Basal Ganglia Calcification in a Patient With Beta-Propeller Protein-Associated Neurodegeneration
Van Goethem, Gert, MD, PhD, Livingston, John H., MD, Warren, Daniel, MD, Oojageer, Anthony J., BSc, Rice, Gillian I., PhD, Crow, Yanick J., MD, PhD
Published in Pediatric neurology (01.12.2014)
Published in Pediatric neurology (01.12.2014)
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Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease
Rice, Gillian I., Melki, Isabelle, Frémond, Marie-Louise, Briggs, Tracy A., Rodero, Mathieu P., Kitabayashi, Naoki, Oojageer, Anthony, Bader-Meunier, Brigitte, Belot, Alexandre, Bodemer, Christine, Quartier, Pierre, Crow, Yanick J.
Published in Journal of clinical immunology (01.02.2017)
Published in Journal of clinical immunology (01.02.2017)
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Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Mimic of Childhood Granulomatosis With Polyangiitis
Munoz, Justine, Rodière, Michel, Jeremiah, Nadia, Rieux-Laucat, Frédéric, Oojageer, Anthony, Rice, Gillian I, Rozenberg, Flore, Crow, Yanick J, Bessis, Didier
Published in JAMA dermatology (Chicago, Ill.) (01.08.2015)
Published in JAMA dermatology (Chicago, Ill.) (01.08.2015)
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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
Crow, Yanick J., Chase, Diana S., Lowenstein Schmidt, Johanna, Szynkiewicz, Marcin, Forte, Gabriella M.A., Gornall, Hannah L., Oojageer, Anthony, Anderson, Beverley, Helman, Guy, Abdel-Salam, Ghada M., Aeby, Alec, Agosta, Guillermo, Albin, Catherine, Allon-Shalev, Stavit, Arellano, Montse, Ariaudo, Giada, Aswani, Vijay, Babul-Hirji, Riyana, Bahi-Buisson, Nadia, Bailey, Kathryn M., Barth, Magalie, Battini, Roberta, Beresford, Michael W., Bernard, Geneviève, Bianchi, Marika, Blair, Edward M., Burlina, Alberto B., Luisa Carpanelli, Maria, Castro-Gago, Manuel, Cavallini, Anna, Cereda, Cristina, Chandler, Kate E., Chitayat, David A., Collins, Abigail E., Sierra Corcoles, Concepcion, Cordeiro, Nuno J.V., Crichiutti, Giovanni, Dabydeen, Lyvia, Dale, Russell C., De Goede, Christian G.E.L., De Laet, Corinne, De Waele, Liesbeth M.H., Desguerre, Isabelle, Devriendt, Koenraad, Fazzi, Elisa, Figueiredo, António, Gener, Blanca, Goizet, Cyril, Gowrishankar, Kalpana, Hanrahan, Donncha, Isidor, Bertrand, Khan, Nasaim, King, Mary D., Kumar, Ram, Landrieu, Pierre, Lauffer, Heinz, Laugel, Vincent, Lim, Ming J., Lin, Jean-Pierre S.-M., Linnankivi, Tarja, Mackay, Mark T., Marom, Daphna R., McKee, Shane A., Murray, Kevin, Nabbout, Rima, Nampoothiri, Sheela, Nunez-Enamorado, Noemi, Oades, Patrick J., Ostergaard, John R., Pérez-Dueñas, Belén, Prendiville, Julie S., Rasmussen, Magnhild, Ricci, Federica, Rio, Marlène, Rodriguez, Diana, Roubertie, Agathe, Sinha, Gyanranjan P., Soler, Doriette, Spiegel, Ronen, Stödberg, Tommy I., Straussberg, Rachel, Suri, Mohnish, Tan, Tiong Y., te Water Naude, Johann, Maria Valente, Enza, van der Knaap, Marjo S., Vassallo, Grace, Vijzelaar, Raymon, Wallace, Geoffrey B., Wassmer, Evangeline, Webb, Hannah J., Whitehouse, William P., Whitney, Robyn N., Zaki, Maha S., Zuberi, Sameer M., Livingston, John H., Rozenberg, Flore, Vanderver, Adeline, Orcesi, Simona, Rice, Gillian I.
