Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

Crow, Yanick J., Chase, Diana S., Schmidt, Johanna Lowenstein, Szynkiewicz, Marcin, Forte, Gabriella M. A., Gornall, Hannah L., Oojageer, Anthony, Anderson, Beverley, Pizzino, Amy, Helman, Guy, Abdel-Hamid, Mohamed S., Abdel-Salam, Ghada M., Ackroyd, Sam, Aeby, Alec, Agosta, Guillermo, Albin, Catherine, Allon-Shalev, Stavit, Arellano, Montse, Ariaudo, Giada, Aswani, Vijay, Babul-Hirji, Riyana, Baildam, Eileen M., Bahi-Buisson, Nadia, Bailey, Kathryn M., Barnerias, Christine, Barth, Magalie, Battini, Roberta, Beresford, Michael W., Bernard, Genevieve, Bianchi, Marika, de Villemeur, Thierry Billette, Blair, Edward M., Bloom, Miriam, Burlina, Alberto B., Carpanelli, Maria Luisa, Carvalho, Daniel R., 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., D'Arrigo, Stefano, De Goede, Christian G. E. L., De Laet, Corinne, De Waele, Liesbeth M. H., Denzler, Ines, Desguerre, Isabelle, Devriendt, Koenraad, Di Rocco, Maja, Fahey, Michael C., Fazzi, Elisa, Ferrie, Colin D., Figueiredo, Antonio, Gener, Blanca, Goizet, Cyril, Gowrinathan, Nirmala R., Gowrishankar, Kalpana, Hanrahan, Donncha, Isidor, Bertrand, Kara, Lent, Khan, Nasaim, King, Mary D., Kirk, Edwin P., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre, Lauffer, Heinz, Laugel, Vincent, La Piana, Roberta, Lim, Ming J., Lin, Jean-Pierre S. -M., Linnankivi, Tarja, Mackay, Mark T., Marom, Daphna R., Lourenco, Charles Marques, McKee, Shane A., Moroni, Isabella, Morton, Jenny E. V., Moutard, Marie-Laure, Murray, Kevin, Nabbout, Rima, Nampoothiri, Sheela, Nunez-Enamorado, Noemi, Oades, Patrick J., Olivieri, Ivana, Ostergaard, John R., Perez-Duenas, Belen, Prendiville, Julie S., Ramesh, Venkateswaran, Rasmussen, Magnhild, Regal, Luc, Ricci, Federica, Rio, Marlene, Rodriguez, Diana, Roubertie, Agathe, Salvatici, Elisabetta, Segers, Karin A., Sinha, Gyanranjan P., Soler, Doriette, Spiegel, Ronen, Stoedberg, Tommy I., Straussberg, Rachel, Swoboda, Kathryn J., Suri, Mohnish, Tacke, Uta, Tan, Tiong Y., Naude, Johann te Water, Teik, Keng Wee, Thomas, Maya Mary, Till, Marianne, Tonduti, Davide, Valente, Enza Maria, Van Coster, Rudy Noel, van der Knaap, Marjo S., Vassallo, Grace, Vijzelaar, Raymon, Vogt, Julie, 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, Lebon, Pierre, Vanderver, Adeline, Orcesi, Simona and Rice, Gillian I. (2015) Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. American Journal of Medical Genetics, Part A, 167 2: 296-312. doi:10.1002/ajmg.a.36887


Author Crow, Yanick J.
Chase, Diana S.
Schmidt, Johanna Lowenstein
Szynkiewicz, Marcin
Forte, Gabriella M. A.
Gornall, Hannah L.
Oojageer, Anthony
Anderson, Beverley
Pizzino, Amy
Helman, Guy
Abdel-Hamid, Mohamed S.
Abdel-Salam, Ghada M.
Ackroyd, Sam
Aeby, Alec
Agosta, Guillermo
Albin, Catherine
Allon-Shalev, Stavit
Arellano, Montse
Ariaudo, Giada
Aswani, Vijay
Babul-Hirji, Riyana
Baildam, Eileen M.
Bahi-Buisson, Nadia
Bailey, Kathryn M.
Barnerias, Christine
Barth, Magalie
Battini, Roberta
Beresford, Michael W.
Bernard, Genevieve
Bianchi, Marika
de Villemeur, Thierry Billette
Blair, Edward M.
Bloom, Miriam
Burlina, Alberto B.
Carpanelli, Maria Luisa
Carvalho, Daniel R.
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.
D'Arrigo, Stefano
De Goede, Christian G. E. L.
De Laet, Corinne
De Waele, Liesbeth M. H.
Denzler, Ines
Desguerre, Isabelle
Devriendt, Koenraad
Di Rocco, Maja
Fahey, Michael C.
Fazzi, Elisa
Ferrie, Colin D.
Figueiredo, Antonio
Gener, Blanca
Goizet, Cyril
Gowrinathan, Nirmala R.
Gowrishankar, Kalpana
Hanrahan, Donncha
Isidor, Bertrand
Kara, Lent
Khan, Nasaim
King, Mary D.
Kirk, Edwin P.
Kumar, Ram
Lagae, Lieven
Landrieu, Pierre
Lauffer, Heinz
Laugel, Vincent
La Piana, Roberta
Lim, Ming J.
Lin, Jean-Pierre S. -M.
Linnankivi, Tarja
Mackay, Mark T.
Marom, Daphna R.
Lourenco, Charles Marques
McKee, Shane A.
Moroni, Isabella
Morton, Jenny E. V.
Moutard, Marie-Laure
Murray, Kevin
Nabbout, Rima
Nampoothiri, Sheela
Nunez-Enamorado, Noemi
Oades, Patrick J.
Olivieri, Ivana
Ostergaard, John R.
Perez-Duenas, Belen
Prendiville, Julie S.
Ramesh, Venkateswaran
Rasmussen, Magnhild
Regal, Luc
Ricci, Federica
Rio, Marlene
Rodriguez, Diana
Roubertie, Agathe
Salvatici, Elisabetta
Segers, Karin A.
Sinha, Gyanranjan P.
Soler, Doriette
Spiegel, Ronen
Stoedberg, Tommy I.
Straussberg, Rachel
Swoboda, Kathryn J.
Suri, Mohnish
Tacke, Uta
Tan, Tiong Y.
Naude, Johann te Water
Teik, Keng Wee
Thomas, Maya Mary
Till, Marianne
Tonduti, Davide
Valente, Enza Maria
Van Coster, Rudy Noel
van der Knaap, Marjo S.
Vassallo, Grace
Vijzelaar, Raymon
Vogt, Julie
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
Lebon, Pierre
Vanderver, Adeline
Orcesi, Simona
Rice, Gillian I.
Title Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
Journal name American Journal of Medical Genetics, Part A   Check publisher's open access policy
ISSN 1552-4833
Publication date 2015-02-01
Sub-type Article (original research)
DOI 10.1002/ajmg.a.36887
Volume 167
Issue 2
Start page 296
End page 312
Total pages 17
Place of publication Hoboken, NJ United States
Publisher John Wiley & Sons
Collection year 2016
Language eng
Keyword Aicardi-Goutières syndrome
Bilateral striatal necrosis
Interferon signature
Spastic paraparesis
Type I interferon
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: Mater Research Institute-UQ (MRI-UQ)
Non HERDC
 
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