Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

191 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Incremental net benefit of whole genome sequencing for newborns and children with suspected genetic disorders: Systematic review and meta-analysis of cost-effectiveness evidence.
Nurchis MC, Riccardi MT, Radio FC, Chillemi G, Bertini ES, Tartaglia M, Cicchetti A, Dallapiccola B, Damiani G. Nurchis MC, et al. Among authors: chillemi g. Health Policy. 2022 Apr;126(4):337-345. doi: 10.1016/j.healthpol.2022.03.001. Epub 2022 Mar 4. Health Policy. 2022. PMID: 35317923 Review.
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.
Flex E, Niceta M, Cecchetti S, Thiffault I, Au MG, Capuano A, Piermarini E, Ivanova AA, Francis JW, Chillemi G, Chandramouli B, Carpentieri G, Haaxma CA, Ciolfi A, Pizzi S, Douglas GV, Levine K, Sferra A, Dentici ML, Pfundt RR, Le Pichon JB, Farrow E, Baas F, Piemonte F, Dallapiccola B, Graham JM Jr, Saunders CJ, Bertini E, Kahn RA, Koolen DA, Tartaglia M. Flex E, et al. Among authors: chillemi g. Am J Hum Genet. 2016 Oct 6;99(4):962-973. doi: 10.1016/j.ajhg.2016.08.003. Epub 2016 Sep 22. Am J Hum Genet. 2016. PMID: 27666370 Free PMC article.
Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy.
Pode-Shakked B, Barash H, Ziv L, Gripp KW, Flex E, Barel O, Carvalho KS, Scavina M, Chillemi G, Niceta M, Eyal E, Kol N, Ben-Zeev B, Bar-Yosef O, Marek-Yagel D, Bertini E, Duker AL, Anikster Y, Tartaglia M, Raas-Rothschild A. Pode-Shakked B, et al. Among authors: chillemi g. Clin Genet. 2017 May;91(5):725-738. doi: 10.1111/cge.12914. Epub 2016 Dec 16. Clin Genet. 2017. PMID: 27807845
Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy.
Motta M, Giancotti A, Mastromoro G, Chandramouli B, Pinna V, Pantaleoni F, Di Giosaffatte N, Petrini S, Mazza T, D'Ambrosio V, Versacci P, Ventriglia F, Chillemi G, Pizzuti A, Tartaglia M, De Luca A. Motta M, et al. Among authors: chillemi g. Hum Mutat. 2019 Aug;40(8):1046-1056. doi: 10.1002/humu.23767. Epub 2019 May 6. Hum Mutat. 2019. PMID: 31059601
Co-occurring SYNJ1 and SHANK3 variants in a girl with intellectual disability, early-onset parkinsonism and catatonic episodes.
Galosi S, Martinelli S, Pannone L, Terrinoni A, Venditti M, Pizzi S, Ciolfi A, Chillemi G, Gigliotti F, Cesario S, Tartaglia M, Leuzzi V. Galosi S, et al. Among authors: chillemi g. Parkinsonism Relat Disord. 2021 Mar;84:5-7. doi: 10.1016/j.parkreldis.2020.12.022. Epub 2021 Jan 12. Parkinsonism Relat Disord. 2021. PMID: 33515856 No abstract available.
Broadening the phenotypic spectrum of Beta3GalT6-associated phenotypes.
Leoni C, Tedesco M, Radio FC, Chillemi G, Leone A, Bruselles A, Ciolfi A, Stellacci E, Pantaleoni F, Butera G, Rigante D, Onesimo R, Tartaglia M, Zampino G. Leoni C, et al. Among authors: chillemi g. Am J Med Genet A. 2021 Oct;185(10):3153-3160. doi: 10.1002/ajmg.a.62399. Epub 2021 Jun 23. Am J Med Genet A. 2021. PMID: 34159694
Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species.
Carpentieri G, Leoni C, Pietraforte D, Cecchetti S, Iorio E, Belardo A, Pietrucci D, Di Nottia M, Pajalunga D, Megiorni F, Mercurio L, Tatti M, Camero S, Marchese C, Rizza T, Tirelli V, Onesimo R, Carrozzo R, Rinalducci S, Chillemi G, Zampino G, Tartaglia M, Flex E. Carpentieri G, et al. Among authors: chillemi g. Hum Mol Genet. 2022 Feb 21;31(4):561-575. doi: 10.1093/hmg/ddab270. Hum Mol Genet. 2022. PMID: 34508588
Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.
Battaglia DI, Gambardella ML, Veltri S, Contaldo I, Chillemi G, Veredice C, Quintiliani M, Leoni C, Onesimo R, Verdolotti T, Radio FC, Martinelli D, Trivisano M, Specchio N, Dravet C, Tartaglia M, Zampino G. Battaglia DI, et al. Among authors: chillemi g. Genes (Basel). 2021 Aug 26;12(9):1316. doi: 10.3390/genes12091316. Genes (Basel). 2021. PMID: 34573299 Free PMC article.
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
Motta M, Fasano G, Gredy S, Brinkmann J, Bonnard AA, Simsek-Kiper PO, Gulec EY, Essaddam L, Utine GE, Guarnetti Prandi I, Venditti M, Pantaleoni F, Radio FC, Ciolfi A, Petrini S, Consoli F, Vignal C, Hepbasli D, Ullrich M, de Boer E, Vissers LELM, Gritli S, Rossi C, De Luca A, Ben Becher S, Gelb BD, Dallapiccola B, Lauri A, Chillemi G, Schuh K, Cavé H, Zenker M, Tartaglia M. Motta M, et al. Among authors: chillemi g. Am J Hum Genet. 2021 Nov 4;108(11):2112-2129. doi: 10.1016/j.ajhg.2021.09.007. Epub 2021 Oct 8. Am J Hum Genet. 2021. PMID: 34626534 Free PMC article.
191 results