Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.

Rice GI, Del Toro Duany Y, Jenkinson EM, Forte GM, Anderson BH, Ariaudo G, Bader-Meunier B, Baildam EM, Battini R, Beresford MW, Casarano M, Chouchane M, Cimaz R, Collins AE, Cordeiro NJ, Dale RC, Davidson JE, De Waele L, Desguerre I, Faivre L, Fazzi E, Isidor B, Lagae L, Latchman AR, Lebon P, Li C, Livingston JH, Lourenço CM, Mancardi MM, Masurel-Paulet A, McInnes IB, Menezes MP, Mignot C, O'Sullivan J, Orcesi S, Picco PP, Riva E, Robinson RA, Rodriguez D, Salvatici E, Scott C, Szybowska M, Tolmie JL, Vanderver A, Vanhulle C, Vieira JP, Webb K, Whitney RN, Williams SG, Wolfe LA, Zuberi SM, Hur S, Crow YJ

Open source

DOI
10.1038/ng.2933
Published
2014 May
Container
Nature genetics
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1038/ng.2933,
  title = {Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.},
  author = {Rice GI and Del Toro Duany Y and Jenkinson EM and Forte GM and Anderson BH and Ariaudo G and Bader-Meunier B and Baildam EM and Battini R and Beresford MW and Casarano M and Chouchane M and Cimaz R and Collins AE and Cordeiro NJ and Dale RC and Davidson JE and De Waele L and Desguerre I and Faivre L and Fazzi E and Isidor B and Lagae L and Latchman AR and Lebon P and Li C and Livingston JH and Lourenço CM and Mancardi MM and Masurel-Paulet A and McInnes IB and Menezes MP and Mignot C and O'Sullivan J and Orcesi S and Picco PP and Riva E and Robinson RA and Rodriguez D and Salvatici E and Scott C and Szybowska M and Tolmie JL and Vanderver A and Vanhulle C and Vieira JP and Webb K and Whitney RN and Williams SG and Wolfe LA and Zuberi SM and Hur S and Crow YJ},
  year = {2014},
  journal = {Nature genetics},
  doi = {10.1038/ng.2933},
  url = {https://doi.org/10.1038/ng.2933}
}

RIS

TY  - JOUR
TI  - Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.
AU  - Rice GI
AU  - Del Toro Duany Y
AU  - Jenkinson EM
AU  - Forte GM
AU  - Anderson BH
AU  - Ariaudo G
AU  - Bader-Meunier B
AU  - Baildam EM
AU  - Battini R
AU  - Beresford MW
AU  - Casarano M
AU  - Chouchane M
AU  - Cimaz R
AU  - Collins AE
AU  - Cordeiro NJ
AU  - Dale RC
AU  - Davidson JE
AU  - De Waele L
AU  - Desguerre I
AU  - Faivre L
AU  - Fazzi E
AU  - Isidor B
AU  - Lagae L
AU  - Latchman AR
AU  - Lebon P
AU  - Li C
AU  - Livingston JH
AU  - Lourenço CM
AU  - Mancardi MM
AU  - Masurel-Paulet A
AU  - McInnes IB
AU  - Menezes MP
AU  - Mignot C
AU  - O'Sullivan J
AU  - Orcesi S
AU  - Picco PP
AU  - Riva E
AU  - Robinson RA
AU  - Rodriguez D
AU  - Salvatici E
AU  - Scott C
AU  - Szybowska M
AU  - Tolmie JL
AU  - Vanderver A
AU  - Vanhulle C
AU  - Vieira JP
AU  - Webb K
AU  - Whitney RN
AU  - Williams SG
AU  - Wolfe LA
AU  - Zuberi SM
AU  - Hur S
AU  - Crow YJ
PY  - 2014
JO  - Nature genetics
DO  - 10.1038/ng.2933
UR  - https://doi.org/10.1038/ng.2933
ER  - 

APA

GI, R., Y, D. T. D., EM, J., GM, F., BH, A., G, A., B, B., EM, B., R, B., MW, B., M, C., M, C., R, C., AE, C., NJ, C., RC, D., JE, D., L, D. W., I, D., L, F., E, F., B, I., L, L., AR, L., P, L., C, L., JH, L., CM, L., MM, M., A, M., IB, M., MP, M., C, M., J, O., S, O., PP, P., E, R., RA, R., D, R., E, S., C, S., M, S., JL, T., A, V., C, V., JP, V., K, W., RN, W., SG, W., LA, W., SM, Z., S, H., & YJ, C. (2014). Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.. Nature genetics. https://doi.org/10.1038/ng.2933

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