Publications
Book Chapter
Stutterd, C. A., Lake, N. J., Peters, H., Lockhart, P. J., Taft, R. J., van der Knaap, M. S., Vanderver, A., Thorburn, D. R., Simons, C. and Leventer, R. J. (2019).Severe Leukoencephalopathy with Clinical Recovery Caused by Recessive BOLA3 Mutations. JIMD Reports. (pp. 63-70) edited by Eva Morava, Matthias Baumgartner, Marc Patterson, Shamima Rahman, Johannes Zschocke and Verena Peters.Berlin, Germany: Springer. doi:10.1007/8904_2018_100
Journal Articles
Rondon‐Galeano, Maria, Skoczylas, Renae, Bower, Neil I., Simons, Cas, Gordon, Emma, Francois, Mathias, Koltowska, Katarzyna and Hogan, Benjamin M. (2020) MAFB modulates the maturation of lymphatic vascular networks in mice. Developmental Dynamics, . doi:10.1002/dvdy.209
Jones, Lynelle K., Lam, Rachel, McKee, Karen K., Aleksandrova, Maya, Dowling, John, Alexander, Stephen I., Mallawaarachchi, Amali, Cottle, Denny L., Short, Kieran M., Pais, Lynn, Miner, Jeffery H., Mallett, Andrew J., Simons, Cas, McCarthy, Hugh, Yurchenco, Peter D. and Smyth, Ian M. (2020). A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder. Development, 147 (21) doi:10.1242/dev.189183
Dutta, Debdeep, Briere, Lauren C., Kanca, Oguz, Marcogliese, Paul C., Walker, Melissa A., High, Frances A., Vanderver, Adeline, Krier, Joel, Carmichael, Nikkola, Callahan, Christine, Taft, Ryan J., Simons, Cas, Helman, Guy, Undiagnosed Diseases Netwrok, Wangler, Michael F., Yamamoto, Shinya, Sweetser, David A. and Bellen, Hugo J. (2020). De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment. Human Molecular Genetics, 29 (9) 1568-1579. doi:10.1093/hmg/ddaa081
Vanderver, Adeline, Bernard, Genevieve, Helman, Guy, Sherbini, Omar, Boeck, Ryan, Cohn, Jeffrey, Collins, Abigail, Demarest, Scott, Dobbins, Katherine, Emrick, Lisa, Fraser, Jamie, Masser‐Frye, Diane, Hayward, Jean, Karmarkar, Swati, Keller, Stephanie, Mirrop, Samuel, Mitchell, Wendy, Pathak, Sheel, Sherr, Elliott, van Haren, Keith, Waters, Erica, Wilson, Jenny L., Zhorne, Leah, Schiffmann, Raphael, van der Knaap, Marjo S., Pizzino, Amy, Dubbs, Holly, Shults, Justine, Simons, Cas, Taft, Ryan J. and Cross, Zachary (2020). Randomized clinical trial of first‐line genome sequencing in pediatric white matter disorders. Annals of Neurologyana.25757, doi:10.1002/ana.25757
Helman, Guy, Takanohashi, Asako, Hagemann, Tracy L., Perng, Ming D., Walkiewicz, Marzena, Woidill, Sarah, Sase, Sunetra, Cross, Zachary, Du, Yangzhu, Zhao, Ling, Waldman, Amy, Haake, Bret C., Fatemi, Ali, Brenner, Michael, Sherbini, Omar, Messing, Albee, Vanderver, Adeline and Simons, Cas (2020). Type II Alexander disease caused by splicing errors and aberrant overexpression of an uncharacterized GFAP isoform. Human Mutation, 41 (6) humu.24008, 1131-1137. doi:10.1002/humu.24008
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
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 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, Baker, Eva and Balasubramanyam, Ashok (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
Jayasinghe, Kushani, White, Susan M., Kerr, Peter G., MacGregor, Duncan, Stark, Zornitza, Wilkins, Ella, Simons, Cas, Mallett, Andrew and Quinlan, Catherine (2019). Isolated proteinuria due to CUBN homozygous mutation - challenging the investigative paradigm. BMC Nephrology, 20 (1) 330, doi:10.1186/s12882-019-1474-z
