular cloning and chromosomal mapping of the human homologue of MYB binding protein (P160) 1A (MYBBP1A) to 17p13.3. Genomics, 62 (3), 483-489. doi: 10.1006/geno.1999.6035
Whitmore, Scott A., Settasatian, Chatri, Crawford, Joanna, Lower, Karen M., McCallum, Brett, Seshadri, Ram, Cornelisse, Cees J., Moerland, Elna W., Cleton-Jansen, Anne-Marie, Tipping, Alex J., Mathew, Christopher G., Savnio, Maria, Savoia, Anna, Verlander, Peter, Auerbach, Arleen D., Van Berkel, Carola, Pronk, Jan C., Doggett, Norman A. and Callen, David F. (1998). Characterization and screening for mutations of the growth arrest-specific 11 (GAS11) and C16orf3 genes at 16q24.3 in breast cancer. Genomics, 52 (3), 325-331. doi: 10.1006/geno.1998.5457
Cavanaugh, J. A., Callen, D. F., Wilson, S. R., Stanford, P. M., Sraml, M. E., Gorska, M., Crawford, J., Whitmore, S. A., Shlegel, C., Foote, S., Kohonen-Corish, A. D. and Pavli, P. (1998). Analysis of Australian Crohn's disease pedigrees refines the localization for susceptibility to inflammatory bowel disease on chromosome 16. Annals of Human Genetics, 62 (4), 291-298. doi: 10.1046/j.1469-1809.1998.6240291.x
Whitmore, Scott A., Crawford, Joanna, Apostolou, Sinoula, Eyre, Helen, Baker, Elizabeth, Lower, Karen M., Settasatian, Chatri, Goldup, Sandra, Seshadri, Ram, Gibson, Rachel A., Mathew, Christopher G., Cleton-Jansen, Anne-Marie, Savoia, Anna, Pronk, Jan C., Auerbach, Arleen D., Doggett, Norman A., Sutherland, Grant R. and Callen, David F. (1998). Construction of a high-resolution physical and transcription map of chromosome 16q24.3: a region of frequent loss of heterozygosity in sporadic breast cancer. Genomics, 50 (1), 1-8. doi: 10.1006/geno.1998.5316
Kremmidiotis, Gabriel, Baker, Elizabeth, Crawford, Joanna, Eyre, Helen J., Nahmias, Joseph and Callen, David F. (1998). Localization of human cadherin genes to chromosome regions exhibiting cancer-related loss of heterozygosity. Genomics, 49 (3), 467-471. doi: 10.1006/geno.1998.5281
Jenkins, Nancy A., Woollatt, Erica, Crawford, Joanna, Gilbert, Debra J., Baldwin, Megan E., Sutherland, Grant R., Copeland, Neal G. and Achen, Marc G. (1997). Mapping of the gene for vascular endothelial growth factor-D in mouse and man to the X chromosome. Chromosome Research, 5 (7), 502-505.
