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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1979 1
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1999 1
2000 1
2004 1
2007 1
2009 1
2011 1
2012 1
2013 1
2014 4
2015 1
2018 2
2020 1
2021 5
2022 4
2023 2
2024 2
2025 1

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29 results

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Page 1
Mapping the human genetic architecture of COVID-19.
COVID-19 Host Genetics Initiative. COVID-19 Host Genetics Initiative. Nature. 2021 Dec;600(7889):472-477. doi: 10.1038/s41586-021-03767-x. Epub 2021 Jul 8. Nature. 2021. PMID: 34237774 Free PMC article.
Genomic Testing in Adults With Undiagnosed Rare Conditions: Improvement of Diagnosis Using Clinical Exome Sequencing as a First-Tier Approach.
Petillo R, De Maggio I, Piscopo C, Chetta M, Tarsitano M, Chiriatti L, Sannino E, Torre S, D'Antonio M, D'Ambrosio P, Rambaldi M, Cioce M, De Stefano V, Parisi MR, Telese A, Oro M, Rivieccio M, Radio FC, Mancini C, Niceta M, Cordeddu V, Bruselles A, Mammì C, Dattola A, Fioretti T, Esposito G, Novelli A, Tessitore A, Tessa A, Santorelli FM, Iolascon A, Monica MD, Tartaglia M, Priolo M. Petillo R, et al. Among authors: monica md. Clin Genet. 2025 Aug;108(2):115-123. doi: 10.1111/cge.14715. Epub 2025 Feb 1. Clin Genet. 2025. PMID: 39891531
Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.
Di Candia F, Fontana P, Paglia P, Falco M, Rosano C, Piscopo C, Cappuccio G, Siano MA, De Brasi D, Mandato C, De Maggio I, Squeo GM, Monica MD, Scarano G, Lonardo F, Strisciuglio P, Merla G, Melis D. Di Candia F, et al. Among authors: monica md. Eur J Pediatr. 2022 Jan;181(1):171-187. doi: 10.1007/s00431-021-04108-w. Epub 2021 Jul 7. Eur J Pediatr. 2022. PMID: 34232366 Free PMC article. Review.
Small 4p16.3 deletions: Three additional patients and review of the literature.
Bernardini L, Radio FC, Acquaviva F, Gorgone C, Postorivo D, Torres B, Alesi V, Magliozzi M, Lonardo F, Monica MD, Nardone AM, Cesario C, Mattina T, Scarano G, Dallapiccola B, Digilio MC, Novelli A. Bernardini L, et al. Among authors: monica md. Am J Med Genet A. 2018 Nov;176(11):2501-2508. doi: 10.1002/ajmg.a.40512. Epub 2018 Sep 23. Am J Med Genet A. 2018. PMID: 30244530 Review.
Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.
Ritelli M, Chiarelli N, Dordoni C, Reffo E, Venturini M, Quinzani S, Monica MD, Scarano G, Santoro G, Russo MG, Calzavara-Pinton P, Milanesi O, Colombi M. Ritelli M, et al. Among authors: monica md. BMC Med Genet. 2014 Nov 6;15:122. doi: 10.1186/s12881-014-0122-5. BMC Med Genet. 2014. PMID: 25373504 Free PMC article. Review.
Clinical, cytogenetic and molecular-cytogenetic characterization of a patient with a de novo tandem proximal-intermediate duplication of 16q and review of the literature.
Lonardo F, Perone L, Maioli M, Ciavarella M, Ciccone R, Monica MD, Lombardi C, Forino L, Cantalupo G, Masella L, Scarano F. Lonardo F, et al. Among authors: monica md. Am J Med Genet A. 2011 Apr;155A(4):769-77. doi: 10.1002/ajmg.a.33852. Epub 2011 Mar 17. Am J Med Genet A. 2011. PMID: 21416588 Review.
29 results