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., Baker, Eva and Balasubramanyam, A. (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
Guo, Long, Bertola, Débora Romeo, Takanohashi, Asako, Saito, Asuka, Segawa, Yuko, Yokota, Takanori, Ishibashi, Satoru, Nishida, Yoichiro, Yamamoto, Guilherme Lopes, Franco, José Francisco da Silva, Honjo, Rachel Sayuri, Kim, Chong Ae, Musso, Camila Manso, Timmons, Margaret, Pizzino, Amy, Taft, Ryan J., Lajoie, Bryan, Knight, Melanie A., Fischbeck, Kenneth H., Singleton, Andrew B., Ferreira, Carlos R., Wang, Zheng, Yan, Li, Garbern, James Y., Simsek-Kiper, Pelin O., Ohashi, Hirofumi, Robey, Pamela G., Boyde, Alan, Matsumoto, Naomichi, Miyake, Noriko and Spranger, Jürgen (2019). Bi-allelic CSF1R mutations cause skeletal dysplasia of dysosteosclerosis-pyle disease spectrum and degenerative encephalopathy with brain malformation. American Journal of Human Genetics, 104 (5) 925-935. doi:10.1016/j.ajhg.2019.03.004
Lenk, Guy M., Berry, Ian R., Stutterd, Chloe A., Blyth, Moira, Green, Lydia, Vadlamani, Gayatri, Warren, Daniel, Craven, Ian, Fanjul-Fernandez, Miriam, Rodriguez-Casero, Victoria, Lockhart, Paul J., Vanderver, Adeline, Simons, Cas, Gibb, Susan, Sadedin, Simon, White, Susan M., Christodoulou, John, Skibina, Olga, Ruddle, Jonathan, Tan, Tiong Y., Leventer, Richard J., Livingston, John H. and Meisler, Miriam H. (2019). Cerebral hypomyelination associated with biallelic variants of FIG4. Human Mutation, 40 (5) 619-630. doi:10.1002/humu.23720
Baek, Sungmin, Oh, Tae Gyu, Secker, Genevieve, Sutton, Drew L., Okuda, Kazuhide S., Paterson, Scott, Bower, Neil I., Toubia, John, Koltowska, Katarzyna, Capon, Samuel J., Baillie, Gregory J., Simons, Cas, Muscat, George E.O., Lagendijk, Anne K., Smith, Kelly A., Harvey, Natasha L. and Hogan, Benjamin M. (2019). The alternative splicing regulator Nova2 constrains vascular Erk signaling to limit specification of the lymphatic lineage. Developmental Cell, 49 (2) 279-292. doi:10.1016/j.devcel.2019.03.017
Grassini, Daniela R., Da Silva, Jason, Hall, Thomas E., Baillie, Gregory J., Simons, Cas, Parton, Robert G., Hogan, Benjamin M. and Smith, Kelly A. (2019). Myosin Vb is required for correct trafficking of N-cadherin and cardiac chamber ballooning. Developmental Dynamics, 248 (4) dvdy.19, 284-295. doi:10.1002/dvdy.19
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
Backhouse, Brendan, Hanna, Chloe, Robevska, Gorjana, van den Bergen, Jocelyn, Pelosi, Emanuele, Simons, Cas, Koopman, Peter, Juniarto, A. Zulfa, Grover, Sonia, Faradz, Sultana, Sinclair, Andrew, Ayers, Katie and Tan, Tiong Y. (2018). Identification of candidate genes for Mayer-Rokitansky-Küster-Hauser syndrome using genomic approaches. Sexual Development, 13 (1) 26-34. doi:10.1159/000494896
Ito, Yoko, Hartley, Taila, Baird, Stephen, Venkateswaran, Sunita, Simons, Cas, Wolf, Nicole I., Boycott, Kym M., Dyment, David A. and Kernohan, Kristin D. (2018). Lysosomal dysfunction in TMEM106B hypomyelinating leukodystrophy. Neurology-Genetics, 4 (6) e288, doi:10.1212/NXG.0000000000000288
