Carella, Massimo

The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22

Camaschella, C., Roetto, A., Calì, A., De Gobbi, M., Garozzo, G., Carella, M., Majorano, N., Totaro, A., & Gasparini, P. (2000) · Nature Genetics

Iron Metabolism and DisordersNeurological diseases and metabolism

Cited by 803

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

Lionel, A. C., Tammimies, K., Vaags, A. K., Rosenfeld, J. A., Ahn, J. W., Merico, D., Noor, A., Runke, C. K., Pillalamarri, V. K., Carter, M. T., et al. (2014) · Human Molecular Genetics

Genetics and Neurodevelopmental DisordersGenomic variations and chromosomal abnormalities

Cited by 163

7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages

Adamo, A., Atashpaz, S., Germain, P.-L., Zanella, M., D'Agostino, G., Albertin, V., Chenoweth, J., Micale, L., Fusco, C., Unger, C., et al. (2015) · Nature Genetics

Williams Syndrome ResearchPluripotent Stem Cells Research

Cited by 129

APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants

Bianco, S. D., Parca, L., Petrizzelli, F., Biagini, T., Giovannetti, A., Liorni, N., Napoli, A., Carella, M., Procaccio, V., Lott, M., et al. (2023) · Nature Communications

Genomics and Rare DiseasesMitochondrial Function and Pathology

Cited by 44

APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants

Bianco, S. D., Parca, L., Petrizzelli, F., Biagini, T., Giovannetti, A., Liorni, N., Napoli, A., Carella, M., Procaccio, V., Lott, M. T., et al. (2023) · Nature Communications

Genomics and Rare DiseasesMitochondrial Function and Pathology

Cited by 44

Expanding the clinical and molecular Spectrum of PSMD12-related neurodevelopmental syndrome: an additional patient and review

Palumbo, P., Palumbo, O., Di Muro, E., Pia Leone, M., Castellana, S., Biagini, T., Mazza, T., Leotta, V., Carella, M., & Bukvic, N. (2019) · Archives of Clinical and Medical Case Reports

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 5