Dallapiccola, Bruno

Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1

Valente, E. M., Abou-Sleiman, P. M., Caputo, V., Muqit, M. M. K., Harvey, K., Gispert, S., Ali, Z., Del Turco, D., Bentivoglio, A. R., Healy, D. G., et al. (2004) · Science

Parkinson's Disease Mechanisms and TreatmentsNuclear Receptors and Signaling

Cited by 3,481

LDL Receptor-Related Protein 5 (LRP5) Affects Bone Accrual and Eye Development

Gong, Y., Slee, R. B., Fukai, N., Rawadi, G., Roman-Roman, S., Reginato, A. M., Wang, H., Cundy, T., Glorieux, F. H., Lev, D., et al. (2001) · Cell

Bone health and osteoporosis researchBone Metabolism and Diseases

Cited by 2,235

Gut microbiota profiling of pediatric nonalcoholic fatty liver disease and obese patients unveiled by an integrated meta-omics-based approach

Del Chierico, F., Nobili, V., Vernocchi, P., Russo, A., De Stefanis, C., Gnani, D., Furlanello, C., Zandonà, A., Paci, P., Capuani, G., et al. (2017) · Hepatology

Gut microbiota and healthLiver Disease Diagnosis and Treatment

Cited by 696

Transmembrane 6 superfamily member 2 gene variant disentangles nonalcoholic steatohepatitis from cardiovascular disease

Dongiovanni, P., Petta, S., Maglio, C., Fracanzani, A. L., Pipitone, R., Mozzi, E., Motta, B. M., Kaminska, D., Rametta, R., Grimaudo, S., et al. (2015) · Hepatology

Liver Disease Diagnosis and TreatmentLipid metabolism and disorders

Cited by 533

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

Hamdan, F. F., Myers, C. T., Cossette, P., Lemay, P., Spiegelman, D., Laporte, A. D., Nassif, C., Diallo, O., Monlong, J., Cadieux-Dion, M., et al. (2017) · The American Journal of Human Genetics

Epilepsy research and treatmentGenetics and Neurodevelopmental Disorders

Cited by 445

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

The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy

Michiorri, S., Gelmetti, V, Giarda, E., Lombardi, F., Romano, F., Marongiu, R., Nerini-Molteni, S., Sale, P., Vago, R., Arena, G., et al. (2010) · Cell Death & Differentiation

Parkinson's Disease Mechanisms and TreatmentsAutophagy in Disease and Therapy

Cited by 260

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

Copy-Number Variations Involving the IHH Locus Are Associated with Syndactyly and Craniosynostosis

Klopocki, E., Lohan, S., Brancati, F., Koll, R., Brehm, A., Seemann, P., Dathe, K., Stricker, S., Hecht, J., Bosse, K., et al. (2011) · The American Journal of Human Genetics

Congenital limb and hand anomaliesCraniofacial Disorders and Treatments

Cited by 104

Type 2 deiodinase polymorphism (threonine 92 alanine) predicts L-thyroxine dose to achieve target thyrotropin levels in thyroidectomized patients

Torlontano, M., Durante, C., Torrente, I., Crocetti, U., Augello, G., Ronga, G., Montesano, T., Travascio, L., Verrienti, A., Bruno, R., et al. (2008) · The Journal of Clinical Endocrinology & Metabolism

Thyroid Disorders and TreatmentsThyroid Cancer Diagnosis and Treatment

Cited by 92

Interstitial 22q13 deletions: genes other than SHANK3 have major effects on cognitive and language development

Wilson, H. L., Crolla, J. A., Walker, D., Artifoni, L., Dallapiccola, B., Takano, T., Vasudevan, P., Huang, S., Maloney, V., Yobb, T., et al. (2008) · European Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 85

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

Mlynarski, E. E., Sheridan, M. B., Xie, M., Guo, T., Racedo, S. E., McDonald-McGinn, D. M., Gai, X., Chow, E. W. C., Vorstman, J., Swillen, A., et al. (2015) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesCongenital heart defects research

Cited by 74

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

The internet user profile of Italian families of patients with rare diseases: a web survey

Tozzi, A. E., Mingarelli, R., Agricola, E., Gonfiantini, M., Pandolfi, E., Carloni, E., Gesualdo, F., & Dallapiccola, B. (2013) · Orphanet Journal of Rare Diseases

Health Literacy and Information AccessibilitySocial Media in Health Education

Cited by 71

Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment

Nurchis, M. C., Altamura, G., Riccardi, M. T., Radio, F. C., Chillemi, G., Bertini, E. S., Garlasco, J., Tartaglia, M., Dallapiccola, B., & Damiani, G. (2023) · Archives of Public Health

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 65

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

Exome sequencing in a family with intellectual disability, early onset spasticity, and cerebellar atrophy detects a novel mutation in EXOSC3

Zanni, G., Scotton, C., Passarelli, C., Fang, M., Barresi, S., Dallapiccola, B., Wu, B., Gualandi, F., Ferlini, A., Bertini, E., et al. (2013) · neurogenetics

Hereditary Neurological DisordersGenetic Neurodegenerative Diseases

Cited by 41

TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

Bowles, B., Ferrer, A., Nishimura, C. J., Pinto e Vairo, F., Rey, T., Leheup, B., Sullivan, J., Schoch, K., Stong, N., Agolini, E., et al. (2021) · American Journal of Medical Genetics Part A

dental development and anomaliesHearing, Cochlea, Tinnitus, Genetics

Cited by 20