McMillan, Hugh J., Telegrafi, Aida, Singleton, Amanda, Cho, Megan T., Lelli, Daniel, Lynn, Francis C., Griffin, Julie, Asamoah, Alexander, Rinne, Tuula, Erasmus, Corrie E., Koolen, David A., Haaxma, Charlotte A., Keren, Boris, Doummar, Diane, Mignot, Cyril, Thompson, Islay, Velsher, Lea, Dehghani, Mohammadreza, Vahidi Mehrjardi, Mohammad Yahya, Maroofian, Reza, Tchan, Michel, Simons, Cas, Christodoulou, John, Martín-Hernández, Elena, Guillen Sacoto, Maria J., Henderson, Lindsay B., McLaughlin, Heather, Molday, Laurie L., Molday, Robert S. and Yoon, Grace (2018). Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy. Orphanet Journal of Rare Diseases, 13 (1) 86, doi:10.1186/s13023-018-0825-3
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
Pizzino, Amy, Whitehead, Matthew, Sabet Rasekh, Parisa, Murphy, Jennifer, Helman, Guy, Bloom, Miriam, Evans, Sarah H, Murnick, John G, Conry, Joan, Taft, Ryan J, Simons, Cas, Vanderver, Adeline and Adang, Laura A (2018). Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy. American Journal of Medical Genetics. Part A, 176 (6) 1443-1448. doi:10.1002/ajmg.a.38717
Frohlich, Dominik, Suchowerska, Alexandra K., Voss, Carola, He, Ruojie, Wolvetang, Ernst, von Jonquieres, Georg, Simon, Cas, Fath, Thomas, Housley, Gary D. and Klugmann, Matthias (2018). Expression pattern of the aspartyl-tRNA synthetase DARS in the human brain. Frontiers in Molecular Neuroscience, 1181, doi:10.3389/fnmol.2018.00081
Simons, Cas, Dyment, David, van der Knaap, Marjo S and Wolf, Nicole I (2018). Reply: The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot. Brain, 141 (5) e37-e37. doi:10.1093/brain/awy030
Perrier, S., Gauquelin, L., Tétreault, M., Tran, L. T., Webb, N., Srour, M., Mitchell, J. J., Brunel-Guitton, C., Majewski, J., Long, V., Keller, S., Gambello, M. J., Simons, C., Care4Rare Canada Consortium, Vanderver, A. and Bernard, G. (2018). Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy. Clinical Genetics, 93 (2) 396-400. doi:10.1111/cge.13126
Conant, Alexander, Curiel, Julian, Pizzino, Amy, Sabetrasekh, Parisa, Murphy, Jennifer, Bloom, Miriam, Evans, Sarah H., Helman, Guy, Taft, Ryan J., Simons, Cas, Whitehead, Matthew T., Moore, Steven A. and Vanderver, Adeline (2018). Absence of axoglial paranodal junctions in a child with CNTNAP1 mutations, hypomyelination, and arthrogryposis. Journal of Child Neurology, 33 (10) 883073818776157-650. doi:10.1177/0883073818776157
Mendes, Marisa I., Gutierrez Salazar, Mariana, Guerrero, Kether, Thiffault, Isabelle, Salomons, Gajja S., Gauquelin, Laurence, Tran, Luan T., Forget, Diane, Gauthier, Marie-Soleil, Waisfisz, Quinten, Smith, Desiree E.C., Simons, Cas, van der Knaap, Marjo S., Marquardt, Iris, Lemes, Aida, Mierzewska, Hanna, Weschke, Bernhard, Koehler, Wolfgang, Coulombe, Benoit, Wolf, Nicole I. and Bernard, Geneviève (2018). Bi-allelic mutations in EPRS, encoding the glutamyl-prolyl-aminoacyl-tRNA synthetase, cause a hypomyelinating leukodystrophy. American Journal of Human Genetics, 102 (4) 676-684. doi:10.1016/j.ajhg.2018.02.011
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
