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Page 1
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.
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.
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
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
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: boughalem a. J Clin Med. 2020 Aug 1;9(8):2466. doi: 10.3390/jcm9082466. J Clin Med. 2020. PMID: 32752152 Free PMC article.
Fetal Presentation of MYRF-Related Cardiac Urogenital Syndrome: An Emerging and Challenging Prenatal Diagnosis.
Favier M, Brischoux-Boucher E, Pyle LC, Mottet N, Auber-Lenoir M, Cattin J, Dahlen E, Cabrol C, Arbez-Gindre F, Attié-Bitach T, Boute O, Devisme L, Trost D, Boughalem A, Chitayat D, Prasov L, Chorin O, Rein-Rothschild A, Kassif E, Weissbach T, Hendon LG, Adam MP, Quelin C, Jaillard S, Mary L, Aukema SM, Heijligers M, de Die-Smulders C, Stegmann S, Badalato L, Ben-Yehuda A, Beneteau C, Forey PL, Kuentz P, Piard J. Favier M, et al. Among authors: boughalem a. Prenat Diagn. 2024 Nov 14. doi: 10.1002/pd.6700. Online ahead of print. Prenat Diagn. 2024. PMID: 39542847
Optical genome mapping identifies a homozygous deletion in the non-coding region of the SCN9A gene in individuals from the same family with congenital insensitivity to pain.
Boughalem A, Ciorna-Monferrato V, Sloboda N, Guegan A, Page F, Zimmer S, Benazra M, Kleinfinger P, Lohmann L, Valduga M, Receveur A, Martin F, Trost D. Boughalem A, et al. Front Genet. 2024 Aug 2;15:1375770. doi: 10.3389/fgene.2024.1375770. eCollection 2024. Front Genet. 2024. PMID: 39156962 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: 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 Free PMC article.
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