Digilio, Maria C.

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., Cordeddu, V., Lepri, F., et al. (2009) · Human Mutation

Protein Tyrosine PhosphatasesGenomics and Rare Diseases

Cited by 303

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype

Martinelli, S., De Luca, A., Stellacci, E., Rossi, C., Checquolo, S., Lepri, F., Caputo, V., Silvano, M., Buscherini, F., Consoli, F., et al. (2010) · The American Journal of Human Genetics

Protein Tyrosine PhosphatasesGenomics and Rare Diseases

Cited by 259

Genetic Syndromes and Outcome After Surgical Correction of Tetralogy of Fallot

Michielon, G., Marino, B., Formigari, R., Gargiulo, G., Picchio, F., Digilio, M. C., Anaclerio, S., Oricchio, G., Sanders, S. P., & Di Donato, R. M. (2006) · The Annals of Thoracic Surgery

Congenital Heart Disease StudiesCongenital heart defects research

Cited by 119

Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions

Howald, C., Merla, G., Digilio, M. C., Amenta, S., Lyle, R., Deutsch, S., Choudhury, U., Bottani, A., Antonarakis, S. E., Fryssira, H., et al. (2006) · Journal of Medical Genetics

Williams Syndrome ResearchGenomic variations and chromosomal abnormalities

Cited by 72

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium

Caparrós-Martín, J. A., De Luca, A., Cartault, F., Aglan, M., Temtamy, S., Otaify, G. A., Mehrez, M., Valencia, M., Vázquez, L., Alessandri, J.-L., et al. (2015) · Human Molecular Genetics

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 57

Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects

Beecroft, S. J., Ayala, M., McGillivray, G., Nanda, V., Agolini, E., Novelli, A., Digilio, M. C., Dotta, A., Carrozzo, R., Clayton, J., et al. (2021) · Human Mutation

Genomics and Rare DiseasesCongenital heart defects research

Cited by 25