Curiel, Julian, Rodríguez Bey, Guillermo, Takanohashi, Asako, Bugiani, Marianna, Fu, Xiaoqin, Wolf, Nicole I., Nmezi, Bruce, Schiffmann, Raphael, Bugaighis, Mona, Pierson, Tyler, Helman, Guy, Simons, Cas, van der Knaap, Marjo S., Liu, Judy, Padiath, Quasar and Vanderver, Adeline (2017). TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes. Human Molecular Genetics, 26 (22) 4506-4518. doi:10.1093/hmg/ddx338
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
Dorboz, Imen, Aiello, Chiara, Simons, Cas, Stone, Robert Thompson, Niceta, Marcello, Elmaleh, Monique, Abuawad, Mohammad, Doummar, Diane, Bruselles, Alessandro, Wolf, Nicole I., Travaglini, Lorena, Boespflug-Tanguy, Odile, Tartaglia, Marco, Vanderver, Adeline, Rodriguez, Diana and Bertini, Enrico (2017). Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy. Brain : A Journal of Neurology, 140 (10) 2550-2556. doi:10.1093/brain/awx207
Nafisinia, Michael, Riley, Lisa G., Gold, Wendy A., Bhattacharya, Kaustuv, Broderick, Carolyn R., Thorburn, David R., Simons, Cas and Christodoulou, John (2017). Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction. Plos One, 12 (6) e0178125, doi:10.1371/journal.pone.0178125
Bower, Neil I., Koltowska, Katarzyna, Pichol-Thievend, Cathy, Virshup, Isaac, Paterson, Scott, Lagendijk, Anne K., Wang, Weili, Lindsey, Benjamin W., Bent, Stephen J., Baek, Sungmin, Rondon-Galeano, Maria, Hurley, Daniel G., Mochizuki, Naoki, Simons, Cas, Francois, Mathias, Wells, Christine A., Kaslin, Jan and Hogan, Benjamin M. (2017). Mural lymphatic endothelial cells regulate meningeal angiogenesis in the zebrafish. Nature Neuroscience, 20 (6) 774-783. doi:10.1038/nn.4558
De Angelis, Jessica E., Lagendijk, Anne K., Chen, Huijun, Tromp, Alisha, Bower, Neil I., Tunny, Kathryn A., Brooks, Andrew J., Bakkers, Jeroen, Francois, Mathias, Yap, Alpha S., Simons, Cas, Wicking, Carol, Hogan, Benjamin M. and Smith, Kelly A. (2017). Correction to: Tmem2 regulates embryonic Vegf signaling by controlling hyaluronic acid turnover (Developmental Cell 40, 2017, 123-136). Developmental Cell, 40 (4) 421-421. doi:10.1016/j.devcel.2017.02.005
De Angelis, Jessica E., Lagendijk, Anne K., Chen, Huijun, Tromp, Alisha, Bower, Neil I., Tunny, Kathryn A., Brooks, Andrew J., Bakkers, Jeroen, Francois, Mathias, Yap, Alpha S., Simons, Cas, Wicking, Carol, Hogan, Benjamin M. and Smith, Kelly A. (2017). Tmem2 regulates embryonic Vegf signaling by controlling hyaluronic acid turnover. Developmental Cell, 40 (2) 123-136. doi:10.1016/j.devcel.2016.12.017
Capon, Samuel James, Baillie, Gregory, Bower, Neil, Da Silva, Jason Andrew, Paterson, Scott, Hogan, Ben, Simons, Cas and Smith, Kelly (2017). Utilising polymorphisms to achieve allele-specific genome editiing in zebrafish. Biology Open, 6 (1) 125-131. doi:10.1242/bio.020974
Ulrick, Nicole, Goldstein, Amy, Simons, Cas, Taft, Ryan J., Helman, Guy, Pizzino, Amy, Bloom, Miriam, Vogt, Julie, Pysden, Karen, Diodato, Daria, Martinelli, Diego, Monavari, Ahmad, Buhas, Daniela, van Karnebeek, Clara D. M., Dorboz, Imen, Boespflug-Tanguy, Odile, Rodriguez, Diana, Tetreault, Martine, Majewski, Jacek, Bernard, Genevieve, Ng, Yi Shiau, McFarland, Robert and Vanderver, Adeline (2017). RMND1-related leukoencephalopathy with temporal lobe cysts and hearing loss—another mendelian mimicker of congenital cytomegalovirus infection. Pediatric Neurology, 6659-62. doi:10.1016/j.pediatrneurol.2016.09.003
