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High diagnosis rate for nonimmune hydrops fetalis with prenatal clinical exome from the Hydrops-Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study.
Al-Kouatly HB, Makhamreh MM, Rice SM, Smith K, Harman C, Quinn A, Valcarcel BN, Firman B, Liu R, Hegde M, Critchlow E, Berger SI. Al-Kouatly HB, et al. Among authors: berger si. Genet Med. 2021 Jul;23(7):1325-1333. doi: 10.1038/s41436-021-01121-0. Epub 2021 Mar 8. Genet Med. 2021. PMID: 33686258 Free article.
Etiology and Outcome of Isolated Fetal Ascites: A Systematic Review.
Horgan R, Youssef JA, Levy AT, Berger SI, Dreux S, Brizot ML, Boutall A, Abuhamad AZ, Angarita AM, Al-Kouatly HB. Horgan R, et al. Among authors: berger si. Obstet Gynecol. 2021 Dec 1;138(6):897-904. doi: 10.1097/AOG.0000000000004605. Obstet Gynecol. 2021. PMID: 34735407
Fetal pharmacogenomics: A promising addition to complex neonatal care.
Raymond M, Critchlow E, Rice SM, Wodoslawsky S, Berger SI, Hegde M, Empey PE, Al-Kouatly HB. Raymond M, et al. Among authors: berger si. Mol Genet Metab. 2022 Sep-Oct;137(1-2):140-145. doi: 10.1016/j.ymgme.2022.08.002. Epub 2022 Aug 12. Mol Genet Metab. 2022. PMID: 36029725
Increased diagnostic yield from negative whole genome-slice panels using automated reanalysis.
Berger SI, Pitsava G, Cohen AJ, Délot EC, LoTempio J, Andrew EH, Martin GM, Marmolejos S, Albert J, Meltzer B, Fraser J, Regier DS, Kahn-Kirby AH, Smith E, Knoblach S, Ko A, Fusaro VA, Vilain E. Berger SI, et al. Clin Genet. 2023 Sep;104(3):377-383. doi: 10.1111/cge.14360. Epub 2023 May 17. Clin Genet. 2023. PMID: 37194472 Free PMC article.
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Among authors: berger si. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
68 results