Apostolou, Sinoula, Whitmore, Scott A., Crawford, Joanna, Lennon, Gregory, Sutherland, Grant R., Callen, David F., Ianzano, Leonarda, Savino, Maria, D'Apolito, Maria, Notarangelo, Angelo, Memeo, Elena, Piemontese, Maria Rosaria, Zelante, Leopoldo, Savoia, Anna, Gibson, Rachel A., Tipping, Alex J., Morgan, Neil V., Hassock, Sheila, Jansen, Stander, deRavel, Thomy J., Van Berkel, Carola, Pronk, Jan C., Easton, Douglas F., Mathew, Christopher G., Levran, Orna, Verlander, Peter C., Batish, Sat Dev, Erlich, Tamar, Auerbach, Arleen D ... Moyzis, Robert K. (1996). Positional cloning of the Fanconi anaemia group A gene. Nature Genetics, 14 (3), 324-328. doi: 10.1038/ng1196-324
Richards, R. I., Crawford, J., Narahara, K., Mangelsdorf, M., Friend, K., Staples, A., Denton, M., Easteal, S., Hori, T. A., Kondo, I., Jenkins, T., Goldman, A., Panich, V., Ferakova, E. and Sutherland, G. R. (1996). Dynamic mutation loci: Allele distributions in different populations. Annals of Human Genetics, 60 (5), 391-400. doi: 10.1111/j.1469-1809.1996.tb00437.x
Crawford, Joanna , Labrinidis, Agatha , Carey, William F. , Nelson, Paul V. , Harvey, John S. and Morris, C. Phillip (1995). A splicing mutation (1898 + 1G→T) in the CFTR gene causing cystic fibrosis. Human Mutation, 5 (1), 101-102. doi: 10.1002/humu.1380050115
Conference Papers
Vo, Tuan, Balderson, Brad, Jones, Kahli, Crawford, Joanna, Millar, Amanda, Tolson, Elissa, Ruitenberg, Marc, Robertson, Thomas, Bhuva, Dharmesh, Davis, Melissa, Wainwright, Brandon, Nguyen, Quan and Genovesi, Laura (2022). MEDB-06. Spatial transcriptomic analysis of Sonic Hedgehog Medulloblastoma identifies that loss of heterogeneity and induced differentiation underlies the response to CDK4/6 inhibition. International Symposium on Pediatric Neuro-Oncology, Hamburg, Germany, 12–15 June 2022. Cary, NC, United States: Oxford University Press. doi: 10.1093/neuonc/noac079.381
Raghubar, Arti M., Pham, Duy T., Tan, Xiao, Grice, Laura F., Lam, Pui Yeng, Crawford, Joanna, Andersen, Stacey, Yoon, Sohye, Holland, Samuel E., Francis, Leo, Combes, Alexander N., Kassianos, Andrew J., Healy, Helen G., Nguyen, Quan and Mallett, Andrew J. (2020). Spatial Transcriptomics (ST): Integrating Molecular Profiles with Histomorphology in Kidney Tissue Sections. Kidney Week, Online, 19-25 October 2020. Washington, DC United States: American Society of Nephrology. doi: 10.1681/asn.20203110s112b
Helman, Guy, Sharma, Suvasini, Crawford, Joanna, Patra, Bijoy, Jain, Puneet, Bent, Stephen, Urtizberea, J. Andoni, Saran, R. K., Taft, Ryan, Van Der Knaap, Marjo and Simons, Cas (2019). Expanded Phenotype of GFPT1-related Disorder is a Mimicker of Mitochondrial Leukoencephalopathy. AAN 71st Annual Meeting, Philadelphia, PA United States, 4-10 May 2019. Philadelphia, PA United States: Wolters Kluwer. doi: 10.1212/wnl.92.15_supplement.p4.6-049
Mallett, A. J., Patel, C., Crawford, J., Hale, L., Ho, G., Holman, K., Bennetts, B., Little, M., Smyth, I. and Simons, C. (2018). Rapid translation of novel nephrogenetic aetiologies from first report to accredited diagnostic outcome. 54th Annual Scientific Meeting of the Australian and New Zealand Society of Nephrology (ANZSN), Sydney, Australia, 8-12 September 2018. Richmond, VIC Australia: Wiley-Blackwell Publishing Asia.
Hudson, R., Patel, C., Hawley, C., O'Shea, S., Snelling, P., Crawford, J., Simons, C. and Mallett, A. J. (2018). Adult-diagnosed non-syndromic nephronophthesis in Australian families caused by biallelic NPHP4 variants. 54th Annual Scientific Meeting of the Australian and New Zealand Society of Nephrology (ANZSN), Sydney, Australia, 8-12 September 2018. Richmond, VIC 3121 Australia: Wiley-Blackwell Publishing Asia.