Published in American journal of medical genetics. Part A (01.02.2015)
Published in American journal of medical genetics. Part A (01.02.2015)
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Journal Article
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
Jenkinson, Emma M, Rodero, Mathieu P, Kasher, Paul R, Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C, Rose, Yoann, Kershaw, Christopher J, Urquhart, Jill E, Williams, Simon G, Bhaskar, Sanjeev S, O'Sullivan, James, Baerlocher, Gabriela M, Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W, Barnicoat, Angela J, Battini, Roberta, Berger, Andrea, Blair, Edward M, Brunstrom-Hernandez, Janice E, Buckard, Johannes A, Cassiman, David M, Caumes, Rosaline, Cordelli, Duccio M, De Waele, Liesbeth M, Fay, Alexander J, Ferreira, Patrick, Fletcher, Nicholas A, Fryer, Alan E, Goel, Himanshu, Hemingway, Cheryl A, Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J, Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G, Lourenço, Charles M, Malpas, Timothy J, Mehta, Sarju G, Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Gerardine, Schiffmann, Raphael, Sherr, Elliott H, Sinnathuray, Kanaga R, Soh, Calvin, Stewart, Helen S, Stone, John, Van Esch, Hilde, Van Mol, Christine E G, Vanderver, Adeline, Wakeling, Emma L, Whitney, Andrea, Pavitt, Graham D, Griffiths-Jones, Sam, Rice, Gillian I, Revy, Patrick, van der Knaap, Marjo S, Livingston, John H, O'Keefe, Raymond T, Crow, Yanick J
Published in Nature genetics (01.10.2016)
Published in Nature genetics (01.10.2016)
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Abstract 4259: A novel human model of lung squamous cell carcinoma to deconvolve the cell-intrinsic effects of key dysregulated pathways
Ogden, Julia, Sellers, Robert, Oojageer, Anthony, Sahoo, Sudhakar, Chaturvedi, Anshuman, Lopez-Garcia, Carlos
Published in Cancer research (Chicago, Ill.) (22.03.2024)
Published in Cancer research (Chicago, Ill.) (22.03.2024)
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Mutations in CECR1 associated with a neutrophil signature in peripheral blood
Belot, Alexandre, Wassmer, Evangeline, Twilt, Marinka, Lega, Jean-Christophe, Zeef, Leo Ah, Oojageer, Anthony, Kasher, Paul R, Mathieu, Anne-Laure, Malcus, Christophe, Demaret, Julie, Fabien, Nicole, Collardeau-Frachon, Sophie, Mechtouff, Laura, Derex, Laurent, Walzer, Thierry, Rice, Gillian I, Durieu, Isabelle, Crow, Yanick J
Published in Pediatric Rheumatology (24.09.2014)
Published in Pediatric Rheumatology (24.09.2014)
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Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
Jenkinson, Emma M, Rodero, Mathieu P, Kasher, Paul R, Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C, Rose, Yoann, Kershaw, Christopher J, Urquhart, Jill E, Williams, Simon G, Bhaskar, Sanjeev S, O'Sullivan, James, Baerlocher, Gabriela M, Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W, Barnicoat, Angela J, Battini, Roberta, Berger, Andrea, Blair, Edward M, Brunstrom-Hernandez, Janice E, Buckard, Johannes A, Cassiman, David M, Caumes, Rosaline, Cordelli, Duccio M, De Waele, Liesbeth M, Fay, Alexander J, Ferreira, Patrick, Fletcher, Nicholas A, Fryer, Alan E, Goel, Himanshu, Hemingway, Cheryl A, Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J, Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G, Lourenço, Charles M, Malpas, Timothy J, Mehta, Sarju G, Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Gerardine, Schiffmann, Raphael, Sherr, Elliott H, Sinnathuray, Kanaga R, Soh, Calvin, Stewart, Helen S, Stone, John, Van Esch, Hilde, Van Mol, Christine E G, Vanderver, Adeline, Wakeling, Emma L, Whitney, Andrea, Pavitt, Graham D, Griffiths-Jones, Sam, Rice, Gillian I, Revy, Patrick, van der Knaap, Marjo S, Livingston, John H, O'Keefe, Raymond T, Crow, Yanick J
Published in Nature genetics (01.02.2017)
Published in Nature genetics (01.02.2017)
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Erratum: Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
Jenkinson, Emma M, Rodero, Mathieu P, Kasher, Paul R, Uggenti, Carolina, Oojageer, Anthony, Goosey, Laurence C, Rose, Yoann, Kershaw, Christopher J, Urquhart, Jill E, Williams, Simon G, Bhaskar, Sanjeev S, O'Sullivan, James, Baerlocher, Gabriela M, Haubitz, Monika, Aubert, Geraldine, Barañano, Kristin W, Barnicoat, Angela J, Battini, Roberta, Berger, Andrea, Blair, Edward M, Brunstrom-Hernandez, Janice E, Buckard, Johannes A, Cassiman, David M, Caumes, Rosaline, Cordelli, Duccio M, De Waele, Liesbeth M, Fay, Alexander J, Ferreira, Patrick, Fletcher, Nicholas A, Fryer, Alan E, Goel, Himanshu, Hemingway, Cheryl A, Henneke, Marco, Hughes, Imelda, Jefferson, Rosalind J, Kumar, Ram, Lagae, Lieven, Landrieu, Pierre G, Lourenço, Charles M, Malpas, Timothy J, Mehta, Sarju G, Metz, Imke, Naidu, Sakkubai, Õunap, Katrin, Panzer, Axel, Prabhakar, Prab, Quaghebeur, Gerardine, Schiffmann, Raphael, Sherr, Elliott H, Sinnathuray, Kanaga R, Soh, Calvin, Stewart, Helen S, Stone, John, Van Esch, Hilde, Van Mol, Christine E G, Vanderver, Adeline, Wakeling, Emma L, Whitney, Andrea, Pavitt, Graham D, Griffiths-Jones, Sam, Rice, Gillian I, Revy, Patrick, van der Knaap, Marjo S, Livingston, John H, O'Keefe, Raymond T, Crow, Yanick J
Published in Nature genetics (01.02.2017)
Published in Nature genetics (01.02.2017)
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Comparison of germ line minisatellite mutation detection at the CEB1 locus by Southern blotting and PCR amplification
Taylor, Malcolm, Cieslak, Marcin, Rees, Gwen S., Oojageer, Anthony, Leith, Cheryl, Bristow, Claire, Tawn, E. Janet, Winther, Jeanette F., Boice, John D.
Published in Mutagenesis (01.07.2010)
Published in Mutagenesis (01.07.2010)
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A novel human model to deconvolve cell-intrinsic phenotypes of genetically dysregulated pathways in lung squamous cell carcinoma
Ogden, Julia, Sellers, Robert, Sahoo, Sudhakar, Oojageer, Anthony, Chaturvedi, Anshuman, Dive, Caroline, Lopez-Garcia, Carlos
Published in bioRxiv (14.12.2023)
Published in bioRxiv (14.12.2023)
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