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582 results

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Page 1
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
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
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.
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.
Fetal DNA in maternal serum: does it persist after pregnancy?
Benachi A, Steffann J, Gautier E, Ernault P, Olivi M, Dumez Y, Costa JM. Benachi A, et al. Among authors: costa jm. Hum Genet. 2003 Jul;113(1):76-9. doi: 10.1007/s00439-003-0931-7. Epub 2003 Mar 15. Hum Genet. 2003. PMID: 12640544
Correlation Between Pneumocystis jirovecii Mitochondrial Genotypes and High and Low Fungal Loads Assessed by Single Nucleotide Primer Extension Assay and Quantitative Real-Time PCR.
Alanio A, Olivi M, Cabaret O, Foulet F, Bellanger AP, Millon L, Berceanu A, Cordonnier C, Costa JM, Bretagne S. Alanio A, et al. Among authors: costa jm. J Eukaryot Microbiol. 2015 Sep-Oct;62(5):650-6. doi: 10.1111/jeu.12222. Epub 2015 May 27. J Eukaryot Microbiol. 2015. PMID: 25940946
Cell-free DNA analysis in maternal plasma in cases of fetal abnormalities detected on ultrasound examination.
Benachi A, Letourneau A, Kleinfinger P, Senat MV, Gautier E, Favre R, Bidat L, Houfflin-Debarge V, Bouyer J, Costa JM; Collaborative SEquençage a Haut Debit et Aneuploidies (SEHDA) Study Group. Benachi A, et al. Among authors: costa jm. Obstet Gynecol. 2015 Jun;125(6):1330-1337. doi: 10.1097/AOG.0000000000000874. Obstet Gynecol. 2015. PMID: 26000504 Clinical Trial.
582 results