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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 1

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87 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.
A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort.
Garret P, Chevarin M, Vitobello A, Verdez S, Fournier C, Verloes A, Tisserant E, Vabres P, Prevel O, Philippe C, Denommé-Pichon AS, Bruel AL, Mau-Them FT, Safraou H, Boughalem A, Costa JM, Trost D, Thauvin-Robinet C, Faivre L, Duffourd Y. Garret P, et al. Among authors: costa jm. Eur J Hum Genet. 2023 Jul;31(7):761-768. doi: 10.1038/s41431-022-01250-3. Epub 2022 Dec 1. Eur J Hum Genet. 2023. PMID: 36450799
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.
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.
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.
Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies.
Kleinfinger P, Lohmann L, Luscan A, Trost D, Bidat L, Debarge V, Castaigne V, Senat MV, Brechard MP, Guilbaud L, Le Guyader G, Satre V, Laurichesse Delmas H, Lallaoui H, Manca-Pellissier MC, Boughalem A, Valduga M, Hodeib F, Benachi A, Costa JM. Kleinfinger P, et al. Among authors: costa jm. J Clin Med. 2020 Aug 1;9(8):2466. doi: 10.3390/jcm9082466. J Clin Med. 2020. PMID: 32752152 Free PMC article.
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction.
Garret P, Ebstein F, Delplancq G, Dozieres-Puyravel B, Boughalem A, Auvin S, Duffourd Y, Klafack S, Zieba BA, Mahmoudi S, Singh KK, Duplomb L, Thauvin-Robinet C, Costa JM, Krüger E, Trost D, Verloes A, Faivre L, Vitobello A. Garret P, et al. Among authors: costa jm. Clin Genet. 2020 Apr;97(4):567-575. doi: 10.1111/cge.13709. Epub 2020 Feb 11. Clin Genet. 2020. PMID: 31997314
87 results