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2q13 Distal Microdeletion: Considering Evidence for an Emerging Syndrome Versus Susceptibility Locus: Twenty-Five New Cases and Review of the Literature.
Elron E, Shohat M, Basel-Salmon L, Kahana S, Matar R, Klein K, Agmon-Fishman I, Gurevitch M, Berger R, Brabbing-Goldstein D, Levy M, Maya I. Elron E, et al. Among authors: basel salmon l. Am J Med Genet A. 2024 Nov 25:e63946. doi: 10.1002/ajmg.a.63946. Online ahead of print. Am J Med Genet A. 2024. PMID: 39587838
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.
Zanetti A, Dujardin G, Fares-Taie L, Amiel J, Roger JE, Audo I, Robert MP, David P, Jung V, Goudin N, Guerrera IC, Moriceau S, Amana D, Assia Batzir N, Bachar-Zipori A, Basel Salmon L, Boddaert N, Briault S, Bruel AL, Costet-Fighiera C, Coutinho Santos L, Gitiaux C, Kaminska K, Kuentz P, Orenstein N, Philip-Sarles N, Plutino M, Quinodoz M, Santos C, Sigaudy S, Soeiro E Sá M, Sofrin E, Sousa AB, Sousa-Luis R, Thauvin-Robinet C, van Dijk EL, Zaafrane-Khachnaoui K, Zur D, Kaplan J, Rivolta C, Rozet JM, Perrault I. Zanetti A, et al. Among authors: basel salmon l. Nat Commun. 2024 Nov 21;15(1):10096. doi: 10.1038/s41467-024-54549-8. Nat Commun. 2024. PMID: 39572588 Free PMC article.
Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal Cohort.
Brabbing-Goldstein D, Bazak L, Ruhrman-Shahar N, Lidzbarsky GA, Orenstein N, Lifshiz-Kalis M, Asia-Batzir N, Goldberg Y, Basel-Salmon L. Brabbing-Goldstein D, et al. Among authors: basel salmon l. Prenat Diagn. 2024 Nov;44(12):1423-1434. doi: 10.1002/pd.6659. Epub 2024 Sep 5. Prenat Diagn. 2024. PMID: 39237446
Machine learning-enhanced noninvasive prenatal testing of monogenic disorders.
Liscovitch-Brauer N, Mesika R, Rabinowitz T, Volkov H, Grad M, Matar RT, Basel-Salmon L, Tadmor O, Beker A, Shomron N. Liscovitch-Brauer N, et al. Among authors: basel salmon l. Prenat Diagn. 2024 Aug;44(9):1024-1032. doi: 10.1002/pd.6570. Epub 2024 Apr 30. Prenat Diagn. 2024. PMID: 38687007
90 results