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Year Number of Results
1979 1
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1981 1
1985 2
1987 1
1988 2
1989 1
1991 2
1994 1
1995 2
1996 4
1997 1
1999 1
2001 1
2003 1
2004 2
2005 2
2006 1
2007 4
2008 3
2009 3
2010 3
2011 2
2012 3
2013 3
2014 3
2015 1
2016 2
2017 6
2018 6
2019 8
2020 5
2021 7
2022 2
2023 6
2024 4
2025 4

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85 results

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Page 1
Jacobsen syndrome.
Mattina T, Perrotta CS, Grossfeld P. Mattina T, et al. Orphanet J Rare Dis. 2009 Mar 7;4:9. doi: 10.1186/1750-1172-4-9. Orphanet J Rare Dis. 2009. PMID: 19267933 Free PMC article. Review.
Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Jensen M, Smolen C, Tyryshkina A, Pizzo L, Banerjee D, Oetjens M, Shimelis H, Taylor CM, Pounraja VK, Song H, Rohan L, Huber E, El Khattabi L, van de Laar I, Tadros R, Bezzina C, van Slegtenhorst M, Kammeraad J, Prontera P, Caberg JH, Fraser H, Banka S, Van Dijck A, Schwartz C, Voorhoeve E, Callier P, Mosca-Boidron AL, Marle N, Lefebvre M, Pope K, Snell P, Boys A, Lockhart PJ, Ashfaq M, McCready E, Nowacyzk M, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Bruccheri MG, Mandarà GML, Mari F, Privitera F, Longo I, Curró A, Renieri A, Keren B, Charles P, Cuinat S, Nizon M, Pichon O, Bénéteau C, Stoeva R, Martin-Coignard D, Blesson S, Le Caignec C, Mercier S, Vincent M, Martin C, Mannik K, Reymond A, Faivre L, Sistermans E, Kooy RF, Amor DJ, Romano C, Andrieux J, Girirajan S. Jensen M, et al. Among authors: mattina t. medRxiv [Preprint]. 2024 Aug 28:2024.08.27.24312158. doi: 10.1101/2024.08.27.24312158. medRxiv. 2024. Update in: Cell. 2025 Oct 7:S0092-8674(25)01080-3. doi: 10.1016/j.cell.2025.09.012. PMID: 39252907 Free PMC article. Updated. Preprint.
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling.
Morleo M, Venditti R, Theodorou E, Briere LC, Rosello M, Tirozzi A, Tammaro R, Al-Badri N, High FA, Shi J; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Putti E, Ferrante L, Cetrangolo V, Torella A, Walker MA, Tenconi R, Iascone M, Mei D, Guerrini R, van der Smagt J, Kroes HY, van Gassen KLI, Bilal M, Umair M, Pingault V, Attie-Bitach T, Amiel J, Ejaz R, Rodan L, Zollino M, Agrawal PB, Del Bene F, Nigro V, Sweetser DA, Franco B. Morleo M, et al. Am J Hum Genet. 2023 Aug 3;110(8):1377-1393. doi: 10.1016/j.ajhg.2023.06.012. Epub 2023 Jul 13. Am J Hum Genet. 2023. PMID: 37451268 Free PMC article.
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome.
Di Letto P, Budillon A, Rahman SI, Del Vecchio Blanco F, Zanobio M, Scarpato M, Russo M, Onore ME, Piluso G; TUDP Study Group; Nigro V, Scarano G, Torella A. Di Letto P, et al. Am J Med Genet A. 2025 Jul;197(7):e64039. doi: 10.1002/ajmg.a.64039. Epub 2025 Mar 10. Am J Med Genet A. 2025. PMID: 40062685
Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association.
Pelleri MC, Locatelli C, Mattina T, Bonaglia MC, Piazza F, Magini P, Antonaros F, Ramacieri G, Vione B, Vitale L, Seri M, Strippoli P, Cocchi G, Piovesan A, Caracausi M. Pelleri MC, et al. Among authors: mattina t. BMC Med Genomics. 2022 Dec 21;15(1):266. doi: 10.1186/s12920-022-01422-6. BMC Med Genomics. 2022. PMID: 36544206 Free PMC article.
Antley-Bixler syndrome.
Mattina T, Pierluigi M, Perfumo C, Mazzone D, Scardilli S, Mollica F. Mattina T, et al. Clin Genet. 1996 Oct;50(4):277. doi: 10.1111/j.1399-0004.1996.tb02646.x. Clin Genet. 1996. PMID: 9001819 No abstract available.
Genetic modifiers and ascertainment drive variable expressivity of complex disorders.
Jensen M, Smolen C, Tyryshkina A, Pizzo L, Sun J, Noss S, Banerjee D, Oetjens M, Shimelis H, Taylor CM, Pounraja VK, Song H, Rohan L, Huber E, El Khattabi L, van de Laar I, Tadros R, Bezzina CR, van Slegtenhorst M, Kammeraad J, Prontera P, Caberg JH, Fraser H, Banka S, Van Dijck A, Schwartz C, Voorhoeve E, Callier P, Mosca-Boidron AL, Marle N, Lefebvre M, Pope K, Snell P, Boys A, Lockhart PJ, Ashfaq M, McCready E, Nowacyzk M, Castiglia L, Galesi O, Avola E, Mattina T, Fichera M, Bruccheri MG, Mandarà GML, Mari F, Privitera F, Longo I, Curró A, Renieri A, Keren B, Charles P, Cuinat S, Nizon M, Pichon O, Bénéteau C, Stoeva R, Martin-Coignard D, Blesson S, Le Caignec C, Mercier S, Vincent M, Martin CL, Mannik K, Reymond A, Faivre L, Sistermans E, Kooy RF, Amor DJ, Romano C, Andrieux J, Girirajan S. Jensen M, et al. Among authors: mattina t. Cell. 2025 Oct 7:S0092-8674(25)01080-3. doi: 10.1016/j.cell.2025.09.012. Online ahead of print. Cell. 2025. PMID: 41061703 Free article.
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery.
Danis D, Bamshad MJ, Bridges Y, Caballero-Oteyza A, Cacheiro P, Carmody LC, Chimirri L, Chong JX, Coleman B, Dalgleish R, Freeman PJ, Graefe ASL, Groza T, Hansen P, Jacobsen JOB, Klocperk A, Kusters M, Ladewig MS, Marcello AJ, Mattina T, Mungall CJ, Munoz-Torres MC, Reese JT, Rehburg F, Reis BCS, Schuetz C, Smedley D, Strauss T, Sundaramurthi JC, Thun S, Wissink K, Wagstaff JF, Zocche D, Haendel MA, Robinson PN. Danis D, et al. Among authors: mattina t. HGG Adv. 2025 Jan 9;6(1):100371. doi: 10.1016/j.xhgg.2024.100371. Epub 2024 Oct 10. HGG Adv. 2025. PMID: 39394689 Free PMC article.
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: mattina t. 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.
A Missense Variant Affecting the N-Terminal Domain of the Laminin-332 β3 Chain Results in a Distinct Form of Junctional Epidermolysis Bullosa With Altered Granulation Tissue Response and No New Blistering: A Second Family Report.
Goldoni M, Torres B, Pettinato M, Gennaro A, Biagini T, Condorelli AG, Monetta R, Mazza T, Bernardini L, Mattina T. Goldoni M, et al. Among authors: mattina t. Pediatr Dermatol. 2025 Mar-Apr;42(2):410-412. doi: 10.1111/pde.15764. Epub 2024 Oct 23. Pediatr Dermatol. 2025. PMID: 39443834 Free PMC article.
85 results