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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: brabbing goldstein d. 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
Reply.
Brabbing-Goldstein D, Basel-Salmon L, Yaron Y. Brabbing-Goldstein D, et al. Ultrasound Obstet Gynecol. 2024 Mar;63(3):428-430. doi: 10.1002/uog.27597. Ultrasound Obstet Gynecol. 2024. PMID: 38426869 No abstract available.
Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a "virtual fetus" model-a pilot study.
Michaelson-Cohen R, Salzer LS, Brabbing-Goldstein D, Yaron Y, Reches A, Yonath H, Regev M, Shani H, Altarescu G, Segel R, Sukenik-Halevy R, Daum H, Harel T, Meiner V, Basel-Salmon L, Sagi-Dain L, Maya I. Michaelson-Cohen R, et al. Among authors: brabbing goldstein d. Prenat Diagn. 2024 Apr;44(4):511-518. doi: 10.1002/pd.6535. Epub 2024 Feb 14. Prenat Diagn. 2024. PMID: 38353311
Prevalence of high-penetrant copy number variants in 7734 low-risk pregnancies.
Sagi-Dain L, Salzer Sheelo L, Brabbing-Goldstein D, Matar R, Kahana S, Agmon-Fishman I, Klein C, Gurevitch M, Basel-Salmon L, Maya I. Sagi-Dain L, et al. Among authors: brabbing goldstein d. Am J Obstet Gynecol MFM. 2023 Dec;5(12):101201. doi: 10.1016/j.ajogmf.2023.101201. Epub 2023 Oct 21. Am J Obstet Gynecol MFM. 2023. PMID: 37871696
Unique prenatal manifestations of biallelic NDUFAF5 variants: expansion of phenotype.
Brabbing-Goldstein D, Kozlova D, Bazak L, Basel-Salmon L, Gilboa Y, Marciano-Levi I, Zahra J, Kanengisser-Pines B, Botvinik A, Kurolap A, Birnbaum R, Yaron Y. Brabbing-Goldstein D, et al. Ultrasound Obstet Gynecol. 2024 Mar;63(3):392-398. doi: 10.1002/uog.27482. Ultrasound Obstet Gynecol. 2024. PMID: 37718619
Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: Yield and dilemmas.
Basel-Salmon L, Ruhrman-Shahar N, Orenstein N, Levy M, Lidzbarsky GA, Batzir NA, Lifshitc-Kalis M, Farage-Barhom S, Abel G, Petasny M, Brabbing-Goldstein D, Fellner A, Bazak L. Basel-Salmon L, et al. Among authors: brabbing goldstein d. Genet Med Open. 2023 Apr 29;1(1):100813. doi: 10.1016/j.gimo.2023.100813. eCollection 2023. Genet Med Open. 2023. PMID: 39669250 Free PMC article.
Clinical utility of expanded non-invasive prenatal screening compared with chromosomal microarray analysis in over 8000 pregnancies without major structural anomaly.
Maya I, Salzer Sheelo L, Brabbing-Goldstein D, Matar R, Kahana S, Agmon-Fishman I, Klein C, Gurevitch M, Basel-Salmon L, Sagi-Dain L. Maya I, et al. Among authors: brabbing goldstein d. Ultrasound Obstet Gynecol. 2023 Jun;61(6):698-704. doi: 10.1002/uog.26177. Ultrasound Obstet Gynecol. 2023. PMID: 36776119 Free article.
22 results