Patient-iPSC-Derived Kidney Organoids Show Functional Validation of a Ciliopathic Renal Phenotype and Reveal Underlying Pathogenetic Mechanisms
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, Little, Melissa H.
Published in American journal of human genetics (03.05.2018)
Published in American journal of human genetics (03.05.2018)
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Journal Article
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy
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, Wolf, Nicole I.
Published in American journal of human genetics (07.11.2019)
Published in American journal of human genetics (07.11.2019)
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Journal Article
Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III
Thiffault, Isabelle, Wolf, Nicole I., Forget, Diane, Guerrero, Kether, Tran, Luan T., Choquet, Karine, Lavallée-Adam, Mathieu, Poitras, Christian, Brais, Bernard, Yoon, Grace, Sztriha, Laszlo, Webster, Richard I., Timmann, Dagmar, van de Warrenburg, Bart P., Seeger, Jürgen, Zimmermann, Alíz, Máté, Adrienn, Goizet, Cyril, Fung, Eva, van der Knaap, Marjo S., Fribourg, Sébastien, Vanderver, Adeline, Simons, Cas, Taft, Ryan J., Yates III, John R., Coulombe, Benoit, Bernard, Geneviève
Published in Nature communications (07.07.2015)
Published in Nature communications (07.07.2015)
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The RNA helicase Ddx21 controls Vegfc-driven developmental lymphangiogenesis by balancing endothelial cell ribosome biogenesis and p53 function
Koltowska, Katarzyna, Okuda, Kazuhide S., Gloger, Marleen, Rondon-Galeano, Maria, Mason, Elizabeth, Xuan, Jiachen, Dudczig, Stefanie, Chen, Huijun, Arnold, Hannah, Skoczylas, Renae, Bower, Neil I., Paterson, Scott, Lagendijk, Anne Karine, Baillie, Gregory J., Leshchiner, Ignaty, Simons, Cas, Smith, Kelly A., Goessling, Wolfram, Heath, Joan K., Pearson, Richard B., Sanij, Elaine, Schulte-Merker, Stefan, Hogan, Benjamin M.
Published in Nature cell biology (01.11.2021)
Published in Nature cell biology (01.11.2021)
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Journal Article
Long noncoding RNAs in mouse embryonic stem cell pluripotency and differentiation
Dinger, Marcel E, Amaral, Paulo P, Mercer, Tim R, Pang, Ken C, Bruce, Stephen J, Gardiner, Brooke B, Askarian-Amiri, Marjan E, Ru, Kelin, Soldà, Giulia, Simons, Cas, Sunkin, Susan M, Crowe, Mark L, Grimmond, Sean M, Perkins, Andrew C, Mattick, John S
Published in Genome Research (01.09.2008)
Published in Genome Research (01.09.2008)
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Journal Article
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy
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, Taft, Ryan J
Published in Nature genetics (01.01.2015)
Published in Nature genetics (01.01.2015)
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A mutation affecting laminin alpha 5 polymerisation gives rise to a syndromic developmental disorder
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, Smyth, Ian M
Published in Development (Cambridge) (22.06.2020)
Published in Development (Cambridge) (22.06.2020)
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Adult-Diagnosed Nonsyndromic Nephronophthisis in Australian Families Caused by Biallelic NPHP4 Variants
Hudson, Rebecca, Patel, Chirag, Hawley, Carmel M., O’Shea, Stacey, Snelling, Paul, Ho, Gladys, Holman, Katherine, Bennetts, Bruce, Crawford, Joanna, Francis, Leo, Simons, Cas, Mallett, Andrew
Published in American journal of kidney diseases (01.08.2020)
Published in American journal of kidney diseases (01.08.2020)
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Journal Article
Expression of distinct RNAs from 3' untranslated regions
Mercer, Tim R, Wilhelm, Dagmar, Dinger, Marcel E, Soldà, Giulia, Korbie, Darren J, Glazov, Evgeny A, Truong, Vy, Schwenke, Maren, Simons, Cas, Matthaei, Klaus I, Saint, Robert, Koopman, Peter, Mattick, John S
Published in Nucleic acids research (01.03.2011)
Published in Nucleic acids research (01.03.2011)
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ahctf1 and kras mutations combine to amplify oncogenic stress and restrict liver overgrowth in a zebrafish model of hepatocellular carcinoma
Morgan, Kimberly J, Doggett, Karen, Geng, Fansuo, Mieruszynski, Stephen, Whitehead, Lachlan, Smith, Kelly A, Hogan, Benjamin M, Simons, Cas, Baillie, Gregory J, Molania, Ramyar, Papenfuss, Anthony T, Hall, Thomas E, Ober, Elke A, Stainier, Didier Y R, Gong, Zhiyuan, Heath, Joan K
Published in eLife (17.01.2023)
Published in eLife (17.01.2023)
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Journal Article
Heterozygous NOTCH1 Variants Cause CNS Immune Activation and Microangiopathy
Helman, Guy, Zarekiani, Parand, Tromp, Samantha A.M., Andrews, Ashley, Botto, Lorenzo D., Bonkowsky, Joshua L., Chassevent, Anna, Giorgio, Elisa, Pippucci, Tommaso, Wei, Shen, Smith‐Hicks, Constance, Vaula, Giovanna, Willemsen, Michèl A.A.P, Schimmel, Mareike, Vollert, Kurt, Shimizu, Fumitaka, Kanda, Takashi, Lynch, Matthew, Roscioli, Tony, Taft, Ryan J., Simons, Cas, Bugiani, Marianna, Kuijpers, Taco W., Knaap, Marjo S.