Ng, Yi Shiau, Alston, Charlotte L., Diodato, Daria, Morris, Andrew A., Ulrick, Nicole, Kmoch, Stanislav, Houstek, Josef, Martinelli, Diego, Haghighi, Alireza, Atiq, Mehnaz, Gamero, Montserrat Anton, Garcia-Martinez, Elena, Kratochvilova, Hana, Santra, Saikat, Brown, Ruth M., Brown, Garry K., Ragge, Nicola, Monavari, Ahmad, Pysden, Karen, Ravn, Kirstine, Casey, Jillian P., Khan, Arif, Chakrapani, Anupam, Vassallo, Grace, Simons, Cas, McKeever, Karl, O'Sullivan, Siobhan, Childs, Anne-Marie, Ostergaard, Elsebet, Vanderver, Adeline and Goldstein, Amy (2016). The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. Journal of Medical Genetics, 53 (11) 768-775. doi:10.1136/jmedgenet-2016-103910
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
Mallett, Andrew, Patel, Chirag, Maier, Barbara, McGaughran, Julie, Gabbett, Michael, Takasato, Minoru, Cameron, Anne, Trnka, Peter, Alexander, Stephen I., Rangan, Gopala, Tchan, Michel C., Caruana, Georgina, John, George, Quinlan, Cathy, McCarthy, Hugh J., Hyland, Valentine, Hoy, Wedy E., Wolvetang, Ernst, Taft, Ryan, Simons, Cas, Healy H. and Little, Melissa (2015). A protocol for the identification and validation of novel genetic causes of kidney disease. BMC Nephrology, 16 (152) 148, doi:10.1186/s12882-015-0148-8
Koltowska, Katarzyna, Paterson, Scott, Bower, Neil I., Baillie, Gregory J., Lagendijk, Anne K., Astin, Jonathan W., Chen, Huijun, Francois, Mathias, Crosier, Philip S., Taft, Ryan J., Simons, Cas, Smith, Kelly A. and Hogan, Benjamin M. (2015). mafba is a downstream transcriptional effector of Vegfc signaling essential for embryonic lymphangiogenesis in zebrafish. Genes and Development, 29 (15) 1618-1630. doi:10.1101/gad.263210.115
Thiffault, Isabelle, Wolf, Nicole I., Forget, Diane, Guerrero, Kether, Tran, Luan T., Choquet, Karine, Lavallee-Adam, Mathieu, Poitras, Christian, Brais, Bernard, Yoon, Grace, Sztriha, Laszlo, Webster, Richard I., Timmann, Dagmar, van de Warrenburg, Bart P., Seeger, Jurgen, Zimmermann, Aliz, Mate, Adrienn, Goizet, Cyril, Fung, Eva, van der Knaap, Marjo S., Fribourg, Sebastien, Vanderver, Adeline, Simons, Cas, Taft, Ryan J., Yates III, John R., Coulombe, Benoit and Bernard, Genevieve (2015). Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. Nature Communications, 6 (7623) 7623, 1-9. doi:10.1038/ncomms8623
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
Parikh, Sumit, Bernard, Geneviève, Leventer, Richard J., van der Knaap, Marjo S., van Hove, Johan, Pizzino, Amy, McNeill, Nathan H., Helman, Guy, Simons, Cas, Schmidt, Johanna L., Rizzo, William B., Patterson, Marc C., Taft, Ryan J., Vanderver, Adeline and on behalf of the GLIA Consortium (2015). A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies. Molecular Genetics and Metabolism, 114 (4) 501-515. doi:10.1016/j.ymgme.2014.12.434
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
Wolf, Nicole I., Toro, Camilo, Kister, Ilya, Abd Latif, Kartikasalwah, Leventer, Richard, Pizzino, Amy, Simons, Cas, Abbink, Truus E. M., Taft, Ryan J., van der Knaap, Marjo S. and Vanderver, Adeline (2015). DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder. Neurology, 84 (3) 226-230. doi:10.1212/WNL.0000000000001157
