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

Results by year

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

Year Number of Results
1980 1
1981 1
1986 1
1987 1
1990 2
1992 3
1993 3
1994 5
1995 5
1996 5
1997 6
1998 9
1999 11
2000 10
2001 9
2002 19
2003 7
2004 2
2005 8
2006 7
2007 11
2008 9
2009 11
2010 15
2011 14
2012 11
2013 13
2014 13
2015 10
2016 12
2017 10
2018 13
2019 14
2020 20
2021 13
2022 14
2023 15
2024 8

Text availability

Article attribute

Article type

Publication date

Search Results

309 results

Results by year

Filters applied: . Clear all
Page 1
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.
Usmani MA, Ahmed ZM, Magini P, Pienkowski VM, Rasmussen KJ, Hernan R, Rasheed F, Hussain M, Shahzad M, Lanpher BC, Niu Z, Lim FY, Pippucci T, Ploski R, Kraus V, Matuszewska K, Palombo F, Kianmahd J; UCLA Clinical Genomics Center; Martinez-Agosto JA, Lee H, Colao E, Motazacker MM, Brigatti KW, Puffenberger EG, Riazuddin SA, Gonzaga-Jauregui C, Chung WK, Wagner M, Schultz MJ, Seri M, Kievit AJA, Perrotti N, Wassink-Ruiter JSK, van Bokhoven H, Riazuddin S, Riazuddin S. Usmani MA, et al. Among authors: seri m. Am J Hum Genet. 2021 Jul 1;108(7):1330-1341. doi: 10.1016/j.ajhg.2021.05.007. Epub 2021 Jun 7. Am J Hum Genet. 2021. PMID: 34102099 Free PMC article.
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.
Matuozzo D, Talouarn E, Marchal A, Zhang P, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Abou Tayoun A, Aiuti A, Alavi Darazam I, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaïbi K, Colobran R, Condino-Neto A, Covill LE, Delmonte OM, El Zein L, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarström L, Hatipoğlu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Metin Akcan O, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarström Q, de Diego RP, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Rivière JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schlüter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Alosaimi MF, Alsohime FM, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogensen TH, v… See abstract for full author list ➔ Matuozzo D, et al. Genome Med. 2023 Apr 5;15(1):22. doi: 10.1186/s13073-023-01173-8. Genome Med. 2023. PMID: 37020259 Free PMC article.
Exploration of Tools for the Interpretation of Human Non-Coding Variants.
Tabarini N, Biagi E, Uva P, Iovino E, Pippucci T, Seri M, Cavalli A, Ceccherini I, Rusmini M, Viti F. Tabarini N, et al. Among authors: seri m. Int J Mol Sci. 2022 Oct 26;23(21):12977. doi: 10.3390/ijms232112977. Int J Mol Sci. 2022. PMID: 36361767 Free PMC article. Review.
Correlations Between Cardiac Magnetic Resonance and Myocardial Histologic Findings in Fabry Disease.
Ditaranto R, Leone O, Lovato L, Niro F, Cenacchi G, Papa V, Baldovini C, Ferracin M, Salamon I, Kurdi H, Parisi V, Capelli I, Pession A, Liguori R, Potena L, Seri M, Martin Suarez S, Galiè N, Moon JC, Biagini E. Ditaranto R, et al. Among authors: seri m. JACC Cardiovasc Imaging. 2023 Dec;16(12):1629-1632. doi: 10.1016/j.jcmg.2023.06.011. Epub 2023 Aug 2. JACC Cardiovasc Imaging. 2023. PMID: 37542504 No abstract available.
Genetics of human enteric neuropathies.
Panza E, Knowles CH, Graziano C, Thapar N, Burns AJ, Seri M, Stanghellini V, De Giorgio R. Panza E, et al. Among authors: seri m. Prog Neurobiol. 2012 Feb;96(2):176-89. doi: 10.1016/j.pneurobio.2012.01.001. Epub 2012 Jan 14. Prog Neurobiol. 2012. PMID: 22266104 Review.
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability.
Bogaert E, Garde A, Gautier T, Rooney K, Duffourd Y, LeBlanc P, van Reempts E, Tran Mau-Them F, Wentzensen IM, Au KS, Richardson K, Northrup H, Gatinois V, Geneviève D, Louie RJ, Lyons MJ, Laulund LW, Brasch-Andersen C, Maxel Juul T, El It F, Marle N, Callier P, Relator R, Haghshenas S, McConkey H, Kerkhof J, Cesario C, Novelli A, Brunetti-Pierri N, Pinelli M, Pennamen P, Naudion S, Legendre M, Courdier C, Trimouille A, Fenzy MD, Pais L, Yeung A, Nugent K, Roeder ER, Mitani T, Posey JE, Calame D, Yonath H, Rosenfeld JA, Musante L, Faletra F, Montanari F, Sartor G, Vancini A, Seri M, Besmond C, Poirier K, Hubert L, Hemelsoet D, Munnich A, Lupski JR, Philippe C, Thauvin-Robinet C, Faivre L, Sadikovic B, Govin J, Dermaut B, Vitobello A. Bogaert E, et al. Among authors: seri m. Am J Hum Genet. 2023 May 4;110(5):790-808. doi: 10.1016/j.ajhg.2023.03.016. Epub 2023 Apr 17. Am J Hum Genet. 2023. PMID: 37071997 Free PMC article.
309 results