Graziano, Claudio

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

D'Amore, A., Tessa, A., Casali, C., Dotti, M. T., Filla, A., Silvestri, G., Antenora, A., Astrea, G., Barghigiani, M., Battini, R., et al. (2018) · Frontiers in Neurology

Hereditary Neurological DisordersGenomics and Rare Diseases

Cited by 90

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

PURA- Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

Johannesen, K. M., Gardella, E., Gjerulfsen, C. E., Bayat, A., Rouhl, R. P. W., Reijnders, M., Whalen, S., Keren, B., Buratti, J., Courtin, T., et al. (2021) · Neurology Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 53

De novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations

Dias, K.-R., Carlston, C. M., Blok, L. E. R., De Hayr, L., Nawaz, U., Evans, C.-A., Bayrak-Toydemir, P., Htun, S., Zhu, Y., Ma, A., et al. (2022) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 13

Chromosomal Microarray Analysis Identifies a Novel SALL1 Deletion, Supporting the Association of Haploinsufficiency with a Mild Phenotype of Townes–Brocks Syndrome

Innoceta, A. M., Olivucci, G., Parmeggiani, G., Scarano, E., Pragliola, A., & Graziano, C. (2023) · Genes

Genomic variations and chromosomal abnormalitiesGenomics and Rare Diseases

Cited by 7