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

Year Number of Results
2002 5
2003 6
2004 6
2005 11
2006 4
2007 5
2008 2
2010 6
2011 8
2012 5
2013 1
2014 4
2015 6
2016 4
2017 2
2018 7
2019 5
2020 2
2021 1
2022 4
2023 3
2024 2

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88 results

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Page 1
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome.
Mochel F, Gras D, Luton MP, Nizou M, Giovannini D, Delattre C, Aubart M, Barth M, De Saint-Martin A, Doummar D, Essid N, Garros A, Le Camus CH, Hoebeke C, The Tich SN, Perivier M, Rivera S, Rolland A, Roubertie A, Sarret C, Sevin C, Ville D, Sitbon M, Costa JM, Pons R, Garcia-Cazorla A, Vuillaumier S, Petit V, Boespflug-Tanguy O, De Vivo DC; MetaGlut1 Study Group. Mochel F, et al. Among authors: costa jm. Neurology. 2023 Jun 6;100(23):e2360-e2373. doi: 10.1212/WNL.0000000000207296. Epub 2023 Apr 19. Neurology. 2023. PMID: 37076312 Free PMC article.
Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.
Yauy K, Lecoquierre F, Baert-Desurmont S, Trost D, Boughalem A, Luscan A, Costa JM, Geromel V, Raymond L, Richard P, Coutant S, Broutin M, Lanos R, Fort Q, Cackowski S, Testard Q, Diallo A, Soirat N, Holder JM, Duforet-Frebourg N, Bouge AL, Beaumeunier S, Bertrand D, Audoux J, Genevieve D, Mesnard L, Nicolas G, Thevenon J, Philippe N. Yauy K, et al. Among authors: costa jm. Genet Med. 2022 Jun;24(6):1316-1327. doi: 10.1016/j.gim.2022.02.008. Epub 2022 Mar 17. Genet Med. 2022. PMID: 35311657 Free article.
Noninvasive Prenatal Screening for Trisomy 21 in Patients with a Vanishing Twin.
Kleinfinger P, Luscan A, Descourvieres L, Buzas D, Boughalem A, Serero S, Valduga M, Trost D, Costa JM, Vivanti AJ, Lohmann L. Kleinfinger P, et al. Among authors: costa jm. Genes (Basel). 2022 Nov 3;13(11):2027. doi: 10.3390/genes13112027. Genes (Basel). 2022. PMID: 36360264 Free PMC article.
Non-invasive prenatal diagnosis of fetal aneuploidies.
Benachi A, Costa JM. Benachi A, et al. Among authors: costa jm. Lancet. 2007 Feb 10;369(9560):440-2. doi: 10.1016/S0140-6736(07)60116-0. Lancet. 2007. PMID: 17292744 No abstract available.
Deciphering exome sequencing data: Bringing mitochondrial DNA variants to light.
Garret P, Bris C, Procaccio V, Amati-Bonneau P, Vabres P, Houcinat N, Tisserant E, Feillet F, Bruel AL, Quéré V, Philippe C, Sorlin A, Tran Mau-Them F, Vitobello A, Costa JM, Boughalem A, Trost D, Faivre L, Thauvin-Robinet C, Duffourd Y. Garret P, et al. Among authors: costa jm. Hum Mutat. 2019 Dec;40(12):2430-2443. doi: 10.1002/humu.23885. Epub 2019 Aug 26. Hum Mutat. 2019. PMID: 31379041
A NGS-based Blood Test For the Diagnosis of Invasive HPV-associated Carcinomas with Extensive Viral Genomic Characterization.
Sastre-Garau X, Diop M, Martin F, Dolivet G, Marchal F, Charra-Brunaud C, Peiffert D, Leufflen L, Dembélé B, Demange J, Tosti P, Thomas J, Leroux A, Merlin JL, Diop-Ndiaye H, Costa JM, Salleron J, Harlé A. Sastre-Garau X, et al. Among authors: costa jm. Clin Cancer Res. 2021 Oct 1;27(19):5307-5316. doi: 10.1158/1078-0432.CCR-21-0293. Clin Cancer Res. 2021. PMID: 34108183 Free PMC article.
88 results