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

YJ Crow, DS Chase, JL Schmidt, M Szynkiewicz, GMA Forte, HL Gornall, A Oojageer, B Anderson, A Pizzino, G Helman, et al. (2015) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 167(2). p.296-312
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
Aicardi-Goutieres syndrome, bilateral striatal necrosis, CLASSIFICATION-SYSTEM, CEREBRAL-PALSY, PROGRESSIVE FAMILIAL ENCEPHALOPATHY, CEREBROSPINAL-FLUID LYMPHOCYTOSIS, I INTERFERON SIGNATURE, DNA EXONUCLEASE TREX1, SYSTEMIC-LUPUS-ERYTHEMATOSUS, spastic paraparesis, type I interferon, interferon signature, AICARDI-GOUTIERES-SYNDROME, BASAL GANGLIA, GENE
journal title
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Am. J. Med. Genet. A
volume
167
issue
2
pages
296 - 312
Web of Science type
Article
Web of Science id
000348843600007
JCR category
GENETICS & HEREDITY
JCR impact factor
2.082 (2015)
JCR rank
106/165 (2015)
JCR quartile
3 (2015)
ISSN
1552-4825
DOI
10.1002/ajmg.a.36887
language
English
UGent publication?
yes
classification
A1
additional info
the last three authors wish it to be known that, in their opinion, these persons should be regarded as joint senior authors
copyright statement
I have transferred the copyright for this publication to the publisher
id
8073707
handle
http://hdl.handle.net/1854/LU-8073707
date created
2016-09-14 11:20:30
date last changed
2016-12-19 15:40:39
@article{8073707,
  author       = {Crow, YJ and Chase, DS and Schmidt, JL and Szynkiewicz, M and Forte, GMA and Gornall, HL and Oojageer, A and Anderson, B and Pizzino, A and Helman, G and Abdel-Hamid, MS and Abdel-Salam, GM and Ackroyd, S and Aeby, A and Agosta, G and Albin, C and Allon-Shalev, S and Arellano, M and Ariaudo, G and Aswani, V and Babul-Hirji, R and Baildam, EM and Bahi-Buisson, N and Bailey, KM and Barnerias, C and Barth, M and Battini, R and Beresford, MW and Bernard, G and Bianchi, M and de Villemeur, TB and Blair, EM and Bloom, M and Burlina, AB and Carpanelli, ML and Carvalho, DR and Castro-Gago, M and Cavallini, A and Cereda, C and Chandler, KE and Chitayat, DA and Collins, AE and Corcoles, CS and Cordeiro, NJV and Crichiutti, G and Dabydeen, L and Dale, RC and D'Arrigo, S and De Goede, CGEL and De Laet, C and De Waele, LMH and Denzler, I and Desguerre, I and Devriendt, K and Di Rocco, M and Fahey, MC and Fazzi, E and Ferrie, CD and Figueiredo, A and Gener, B and Goizet, C and Gowrinathan, NR and Gowrishankar, K and Hanrahan, D and Isidor, B and Kara, L and Khan, N and King, MD and Kirk, EP and Kumar, R and Lagae, L and Landrieu, P and Lauffer, H and Laugel, V and La Piana, R and Lim, MJ and Lin, JPSM and Linnankivi, T and Mackay, MT and Marom, DR and Lourenco, CM and McKee, SA and Moroni, I and Morton, JEV and Moutard, ML and Murray, K and Nabbout, R and Nampoothiri, S and Nunez-Enamorado, N and Oades, PJ and Olivieri, I and Ostergaard, JR and Perez-Duenas, B and Prendiville, JS and Ramesh, V and Rasmussen, M and Regal, L and Ricci, F and Rio, M and Rodriguez, D and Roubertie, A and Salvatici, E and Segers, KA and Sinha, GP and Soler, D and Spiegel, R and Stodberg, TI and Straussberg, R and Swoboda, KJ and Suri, M and Tacke, U and Tan, TY and Naude, JT and Teik, KW and Thomas, MM and Till, M and Tonduti, D and Valente, EM and Van Coster, Rudy and van der Knaap, MS and Vassallo, G and Vijzelaar, R and Vogt, J and Wallace, GB and Wassmer, E and Webb, HJ and Whitehouse, WP and Whitney, RN and Zaki, MS and Zuberi, SM and Livingston, JH and Rozenberg, F and Lebon, P and Vanderver, A and Orcesi, S and Rice, GI},
  issn         = {1552-4825},
  journal      = {AMERICAN JOURNAL OF MEDICAL GENETICS PART A},
  keyword      = {Aicardi-Goutieres syndrome,bilateral striatal necrosis,CLASSIFICATION-SYSTEM,CEREBRAL-PALSY,PROGRESSIVE FAMILIAL ENCEPHALOPATHY,CEREBROSPINAL-FLUID LYMPHOCYTOSIS,I INTERFERON SIGNATURE,DNA EXONUCLEASE TREX1,SYSTEMIC-LUPUS-ERYTHEMATOSUS,spastic paraparesis,type I interferon,interferon signature,AICARDI-GOUTIERES-SYNDROME,BASAL GANGLIA,GENE},
  language     = {eng},
  number       = {2},
  pages        = {296--312},
  title        = {Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1},
  url          = {http://dx.doi.org/10.1002/ajmg.a.36887},
  volume       = {167},
  year         = {2015},
}

Chicago
Crow, YJ, DS Chase, JL Schmidt, M Szynkiewicz, GMA Forte, HL Gornall, A Oojageer, et al. 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.
APA
Crow, Y., Chase, D., Schmidt, J., Szynkiewicz, M., Forte, G., Gornall, H., Oojageer, A., et al. (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.
Vancouver
1.
Crow Y, Chase D, Schmidt J, Szynkiewicz M, Forte G, Gornall H, et al. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2015;167(2):296–312.
MLA
Crow, YJ, DS Chase, JL Schmidt, et al. “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 (2015): 296–312. Print.