Helman, Guy, Caldovic, Ljubica, Whitehead, Matthew T., Simons, Cas, Brockmann, Knut, Edvardson, Simon, Bai, Renkui, Moroni, Isabella, Taylor, J. Michael, Van Haren, Keith, The SDH Study Group, Taft, Ryan, Vanderver, Adeline and van der Knaap, Marjo S. (2015). MRI spectrum of Succinate Dehydrogenase-related infantile leukoencephalopathy. Annals of Neurology, 79 (3) 379-386. doi:10.1002/ana.24572
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
Hunt, David, Leventer, Richard J., Simons, Cas, Taft, Ryan, Swodboda, Kathryn J., Gwan-Cain, Mary, The DDD study, Magee, Alex C., Turnpenny, Peter D. and Baralle, Diana (2014). Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability. Journal of Medical Genetics, 51 (12) 806-813. doi:10.1136/jmedgenet-2014-102798
Pizzino, Amy, Pierson, Tyler Mark, Guo, Yiran, Helman, Guy, Fortini, Sebastian, Guerrero, Kether, Saitta, Sulagna, Murphy, Jennifer Louise Patrick, Padiath, Quasar, Xie, Yi, Hakonarson, Hakon, Xu, Xun, Funari, Tara, Fox, Michelle, Taft, Ryan J., van der Knaap, Marjo S., Bernard, Genevieve, Schiffmann, Raphael, Simons, Cas and Vanderver, Adeline (2014). TUBB4A de novo mutations cause isolated hypomyelination. Neurology, 83 (10) 898-902. doi:10.1212/WNL.0000000000000754
Miller, David K, Menezes, Minal J., Simons, Cas, Riley, Lisa G., Cooper, Sandra T., Grimmond, Sean M., Thorburn, David R., Christodoulou, John and Taft, Ryan J. (2014). Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient. PLoS One, 9 (8) e104879, e104879.1-e104879.6. doi:10.1371/journal.pone.0104879
Prokudin, Ivan, Simons, Cas, Grigg, John R., Storen, Rebecca, Kumar, Vikrant, Phua, Zai Y., Smith, James, Flaherty, Maree, Davila, Sonia and Jamieson, Robyn V. (2014). Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. European Journal of Human Genetics, 22 (7) 907-915. doi:10.1038/ejhg.2013.268
Hamilton, Eline M., Polder, Emiel, Vanderver, Adeline, Naidu, Sakkubai, Schiffmann, Raphael, Fisher, Kate, Raguz, Ana Boban, Blumkin, Luba, H-ABC Research Group, van Berkel, Carola G. M., Waisfisz, Quinten, Simons, Cas, Taft, Ryan J., Abbink, Truus E. M., Wolf, Nicole I. and van der Knapp, Marjo S. (2014). Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. Brain, 137 (7) 1921-1930. doi:10.1093/brain/awu110
Vanderver, Adeline, Simons, Cas, Schmidt, Johanna L., Pearl, Philip L., Bloom, Miriam, Lavenstein, Bennett, Miller, David, Grimmond, Sean M. and Taft, Ryan J. (2013). Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy. Pediatric Neurology, In Press, Corrected Proof (1) 1-3. doi:10.1016/j.pediatrneurol.2013.06.024
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
Mercer, Tim R., Wilhelm, Dagmar, Dinger, Marcel E., Solda, Giulia, Korbie, Darren J., Glazov, Evgeny A., Truong, Vy, Schwenke, Maren, Simons, Cas, Matthaei, Klaus I., Saint, Robert, Koopman, Peter and Mattick, John S. (2011). Expression of distinct RNAs from 3′ untranslated regions. Nucleic Acids Research, 39 (6) 2393-2403. doi:10.1093/nar/gkq1158
Taft, Ryan, Simons, Cas, Nahkuri, Satu, Oey, Harald, Korbie, Darren J., Mercer, Timothy R., Holst, Jeff, Ritchie, William, Wong, Justin J-L., Rasko, John E. J., Rokhsar, Daniel S., Degnan, Bernard M. and Mattick, John S. (2010). Nuclear-localized tiny RNAs are associated with transcription initiation and splice sites in metazoans. Nature Structural and Molecular Biology, 17 (8) 1030-1035. doi:10.1038/nsmb.1841
