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Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life.
Werfel L, Martens H, Hennies I, Gjerstad AC, Fröde K, Altarescu G, Banerjee S, Valenzuela Palafoll I, Geffers R, Kirschstein M, Christians A, Bjerre A, Haffner D, Weber RG. Werfel L, et al. Among authors: altarescu g. Kidney Int Rep. 2023 Aug 14;8(11):2439-2457. doi: 10.1016/j.ekir.2023.08.008. eCollection 2023 Nov. Kidney Int Rep. 2023. PMID: 38025229 Free PMC article.
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: altarescu g. Prenat Diagn. 2024 Apr;44(4):511-518. doi: 10.1002/pd.6535. Epub 2024 Feb 14. Prenat Diagn. 2024. PMID: 38353311
The new face of cystic fibrosis in the era of population genetic carrier screening.
Dotan M, Blau H, Singer A, Stafler P, Prais D, Cohen-Cymberknoh M, Reiter J, Efrati O, Dagan A, Bentur L, Gur M, Livnat G, Yaacoby-Bianu K, Aviram M, Golan Tripto I, Bar-On O, Matar R, Hagit S, Malcov M, Altarescu G, Segev H, Feldman B, Kerem E, Mei-Zahav M. Dotan M, et al. Among authors: altarescu g. J Cyst Fibros. 2023 Nov 16:S1569-1993(23)01674-0. doi: 10.1016/j.jcf.2023.11.003. Online ahead of print. J Cyst Fibros. 2023. PMID: 37980178
Aneuploidy in oocytes from women of advanced maternal age: analysis of the causal meiotic errors and impact on embryo development.
Verdyck P, Altarescu G, Santos-Ribeiro S, Vrettou C, Koehler U, Griesinger G, Goossens V, Magli C, Albanese C, Parriego M, Coll L, Ron-El R, Sermon K, Traeger-Synodinos J. Verdyck P, et al. Among authors: altarescu g. Hum Reprod. 2023 Dec 4;38(12):2526-2535. doi: 10.1093/humrep/dead201. Hum Reprod. 2023. PMID: 37814912 Clinical Trial.
Polygenic embryo screening: four clinical considerations warrant further attention.
Pereira S, Carmi S, Altarescu G, Austin J, Barlevy D, Hershlag A, Juengst E, Kostick-Quenet K, Kovanci E, Lathi RB, Mukherjee M, Van den Veyver I, Zuk O, Lázaro-Muñoz G, Lencz T. Pereira S, et al. Among authors: altarescu g. Hum Reprod. 2022 Jun 30;37(7):1375-1378. doi: 10.1093/humrep/deac110. Hum Reprod. 2022. PMID: 35604365 Free PMC article.
Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung-specific enhancer in trans to the frameshifting TBX4 variant.
Yıldız Bölükbaşı E, Karolak JA, Szafranski P, Gambin T, Murik O, Zeevi DA, Altarescu G, Stankiewicz P. Yıldız Bölükbaşı E, et al. Among authors: altarescu g. Am J Med Genet A. 2022 May;188(5):1420-1425. doi: 10.1002/ajmg.a.62656. Epub 2022 Jan 25. Am J Med Genet A. 2022. PMID: 35075769 Free PMC article.
129 results