Ayuso, Carmen

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

Amati-Bonneau, P., Valentino, M. L., Reynier, P., Gallardo, M. E., Bornstein, B., Boissiere, A., Campos, Y., Rivera, H., de la Aleja, J. G., Carroccia, R., et al. (2008) · Brain

Mitochondrial Function and PathologyHereditary Neurological Disorders

Cited by 520

GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

Pairo-Castineira, E., Rawlik, K., Bretherick, A. D., Qi, T., Wu, Y., Nassiri, I., McConkey, G. A., Zechner, M., Klaric, L., Griffiths, F., et al. (2023) · Nature

Genetic Associations and EpidemiologyCOVID-19 Clinical Research Studies

Cited by 225

MYO7A mutation screening in Usher syndrome type I patients from diverse origins

Jaijo, T., Aller, E., Beneyto, M., Najera, C., Graziano, C., Turchetti, D., Seri, M., Ayuso, C., Baiget, M., Moreno, F., et al. (2007) · Journal of Medical Genetics

Retinal Development and DisordersHearing, Cochlea, Tinnitus, Genetics

Cited by 70

Retinal Structure in RPE65-Associated Retinal Dystrophy

Kumaran, N., Georgiou, M., Bainbridge, J. W. B., Bertelsen, M., Larsen, M., Blanco-Kelly, F., Ayuso, C., Tran, H. V., Munier, F. L., Kalitzeos, A., et al. (2020) · Investigative Opthalmology & Visual Science

Retinal Development and DisordersRetinal Diseases and Treatments

Cited by 44

New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11

Xie, Y. (., Lee, W., Cai, C., Gambin, T., Nõupuu, K., Sujirakul, T., Ayuso, C., Jhangiani, S., Muzny, D., Boerwinkle, E., et al. (2014) · Human Molecular Genetics

Retinal Development and DisordersRetinoids in leukemia and cellular processes

Cited by 40

Pharmacogenetics of methylphenidate in childhood attention-deficit/hyperactivity disorder: long-term effects

Gomez-Sanchez, C. I., Carballo, J. J., Riveiro-Alvarez, R., Soto-Insuga, V., Rodrigo, M., Mahillo-Fernandez, I., Abad-Santos, F., Dal-Ré, R., & Ayuso, C. (2017) · Scientific Reports

Attention Deficit Hyperactivity DisorderNeurotransmitter Receptor Influence on Behavior

Cited by 24

For how long and with what relevance do genetics articles retracted due to research misconduct remain active in the scientific literature

Dal-Ré, R., & Ayuso, C. (2021) · Accountability in Research

Academic integrity and plagiarismAcademic Publishing and Open Access

Cited by 21