Taft, R. J., Kaplan, C. D., Simons, C and Mattick, J. S. (2009). Evolution, biogenesis and function of promoter-associated RNAs. Cell Cycle, 8 (15) 2332-2338. doi:10.4161/cc.8.15.9154
Taft, Ryan J., Glazov, Evgeny A., Cloonan, Nicole, Simons, Cas, Stephen, Stuart, Faulkner, Geoffrey J., Lassmann, Timo, Forrest, Alistair R. R., Grimmond, Sean M., Schroder, Kate, Irvine, Katharine, Arakawa, Takahiro, Nakamura, Mari, Kubosaki, Atsutaka, Hayashida, Kengo, Kawazu, Chika, Murata, Mitsuyoshi, Nishiyori, Hiromi, Fukuda, Shiro, Kawai, Jun, Daub, Carsten O., Hume, David A., Suzuki, Harukazu, Orlando, Valerio, Carninci, Piero, Hayashizaki, Yoshihide and Mattick, John S. (2009). Corrigendum: Tiny RNAs associated with transcription start sites in animals (vol 41, pg 572, 2009). Nature Genetics, 41 (7) 859-859. doi:10.1038/ng0709-859a
Suzuki, H, Forrest, ARR, van Nimwegen, E, Daub, CO, Balwierz, PJ, Irvine, KM, Lassmann, T, Ravasi, T, Hasegawa, Y, de Hoon, MJL, Katayama, S, Schroder, K, Carninci, P, Tomaru, Y, Kanamori-Katayama, M, Kubosaki, A, Akalin, A, Ando, Y, Arner, E, Asada, M, Asahara, H, Bailey, T, Bajic, VB, Bauer, D, Beckhouse, AG, Bertin, N, Bjorkegren, J, Brombacher, F, Bulger, E, Chalk, AM and Chiba, J (2009). The transcriptional network that controls growth arrest and differentiation in a human myeloid leukemia cell line. Nature Genetics, 41 (5) 553-562. doi:10.1038/ng.375
Taft, RJ, Glazov, EA, Cloonan, N, Simons, C, Stephen, S, Faulkner, GJ, Lassmann, T, Forrest, ARR, Grimmond, SM, Schroder, K, Irvine, K, Arakawa, T, Nakamura, M, Kubosaki, A, Hayashida, K, Kawazu, C, Murata, M, Nishiyori, H, Fukuda, S, Kawai, J, Daub, CO, Hume, DA, Suzuki, H, Orlando, V, Carninci, P, Hayashizaki, Y and Mattick, JS (2009). Tiny RNAs associated with transcription start sites in animals. Nature Genetics, 41 (5) 572-578. doi:10.1038/ng.312
Dinger, Marcel E., Amaral, Paulo P., Mercer, Tim R, Pang, Ken C., Bruce, Stephen J., Gardiner, Brooke B., Askarian-Amiri, Marjan E., Ru, Kelin, Solda, Giulia, Simons, Cas, Sunkin, Susan M., Crowe, Mark L., Grimmond, Sean M, Perkins, Andrew C. and Mattick, John S. (2008). Long Noncoding RNAs in mouse embryonic stem cell pluripotency and differentiation. Genome Research, 18 (9) 1433-1445. doi:10.1101/gr.078378.108
Makunin, Igor, Pheasant, Michael, Simons, Cas and Mattick, John S. (2007). Orthologous MicroRNA genes are located in cancer-associated genomic regions in human and mouse. PLoS One, 2 (11) e1133, doi:10.1371/journal.pone.0001133
Simons, Cas, Makunin, Igor V., Pheasant, Michael and Mattick, John S. (2007). Maintenance of transposon-free regions throughout vertebrate evolution. BMC Genomics, 8470, 470-479. doi:10.1186/1471-2164-8-470
Chung, Betty Y. W., Simons, Cas, Firth, Andrew E., Brown, Chris M. and Hellens, Roger P. (2006). Effect of 5′UTR introns on gene expression in Arabidopsis thaliana. BMC Genomics, 7 (1) 120, doi:10.1186/1471-2164-7-120
Tebbutt, SJ and Simons, C (2002). Gene sequences from New Zealand's extinct huia. Journal of the Royal Society of New Zealand, 32 (2) 327-335. doi:10.1080/03014223.2002.9517697
Conference Papers
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.
