Matrix metalloproteinases: Evolution, gene regulation and functional analysis in mouse models von Fanjul-Fernández, Miriam, Folgueras, Alicia R., Cabrera, Sandra, López-Otín, Carlos

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Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3 von Sim, Joe C., Scerri, Thomas, Fanjul-Fernández, Miriam, Riseley, Jessica R., Gillies, Greta, Pope, Kate, van Roozendaal, Hanna, Heng, Julian I., Mandelstam, Simone A., McGillivray, George, MacGregor, Duncan, Kannan, Lakshminarayanan, Maixner, Wirginia, Harvey, A. Simon, Amor, David J., Delatycki, Martin B., Crino, Peter B., Bahlo, Melanie, Lockhart, Paul J., Leventer, Richard J.

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Cerebral hypomyelination associated with biallelic variants of FIG4 von 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., Meisler, Miriam H.

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A family study implicates GBE1 in the etiology of autism spectrum disorder von Fanjul‐Fernández, Miriam, Brown, Natasha J., Hickey, Peter, Diakumis, Peter, Rafehi, Haloom, Bozaoglu, Kiymet, Green, Cherie C., Rattray, Audrey, Young, Savannah, Alhuzaimi, Dana, Mountford, Hayley S., Gillies, Greta, Lukic, Vesna, Vick, Tanya, Finlay, Keri, Coe, Bradley P., Eichler, Evan E., Delatycki, Martin B., Wilson, Sarah J., Bahlo, Melanie, Scheffer, Ingrid E., Lockhart, Paul J.

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Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome von Puente, Xose S., Quesada, Victor, Osorio, Fernando G., Cabanillas, Rubén, Cadiñanos, Juan, Fraile, Julia M., Ordóñez, Gonzalo R., Puente, Diana A., Gutiérrez-Fernández, Ana, Fanjul-Fernández, Miriam, Lévy, Nicolas, Freije, José M.P., López-Otín, Carlos

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Generation of seven iPSC lines from peripheral blood mononuclear cells suitable to investigate Autism Spectrum Disorder von Bozaoglu, Kiymet, Gao, Yujing, Stanley, Edouard, Fanjul-Fernández, Miriam, Brown, Natasha J., Pope, Kate, Green, Cherie C., Vlahos, Katerina, Sourris, Koula, Bahlo, Melanie, Delatycki, Martin, Scheffer, Ingrid, Lockhart, Paul J.

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Neuropathology of childhood‐onset basal ganglia degeneration caused by mutation of VAC14 von Stutterd, Chloe, Diakumis, Peter, Bahlo, Melanie, Fanjul Fernandez, Miriam, Leventer, Richard J., Delatycki, Martin, Amor, David, Chow, Chung W., Stephenson, Sarah, Meisler, Miriam H., Mclean, Catriona, Lockhart, Paul J.

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Cell–cell adhesion genes CTNNA2 and CTNNA3 are tumour suppressors frequently mutated in laryngeal carcinomas von Fanjul-Fernández, Miriam, Quesada, Víctor, Cabanillas, Rubén, Cadiñanos, Juan, Fontanil, Tania, Obaya, Álvaro, Ramsay, Andrew J., Llorente, José L., Astudillo, Aurora, Cal, Santiago, López-Otín, Carlos

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Matrix metalloproteinase Mmp-1a is dispensable for normal growth and fertility in mice and promotes lung cancer progression by modulating inflammatory responses von Fanjul-Fernández, Miriam, Folgueras, Alicia R., Fueyo, Antonio, Balbín, Milagros, Suárez, María F., Fernández-García, M. Soledad, Shapiro, Steven D., Freije, José M.P., López-Otín, Carlos

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Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review von Tan, Natalie B., Stapleton, Rachel, Stark, Zornitza, Delatycki, Martin B., Yeung, Alison, Hunter, Matthew F., Amor, David J., Brown, Natasha J., Stutterd, Chloe A., McGillivray, George, Yap, Patrick, Regan, Matthew, Chong, Belinda, Fanjul Fernandez, Miriam, Marum, Justine, Phelan, Dean, Pais, Lynn S., White, Susan M., Lunke, Sebastian, Tan, Tiong Y.

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Genetic heterogeneity of polymicrogyria: study of 123 patients using deep sequencing von Stutterd, Chloe A, Brock, Stefanie, Stouffs, Katrien, Fanjul-Fernandez, Miriam, Lockhart, Paul J, McGillivray, George, Mandelstam, Simone, Pope, Kate, Delatycki, Martin B, Jansen, Anna, Leventer, Richard J

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Matrix Metalloproteinase Mmp-1a Is Dispensable for Normal Growth and Fertility in Mice and Promotes Lung Cancer Progression by Modulating Inflammatory Responses von Fanjul-Fernández, Miriam, Folgueras, Alicia R., Fueyo, Antonio, Balbín, Milagros, Suárez, María F., Fernández-García, M. Soledad, Shapiro, Steven D., Freije, José M.P., López-Otín, Carlos

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Resistance to bleomycin-induced lung fibrosis in MMP-8 deficient mice is mediated by interleukin-10 von García-Prieto, Emilio, González-López, Adrián, Cabrera, Sandra, Astudillo, Aurora, Gutiérrez-Fernández, Ana, Fanjul-Fernandez, Miriam, Batalla-Solís, Estefanía, Puente, Xose S, Fueyo, Antonio, López-Otín, Carlos, Albaiceta, Guillermo M

