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Strategy for Use of Genome-Wide Non-Invasive Prenatal Testing for Rare Autosomal Aneuploidies and Unbalanced Structural Chromosomal Anomalies.
J Clin Med. 2020 Aug 1;9(8):2466. doi: 10.3390/jcm9082466.
J Clin Med. 2020.
PMID: 32752152
Free PMC article.
Case Report: How whole-genome sequencing-based cell-free DNA prenatal testing can help identify a marker mhromosome.
Kleinfinger P, Brechard M, Luscan A, Trost D, Boughalem A, Mylene Valduga, Serero Dr S, Costa JM, Lohmann L.
Kleinfinger P, et al. Among authors: boughalem a.
Front Genet. 2022 Sep 26;13:926290. doi: 10.3389/fgene.2022.926290. eCollection 2022.
Front Genet. 2022.
PMID: 36226188
Free PMC article.
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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: boughalem a.
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.
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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: boughalem a.
Clin Genet. 2020 Apr;97(4):567-575. doi: 10.1111/cge.13709. Epub 2020 Feb 11.
Clin Genet. 2020.
PMID: 31997314
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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: boughalem a.
Hum Mutat. 2019 Dec;40(12):2430-2443. doi: 10.1002/humu.23885. Epub 2019 Aug 26.
Hum Mutat. 2019.
PMID: 31379041
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RAS activation induces synthetic lethality of MEK inhibition with mitochondrial oxidative metabolism in acute myeloid leukemia.
Decroocq J, Birsen R, Montersino C, Chaskar P, Mano J, Poulain L, Friedrich C, Alary AS, Guermouche H, Sahal A, Fouquet G, Gotanègre M, Simonetta F, Mouche S, Gestraud P, Lescure A, Del Nery E, Bosc C, Grenier A, Mazed F, Mondesir J, Chapuis N, Ho L, Boughalem A, Lelorc'h M, Gobeaux C, Fontenay M, Recher C, Vey N, Guillé A, Birnbaum D, Hermine O, Radford-Weiss I, Tsantoulis P, Collette Y, Castellano R, Sarry JE, Pasmant E, Bouscary D, Kosmider O, Tamburini J.
Decroocq J, et al. Among authors: boughalem a.
Leukemia. 2022 May;36(5):1237-1252. doi: 10.1038/s41375-022-01541-0. Epub 2022 Mar 30.
Leukemia. 2022.
PMID: 35354920
Free PMC article.
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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: boughalem a.
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
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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: boughalem a.
Genes (Basel). 2022 Nov 3;13(11):2027. doi: 10.3390/genes13112027.
Genes (Basel). 2022.
PMID: 36360264
Free PMC article.
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