Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.

Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L, Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, De Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly DA, Lev D, Levrat V, Livingston JH, Marti I, Mignot C, Mochel F, Nougues MC, Oppermann I, Pérez-Dueñas B, Popp B, Rodero MP, Rodriguez D, Saletti V, Sharpe C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E, Wiedemann A, Wilson CJ, Zerem A, Zweier C, Zuberi SM, Orcesi S, Vanderver AL, Hur S, Crow YJ

Open source

DOI: 10.1002/humu.23975
Published: 2020 Apr
Container: Human mutation
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1002/humu.23975,
  title = {Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.},
  author = {Rice GI and Park S and Gavazzi F and Adang LA and Ayuk LA and Van Eyck L and Seabra L and Barrea C and Battini R and Belot A and Berg S and Billette de Villemeur T and Bley AE and Blumkin L and Boespflug-Tanguy O and Briggs TA and Brimble E and Dale RC and Darin N and Debray FG and De Giorgis V and Denecke J and Doummar D and Drake Af Hagelsrum G and Eleftheriou D and Estienne M and Fazzi E and Feillet F and Galli J and Hartog N and Harvengt J and Heron B and Heron D and Kelly DA and Lev D and Levrat V and Livingston JH and Marti I and Mignot C and Mochel F and Nougues MC and Oppermann I and Pérez-Dueñas B and Popp B and Rodero MP and Rodriguez D and Saletti V and Sharpe C and Tonduti D and Vadlamani G and Van Haren K and Tomas Vila M and Vogt J and Wassmer E and Wiedemann A and Wilson CJ and Zerem A and Zweier C and Zuberi SM and Orcesi S and Vanderver AL and Hur S and Crow YJ},
  year = {2020},
  journal = {Human mutation},
  doi = {10.1002/humu.23975},
  url = {https://doi.org/10.1002/humu.23975}
}

RIS

TY  - JOUR
TI  - Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
AU  - Rice GI
AU  - Park S
AU  - Gavazzi F
AU  - Adang LA
AU  - Ayuk LA
AU  - Van Eyck L
AU  - Seabra L
AU  - Barrea C
AU  - Battini R
AU  - Belot A
AU  - Berg S
AU  - Billette de Villemeur T
AU  - Bley AE
AU  - Blumkin L
AU  - Boespflug-Tanguy O
AU  - Briggs TA
AU  - Brimble E
AU  - Dale RC
AU  - Darin N
AU  - Debray FG
AU  - De Giorgis V
AU  - Denecke J
AU  - Doummar D
AU  - Drake Af Hagelsrum G
AU  - Eleftheriou D
AU  - Estienne M
AU  - Fazzi E
AU  - Feillet F
AU  - Galli J
AU  - Hartog N
AU  - Harvengt J
AU  - Heron B
AU  - Heron D
AU  - Kelly DA
AU  - Lev D
AU  - Levrat V
AU  - Livingston JH
AU  - Marti I
AU  - Mignot C
AU  - Mochel F
AU  - Nougues MC
AU  - Oppermann I
AU  - Pérez-Dueñas B
AU  - Popp B
AU  - Rodero MP
AU  - Rodriguez D
AU  - Saletti V
AU  - Sharpe C
AU  - Tonduti D
AU  - Vadlamani G
AU  - Van Haren K
AU  - Tomas Vila M
AU  - Vogt J
AU  - Wassmer E
AU  - Wiedemann A
AU  - Wilson CJ
AU  - Zerem A
AU  - Zweier C
AU  - Zuberi SM
AU  - Orcesi S
AU  - Vanderver AL
AU  - Hur S
AU  - Crow YJ
PY  - 2020
JO  - Human mutation
DO  - 10.1002/humu.23975
UR  - https://doi.org/10.1002/humu.23975
ER  -

APA

GI, R., S, P., F, G., LA, A., LA, A., L, V. E., L, S., C, B., R, B., A, B., S, B., T, B. D. V., AE, B., L, B., O, B., TA, B., E, B., RC, D., N, D., FG, D., V, D. G., J, D., D, D., G, D. A. H., D, E., M, E., E, F., F, F., J, G., N, H., J, H., B, H., D, H., DA, K., D, L., V, L., JH, L., I, M., C, M., F, M., MC, N., I, O., B, P., B, P., MP, R., D, R., V, S., C, S., D, T., G, V., K, V. H., M, T. V., J, V., E, W., A, W., CJ, W., A, Z., C, Z., SM, Z., S, O., AL, V., S, H., & YJ, C. (2020). Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.. Human mutation. https://doi.org/10.1002/humu.23975

Source records

pubmed · retrieved 2026-09-26T14:04:25.030Z