Perrier, S., Gauquelin, L., Tetreault, M., Tran, L., Webb, N., Srour, M., Mitchell, J., Brunel-Guitton, C., Majewski, J., Long, V, Keller, S., Gambello, M., Simons, C., Vanderver, A. and Bernard, G. (2017).Recessive Mutations in NDUFA2 Cause Mitochondrial Leukoencephalopathy. 46th Annual Meeting of the Child-Neurology-Society (CNS), Kansas City Mo, Oct 04-07, 2017. HOBOKEN :WILEY.
Koltowska, Kaska, Paterson, Scott, Lagendijk, Anne Karine, Chen, Huijun, Baillie, Gregory, Leshchiner, Ignat, Geossling, Wolfram, Smith, Kelly, Simons, Cas, Schulte-Merker, Stefan and Hogan, Ben (2017).Lymphatic and facial defects 1 regulates expansion of the lymphatic endothelial cell lineage upon its emergence from the cardinal vein. 18th International Congress of Developmental Biology, Singapore, Singapore, 18 - 22 June 2017. E Park, Shannon, Clare Ireland :Elsevier Ireland. doi: 10.1016/j.mod.2017.04.447
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., Mordaunt, D., Crafter, S., Mctaggart, S., Kark, A., Patel, C., Crawford, J., Holman, K., Farnsworth, E., Ho, G., Healy, H., Alexander, S., Bennetts, B., Little, M. and Simons, C. (2015).The Heterozygous P.R76W Hnf4A Variant Is Associated with Atypical Autosomal Dominant De Toni-Fanconi-Debre Syndrome and Can Be Diagnosed Utilising Diagnostic Clinical Exomic Analysis. 51st Annual Scientific Meeting of the Australian and New Zealand Society of Nephrology, Canberra, ACT Australia, 7-9 September 2015. Richmond, VIC Australia :Wiley-Blackwell Publishing Asia. doi: 10.1111/nep.12543
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
Mallett, A., Mordaunt, D., Sonawane, R., Walker, A., Kausman, J., Peters, H., White, S., Stark, Z., Trnka, P., Patel, C., Crawford, J., Holman, K., Farnsworth, E., Ho, G., Alexander, S., Bennetts, B., Healy, H., Little, M., Simons, C. and Yaplito-Lee, J. (2015).Rmnd1 Mutations Are Associated with Autosomal Recessive Syndromic Nephropathy. 51st Annual Scientific Meeting of the Australian and New Zealand Society of Nephrology, Canberra, ACT Australia, 7-9 September 2015. Richmond, VIC Australia :Wiley-Blackwell Publishing Asia. doi: 10.1111/nep.12543
Helman, G., Simons, C., Pizzino, A., Murphy, J., Bloom, M., Evans, S., Taft, R. and Vanderver, A. (2014).Whole exome sequencing in a cohort of unsolved leukodystrophies. 43rd Annual Meeting of the Child Neurology Society, Columbus, United States, Oct 22-25, 2014. Hoboken, United States :John Wiley & Sons. doi: 10.1002/ana.24226
Pizzino, A., Murphy, J., Bloom, M., Evans, S., Helman, G., Taft, R., Simons, C. and Vanderver, A. (2014).Mutations in CNTNAP1 Cause Severe Arthrogryposis Multiplex Congenita with Distinct Neuroradiologic Features. 43rd Annual Meeting of the Child Neurology Society, Columbus, United States, Oct 22-25, 2014. Hoboken, United States :John Wiley & Sons. doi: 10.1002/ana.24226
Mattick, JS, Croft, LJ, Dinger, ME, Pheasant, M, Makunin, IV, Amiri, MA, Mercer, TR, Pang, KC, Simons, C and Taft, RJ (2007).The human genome as an RNA machine. 32nd Congress of the Federation-of-European-Biochemical-Societies (FEBS), Vienna AUSTRIA, JUL 07-12, 2007. OXFORD :BLACKWELL PUBLISHING.
Dataset Collection
Taft, Ryan and Simons, Cas (2013). Leukoseq: A Targeted Genome Sequencing Cohort Analysis of Paediatric Leukodystrophy. The University of Queensland. (Collection) doi: 10.14264/uql.2017.86
Thesis
Cas Simons (2008). Transposon free regions in vertebrate genomes. PhD Thesis, Institute for Molecular Bioscience, The University of Queensland.