Published in Annals of neurology (01.11.2022)
Published in Annals of neurology (01.11.2022)
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Journal Article
MAFB modulates the maturation of lymphatic vascular networks in mice
Rondon‐Galeano, Maria, Skoczylas, Renae, Bower, Neil I., Simons, Cas, Gordon, Emma, Francois, Mathias, Koltowska, Katarzyna, Hogan, Benjamin M.
Published in Developmental dynamics (01.10.2020)
Published in Developmental dynamics (01.10.2020)
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Journal Article
mafba is a downstream transcriptional effector of Vegfc signaling essential for embryonic lymphangiogenesis in zebrafish
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, Hogan, Benjamin M
Published in Genes & development (01.08.2015)
Published in Genes & development (01.08.2015)
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Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction
Nafisinia, Michael, Riley, Lisa G, Gold, Wendy A, Bhattacharya, Kaustuv, Broderick, Carolyn R, Thorburn, David R, Simons, Cas, Christodoulou, John
Published in PloS one (08.06.2017)
Published in PloS one (08.06.2017)
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Expanded phenotype of AARS1-related white matter disease
Helman, Guy, Mendes, Marisa I., Nicita, Francesco, Darbelli, Lama, Sherbini, Omar, Moore, Travis, Derksen, Alexa, Amy Pizzino, Carrozzo, Rosalba, Torraco, Alessandra, Catteruccia, Michela, Aiello, Chiara, Goffrini, Paola, Figuccia, Sonia, Smith, Desiree E. C., Hadzsiev, Kinga, Hahn, Andreas, Biskup, Saskia, Brösse, Ines, Kotzaeridou, Urania, Gauck, Darja, Grebe, Theresa A., Elmslie, Frances, Stals, Karen, Gupta, Rajat, Bertini, Enrico, Thiffault, Isabelle, Taft, Ryan J., Schiffmann, Raphael, Brandl, Ulrich, Haack, Tobias B., Salomons, Gajja S., Simons, Cas, Bernard, Geneviève, van der Knaap, Marjo S., Vanderver, Adeline, Husain, Ralf A.
Published in Genetics in medicine (01.12.2021)
Published in Genetics in medicine (01.12.2021)
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Journal Article
Megalencephalic leukoencephalopathy with subcortical cysts: a variant update and review of the literature
Passchier, Emma M J, Bisseling, Quinty, Helman, Guy, van Spaendonk, Rosalina M L, Simons, Cas, Olsthoorn, René C L, van der Veen, Hieke, Abbink, Truus E M, van der Knaap, Marjo S, Min, Rogier
Published in Frontiers in genetics (29.02.2024)
Published in Frontiers in genetics (29.02.2024)
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Journal Article
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome
Ghosh, Shereen G, Scala, Marcello, Beetz, Christian, Helman, Guy, Stanley, Valentina, Yang, Xiaoxu, Breuss, Martin W, Mazaheri, Neda, Selim, Laila, Hadipour, Fatemeh, Pais, Lynn, Stutterd, Chloe A, Karageorgou, Vasiliki, Begtrup, Amber, Crunk, Amy, Juusola, Jane, Willaert, Rebecca, Flore, Leigh A, Kennelly, Kelly, Spencer, Christopher, Brown, Martha, Trapane, Pamela, Hurst, Anna C E, Lane Rutledge, S, Goodloe, Dana H, McDonald, Marie T, Shashi, Vandana, Schoch, Kelly, Tomoum, Hoda, Zaitoun, Raghda, Hadipour, Zahra, Galehdari, Hamid, Pagnamenta, Alistair T, Mojarrad, Majid, Sedaghat, Alireza, Dias, Patrícia, Quintas, Sofia, Eslahi, Atiyeh, Shariati, Gholamreza, Bauer, Peter, Simons, Cas, Houlden, Henry, Issa, Mahmoud Y, Zaki, Maha S, Maroofian, Reza, Gleeson, Joseph G
Published in European journal of human genetics : EJHG (01.02.2021)
Published in European journal of human genetics : EJHG (01.02.2021)
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Generation of human induced pluripotential stem cells from individuals with complex heterozygous, isogenic corrected, and homozygous Bloc1s1 mutations
Wu, Kaiyuan, Takanohashi, Asako, Woidill, Sarah, Seylani, Allen, Helman, Guy, Dias, Patricia, Beers, Jeanette, Lin, Yongshun, Simons, Cas, Wolvetang, Ernst, Zou, Jizhong, Vanderver, Adeline, Sack, Michael N.
Published in Stem cell research (01.10.2022)
Published in Stem cell research (01.10.2022)
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Evolution, biogenesis and function of promoter-associated RNAs
Taft, Ryan J., Kaplan, Craig D., Simons, Cas, Mattick, John S.
Published in Cell cycle (Georgetown, Tex.) (01.08.2009)
Published in Cell cycle (Georgetown, Tex.) (01.08.2009)
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Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy
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, Yoon, Grace
Published in Orphanet journal of rare diseases (31.05.2018)
Published in Orphanet journal of rare diseases (31.05.2018)
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