Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.

Smolen C, Jensen M, Dyer L, Pizzo L, Tyryshkina A, Banerjee D, Rohan L, Huber E, El Khattabi L, Prontera P, Caberg JH, Van Dijck A, Schwartz C, Faivre L, Callier P, Mosca-Boidron AL, Lefebvre M, Pope K, Snell P, Lockhart PJ, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Luana Mandarà GM, Bruccheri MG, Pichon O, Le Caignec C, Stoeva R, Cuinat S, Mercier S, Bénéteau C, Blesson S, Nordsletten A, Martin-Coignard D, Sistermans E, Kooy RF, Amor DJ, Romano C, Isidor B, Juusola J, Girirajan S.

Open source

DOI
10.1016/j.ajhg.2023.10.015
Published
2023-11-17
Container
Am J Hum Genet
Publisher
Not recorded
Open access
no

Credibility signals

limited evidence Score 43/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

Cite this work

BibTeX

@article{allodium:10.1016/j.ajhg.2023.10.015,
  title = {Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.},
  author = {Smolen C and  Jensen M and  Dyer L and  Pizzo L and  Tyryshkina A and  Banerjee D and  Rohan L and  Huber E and  El Khattabi L and  Prontera P and  Caberg JH and  Van Dijck A and  Schwartz C and  Faivre L and  Callier P and  Mosca-Boidron AL and  Lefebvre M and  Pope K and  Snell P and  Lockhart PJ and  Castiglia L and  Galesi O and  Avola E and  Mattina T and  Fichera M and  Luana Mandarà GM and  Bruccheri MG and  Pichon O and  Le Caignec C and  Stoeva R and  Cuinat S and  Mercier S and  Bénéteau C and  Blesson S and  Nordsletten A and  Martin-Coignard D and  Sistermans E and  Kooy RF and  Amor DJ and  Romano C and  Isidor B and  Juusola J and  Girirajan S.},
  year = {2023},
  journal = {Am J Hum Genet},
  doi = {10.1016/j.ajhg.2023.10.015},
  url = {https://doi.org/10.1016/j.ajhg.2023.10.015}
}

RIS

TY  - JOUR
TI  - Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
AU  - Smolen C
AU  -  Jensen M
AU  -  Dyer L
AU  -  Pizzo L
AU  -  Tyryshkina A
AU  -  Banerjee D
AU  -  Rohan L
AU  -  Huber E
AU  -  El Khattabi L
AU  -  Prontera P
AU  -  Caberg JH
AU  -  Van Dijck A
AU  -  Schwartz C
AU  -  Faivre L
AU  -  Callier P
AU  -  Mosca-Boidron AL
AU  -  Lefebvre M
AU  -  Pope K
AU  -  Snell P
AU  -  Lockhart PJ
AU  -  Castiglia L
AU  -  Galesi O
AU  -  Avola E
AU  -  Mattina T
AU  -  Fichera M
AU  -  Luana Mandarà GM
AU  -  Bruccheri MG
AU  -  Pichon O
AU  -  Le Caignec C
AU  -  Stoeva R
AU  -  Cuinat S
AU  -  Mercier S
AU  -  Bénéteau C
AU  -  Blesson S
AU  -  Nordsletten A
AU  -  Martin-Coignard D
AU  -  Sistermans E
AU  -  Kooy RF
AU  -  Amor DJ
AU  -  Romano C
AU  -  Isidor B
AU  -  Juusola J
AU  -  Girirajan S.
PY  - 2023
JO  - Am J Hum Genet
DO  - 10.1016/j.ajhg.2023.10.015
UR  - https://doi.org/10.1016/j.ajhg.2023.10.015
ER  - 

APA

C, S., M, J., L, D., L, P., A, T., D, B., L, R., E, H., L, E. K., P, P., JH, C., A, V. D., C, S., L, F., P, C., AL, M., M, L., K, P., P, S., PJ, L., L, C., O, G., E, A., T, M., M, F., GM, L. M., MG, B., O, P., C, L. C., R, S., S, C., S, M., C, B., S, B., A, N., D, M., E, S., RF, K., DJ, A., C, R., B, I., J, J., & S., G. (2023). Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.. Am J Hum Genet. https://doi.org/10.1016/j.ajhg.2023.10.015

Source records