Cayami, Ferdy, Miyake, Noriko, Micha, Dimitra, Crawford, Joanna, Conant, Alex, Kingsbury, Zoya, Bley, Annette, Hahn, Andreas, Sival, Deborah, Kimura-Ohba, Shihoko, Superti-Furga, Andrea, Gripp, Karen W., Bulas, Dorothy, Taft, Ryan J., Ozono, Keiichi, Matsumoto, Naomichi, Neubauer, Bernd A., Simons, Cas, Vanderver, Adeline and Wolf, Nicole I. (2017). Osteogenic transdifferentiation as ideal in vivo model for inherited hypomyelination with spondylometaphyseal dysplasia (H-SMD). EPNS 2017 - 12th European Paediatric Neurology Society Congress, Lyon, France, 20-24 June 2017. London, United Kingdom: Elsevier. doi: 10.1016/j.ejpn.2017.04.988
Mallett, A., Patel, C., Crawford, J., Alexander, S., Bennetts, B., Mccarthy, H., Quinlan, C., Maier, B., Er, P., Takasato, M., Healy, H., Smyth, I, Little, M. and Simons, C. (2016). Massively Parallel Sequencing (Mps) and Functional Genomics Can Achieve Genetic Diagnosis in Unresolved Cases of Genetic Renal Disease (Grd). The 15th Asian Pacific Congress of Nephrology (APCN) and 52nd ANZSN ASM, Perth, Western Australia, 17–21 September 2016. Richmond, VIC, Australia: Wiley-Blackwell Publishing Asia.
Vanderver, A., Miyake, N., Cayami, F., Crawford, J., Conan, A., Ulrick, N., Humphrey, S., Rival, D., Stolte-Dijkstra, I, Sinke, R., Rodenburg, R., Kimura, Ohba S., Superti-Furga, A., Gripp, K., Bulas, D., Bent, S., Pizzino, A., Taft, R., Ozono, K., Matsumoto, N., Neubauer, B., Simons, C. and Wolf, N. (2016). X-linked Hypomyelination with Spondylometaphyseal Dysplasia (H-SMD). 141st Annual Meeting of the American-Neurological-Association, Baltimore, United States, Oct 16-18, 2016. Hoboken, NJ, United States: John Wiley & Sons.
Mallett, A., Hoer, S., John, G., Burke, J., Patel, C., Crawford, J., Hyland, V., Healy, H., Little, M., Simons, C., Connor, T. and Maxwell, P. (2015). The T616C Trna(Phe) mutation causes mitochondrially inherited tubulointerstitial kidney disease. 51st Annual Scientific Meeting of the Australian and New Zealand Society of Nephrology, Canberra, Australia, 7-9 September 2015. Richmond, Australia: Wiley-Blackwell Publishing Asia. doi: 10.1111/nep.12543
Cossetti, Chiara, Mercer, Tim R., Alpi, Emanuele, Leonardi, Tommaso, Drago, Denise, Iraci, Nunzio, Alfaro-Cervello, Clara, Dinger, Marcel E., Dietmann, Sabine, Crawford, Joanna, Caddeo, Carla, Garcia Verdugo, Manuel, Bachi, Angela, Mattick, John S. and Pluchino, Stefano (2012). Neural stem cells sort protein and RNA cargoes for export with exosomes in response to inflammation. 11th International Congress of Neuroimmunology (ISNI), Boston MA., United States, 4-8 November 2012. Amsterdam, The Netherlands: Elsevier.
Khaitan, D., Dinger, M. E., Mazar, J., Crawford, J., Smith, M. A., Mattick, J. S. and Perera, R. J. (2011). The melanoma-upregulated long noncoding RNA SPRY4-IN1 modulates apoptosis and invasion. 36th FEBS Congress, Biochemistry for Tomorrows Medicine, Torino, Italy, 25-30 June 2010. Oxford, United Kingdom: Wiley-Blackwell Publishing. doi: 10.1111/j.1742-4658.2011.08137.x