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15q24.1 BP4-BP1 microdeletion unmasking paternally inherited functional polymorphisms combined with distal 15q24.2q24.3 duplication in a patient with epilepsy, psychomotor delay, overweight, ventricular arrhythmia.
Huynh MT, Lambert AS, Tosca L, Petit F, Philippe C, Parisot F, Benoît V, Linglart A, Brisset S, Tran CT, Tachdjian G, Receveur A. Huynh MT, et al. Among authors: benoit v. Eur J Med Genet. 2018 Aug;61(8):459-464. doi: 10.1016/j.ejmg.2018.03.005. Epub 2018 Mar 14. Eur J Med Genet. 2018. PMID: 29549028
Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C.
Tosca L, Drévillon L, Mouka A, Lecerf L, Briand A, Ortonne V, Benoit V, Brisset S, Van Maldergem L, Laudouar Q, Heide S, Goossens M, Giurgea I, Tachdjian G, Métay C. Tosca L, et al. Among authors: benoit v. Mol Genet Genomic Med. 2021 Nov;9(11):e1645. doi: 10.1002/mgg3.1645. Epub 2021 Sep 28. Mol Genet Genomic Med. 2021. PMID: 34582124 Free PMC article.
Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant.
Huby T, Le Guillou E, Burin des Roziers C, Pacot L, Briand-Suleau A, Chansavang A, Toussaint A, Duchossoy V, Vaucouleur N, Benoit V, Lodé L, Molac C, North MO, Grotto S, Tsatsaris V, Jouinot A, Cochand-Priollet B, Paepegaey AC, Nectoux J, Groussin L, Pasmant E. Huby T, et al. Among authors: benoit v. J Clin Endocrinol Metab. 2022 Mar 24;107(4):e1367-e1373. doi: 10.1210/clinem/dgab894. J Clin Endocrinol Metab. 2022. PMID: 34897474
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, Topf A, Vissers LELM; Solve-RD Consortium; Laurie S. Demidov G, et al. NPJ Genom Med. 2024 Oct 26;9(1):49. doi: 10.1038/s41525-024-00436-6. NPJ Genom Med. 2024. PMID: 39461972 Free PMC article.
Incidence and risk factors for thromboembolic events in pediatric-onset inflammatory bowel disease: A French population-based study.
Richard N, Leroyer A, Ley D, Dupont C, Bertrand V, Wils P, Gower-Rousseau C, Turck D, Guillon N, Sarter H, Savoye G, Fumery M; “EPIMAD study group”. Richard N, et al. Dig Liver Dis. 2024 Sep 24:S1590-8658(24)01004-1. doi: 10.1016/j.dld.2024.09.005. Online ahead of print. Dig Liver Dis. 2024. PMID: 39322448 Free article.
Author Correction: IFNγ-IL12 axis regulates intercellular crosstalk in metabolic dysfunction-associated steatotic liver disease.
Friedline RH, Noh HL, Suk S, Albusharif M, Dagdeviren S, Saengnipanthkul S, Kim B, Kim AM, Kim LH, Tauer LA, Baez Torres NM, Choi S, Kim BY, Rao SD, Kasina K, Sun C, Toles BJ, Zhou C, Li Z, Benoit VM, Patel PR, Zheng DXT, Inashima K, Beaverson A, Hu X, Tran DA, Muller W, Greiner DL, Mullen AC, Lee KW, Kim JK. Friedline RH, et al. Among authors: benoit vm. Nat Commun. 2024 Jul 23;15(1):6195. doi: 10.1038/s41467-024-50607-3. Nat Commun. 2024. PMID: 39043691 Free PMC article. No abstract available.
144 results