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Collagenase-2 deficiency or inhibition impairs experimental autoimmune encephalomyelitis in mice von Folgueras, Alicia R., Fueyo, Antonio, García-Suárez, Olivia, Cox, Jennifer, Astudillo, Aurora, Tortorella, Paolo, Campestre, Cristina, Gutiérrez-Fernández, Ana, Fanjul-Fernández, Miriam, Pennington, Caroline J., Edwards, Dylan R., Overall, Christopher M., López-Otín, Carlos

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Matrix metalloprotease 1a deficiency suppresses tumor growth and angiogenesis von Foley, C J, Fanjul-Fernández, M, Bohm, A, Nguyen, N, Agarwal, A, Austin, K, Koukos, G, Covic, L, López-Otín, C, Kuliopulos, A

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Collagenase-2 Deficiency or Inhibition Impairs Experimental Autoimmune Encephalomyelitis in Mice von Folgueras, Alicia R., Fueyo, Antonio, García-Suárez, Olivia, Cox, Jennifer, Astudillo, Aurora, Tortorella, Paolo, Campestre, Cristina, Gutiérrez-Fernández, Ana, Fanjul-Fernández, Miriam, Pennington, Caroline J., Edwards, Dylan R., Overall, Christopher M., López-Otín, Carlos

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Meeting the challenges of implementing rapid genomic testing in acute pediatric care von Stark, Zornitza, Lunke, Sebastian, Brett, Gemma R., Tan, Natalie B., Stapleton, Rachel, Kumble, Smitha, Yeung, Alison, Phelan, Dean G., Chong, Belinda, Fanjul-Fernandez, Miriam, Marum, Justine E., Hunter, Matthew, Jarmolowicz, Anna, Prawer, Yael, Riseley, Jessica R., Regan, Matthew, Elliott, Justine, Martyn, Melissa, Best, Stephanie, Tan, Tiong Y., Gaff, Clara L., White, Susan M.

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A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis von Tan, Tiong Yang, Lunke, Sebastian, Chong, Belinda, Phelan, Dean, Fanjul-Fernandez, Miriam, Marum, Justine E, Kumar, Vanessa Siva, Stark, Zornitza, Yeung, Alison, Brown, Natasha J, Stutterd, Chloe, Delatycki, Martin B, Sadedin, Simon, Martyn, Melissa, Goranitis, Ilias, Thorne, Natalie, Gaff, Clara L, White, Susan M

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Cerebral hypomyelination associated with biallelic variants of FIG4: LENK et al von 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., Meisler, Miriam H.

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Shariant platform: Enabling evidence sharing across Australian clinical genetic-testing laboratories to support variant interpretation von Tudini, Emma, Andrews, James, Lawrence, David M., King-Smith, Sarah L., Baker, Naomi, Baxter, Leanne, Beilby, John, Bennetts, Bruce, Beshay, Victoria, Black, Michael, Boughtwood, Tiffany F., Brion, Kristian, Cheong, Pak Leng, Christie, Michael, Christodoulou, John, Cox, Kathy, Davis, Mark R., Dejong, Lucas, Dinger, Marcel E., Doig, Kenneth D., Douglas, Evelyn, Dubowsky, Andrew, Ellul, Melissa, Fellowes, Andrew, Fisk, Katrina, Fortuno, Cristina, Friend, Kathryn, Gallagher, Renee L., Gao, Song, Hackett, Emma, Hadler, Johanna, Hipwell, Michael, Ho, Gladys, Hollway, Georgina, Hooper, Amanda J., Kassahn, Karin S., Krishnaraj, Rahul, Lau, Chiyan, Le, Huong, San Leong, Huei, Lundie, Ben, Lunke, Sebastian, Marty, Anthony, McPhillips, Mary, Nguyen, Lan T., Nones, Katia, Palmer, Kristen, Pearson, John V., Quinn, Michael C.J., Rawlings, Lesley H., Sadedin, Simon, Sanchez, Louisa, Schreiber, Andreas W., Sigalas, Emanouil, Simsek, Aygul, Soubrier, Julien, Stark, Zornitza, Thompson, Bryony A., U, James, Vakulin, Cassandra G., Wells, Amanda V., Wise, Cheryl A., Woods, Rick, Ziolkowski, Andrew, Brion, Marie-Jo, Scott, Hamish S., Thorne, Natalie P., Spurdle, Amanda B., Akesson, Lauren, Allcock, Richard, Ashton, Katie, Bell, Damon A., Brown, Anna, Buckley, Michael, Burrows, Linda, Byrne, Alicia, Chan, Eva, Cliffe, Corrina, Clifton-Bligh, Roderick, Dooley, Susan, Fernandez, Miriam Fanjul, Farnsworth, Elizabeth, Ha, Thuong, Henry, Denae, Holds, Duncan, Holman, Katherine, Jackson, Matilda, Kang, Sinlay, Luxford, Catherine, McManus, Sam, Mehrtens, Rachael, Meldrum, Cliff, Pantaleo, Sarah-Jane, Phelan, Dean, Pontikinas, Electra, Ravine, Anja, Roscioli, Tony, Scott, Rodney, Simons, Keryn, Vanwageningen, Oliver

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