Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
- DOI
- 10.1038/s41431-023-01474-x
- Published
- 2024 Feb
- Container
- European journal of human genetics : EJHG
- Publisher
- Not recorded
- Open access
- yes
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BibTeX
@article{allodium:10.1038/s41431-023-01474-x,
title = {Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.},
author = {Husson T and Lecoquierre F and Nicolas G and Richard AC and Afenjar A and Audebert-Bellanger S and Badens C and Bilan F and Bizaoui V and Boland A and Bonnet-Dupeyron MN and Brischoux-Boucher E and Bonnet C and Bournez M and Boute O and Brunelle P and Caumes R and Charles P and Chassaing N and Chatron N and Cogné B and Colin E and Cormier-Daire V and Dard R and Dauriat B and Delanne J and Deleuze JF and Demurger F and Denommé-Pichon AS and Depienne C and Dieux A and Dubourg C and Edery P and El Chehadeh S and Faivre L and Fergelot P and Fradin M and Garde A and Geneviève D and Gilbert-Dussardier B and Goizet C and Goldenberg A and Gouy E and Guerrot AM and Guimier A and Harzalla I and Héron D and Isidor B and Lacombe D and Le Guillou Horn X and Keren B and Kuechler A and Lacaze E and Lavillaureix A and Lehalle D and Lesca G and Lespinasse J and Levy J and Lyonnet S and Morel G and Jean-Marçais N and Marlin S and Marsili L and Mignot C and Nambot S and Nizon M and Olaso R and Pasquier L and Perrin L and Petit F and Pingault V and Piton A and Prieur F and Putoux A and Planes M and Odent S and Quélin C and Quemener-Redon S and Rama M and Rio M and Rossi M and Schaefer E and Rondeau S and Saugier-Veber P and Smol T and Sigaudy S and Touraine R and Mau-Them FT and Trimouille A and Van Gils J and Vanlerberghe C and Vantalon V and Vera G and Vincent M and Ziegler A and Guillin O and Campion D and Charbonnier C},
year = {2024},
journal = {European journal of human genetics : EJHG},
doi = {10.1038/s41431-023-01474-x},
url = {https://doi.org/10.1038/s41431-023-01474-x}
}RIS
TY - JOUR TI - Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders. AU - Husson T AU - Lecoquierre F AU - Nicolas G AU - Richard AC AU - Afenjar A AU - Audebert-Bellanger S AU - Badens C AU - Bilan F AU - Bizaoui V AU - Boland A AU - Bonnet-Dupeyron MN AU - Brischoux-Boucher E AU - Bonnet C AU - Bournez M AU - Boute O AU - Brunelle P AU - Caumes R AU - Charles P AU - Chassaing N AU - Chatron N AU - Cogné B AU - Colin E AU - Cormier-Daire V AU - Dard R AU - Dauriat B AU - Delanne J AU - Deleuze JF AU - Demurger F AU - Denommé-Pichon AS AU - Depienne C AU - Dieux A AU - Dubourg C AU - Edery P AU - El Chehadeh S AU - Faivre L AU - Fergelot P AU - Fradin M AU - Garde A AU - Geneviève D AU - Gilbert-Dussardier B AU - Goizet C AU - Goldenberg A AU - Gouy E AU - Guerrot AM AU - Guimier A AU - Harzalla I AU - Héron D AU - Isidor B AU - Lacombe D AU - Le Guillou Horn X AU - Keren B AU - Kuechler A AU - Lacaze E AU - Lavillaureix A AU - Lehalle D AU - Lesca G AU - Lespinasse J AU - Levy J AU - Lyonnet S AU - Morel G AU - Jean-Marçais N AU - Marlin S AU - Marsili L AU - Mignot C AU - Nambot S AU - Nizon M AU - Olaso R AU - Pasquier L AU - Perrin L AU - Petit F AU - Pingault V AU - Piton A AU - Prieur F AU - Putoux A AU - Planes M AU - Odent S AU - Quélin C AU - Quemener-Redon S AU - Rama M AU - Rio M AU - Rossi M AU - Schaefer E AU - Rondeau S AU - Saugier-Veber P AU - Smol T AU - Sigaudy S AU - Touraine R AU - Mau-Them FT AU - Trimouille A AU - Van Gils J AU - Vanlerberghe C AU - Vantalon V AU - Vera G AU - Vincent M AU - Ziegler A AU - Guillin O AU - Campion D AU - Charbonnier C PY - 2024 JO - European journal of human genetics : EJHG DO - 10.1038/s41431-023-01474-x UR - https://doi.org/10.1038/s41431-023-01474-x ER -
APA
T, H., F, L., G, N., AC, R., A, A., S, A., C, B., F, B., V, B., A, B., MN, B., E, B., C, B., M, B., O, B., P, B., R, C., P, C., N, C., N, C., B, C., E, C., V, C., R, D., B, D., J, D., JF, D., F, D., AS, D., C, D., A, D., C, D., P, E., S, E. C., L, F., P, F., M, F., A, G., D, G., B, G., C, G., A, G., E, G., AM, G., A, G., I, H., D, H., B, I., D, L., X, L. G. H., B, K., A, K., E, L., A, L., D, L., G, L., J, L., J, L., S, L., G, M., N, J., S, M., L, M., C, M., S, N., M, N., R, O., L, P., L, P., F, P., V, P., A, P., F, P., A, P., M, P., S, O., C, Q., S, Q., M, R., M, R., M, R., E, S., S, R., P, S., T, S., S, S., R, T., FT, M., A, T., J, V. G., C, V., V, V., G, V., M, V., A, Z., O, G., D, C., & C, C. (2024). Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.. European journal of human genetics : EJHG. https://doi.org/10.1038/s41431-023-01474-x
Source records
- pubmed · retrieved 2026-09-27T11:28:10.608Z