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The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Genet Med. 2023 Dec;25(12):100947. doi: 10.1016/j.gim.2023.100947. Epub 2023 Jul 30.
Genet Med. 2023.
PMID: 37534744
Woodhouse-Sakati syndrome in an Indian patient with a novel pathogenic variant.
Amalnath SD, Jothivanan, Oshima J, Buchan JG, Paolucci S.
Amalnath SD, et al.
Am J Med Genet A. 2024 Jan;194(1):100-102. doi: 10.1002/ajmg.a.63405. Epub 2023 Sep 14.
Am J Med Genet A. 2024.
PMID: 37706616
Free PMC article.
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Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions.
Schönauer R, Jin W, Findeisen C, Valenzuela I, Devlin LA, Murrell J, Bedoukian EC, Pöschla L, Hantmann E, Riedhammer KM, Hoefele J, Platzer K, Biemann R, Campeau PM, Münch J, Heyne H, Hoffmann A, Ghosh A, Sun W, Dong H, Noé F, Wolfrum C, Woods E, Parker MJ, Neatu R, Le Guyader G, Bruel AL, Perrin L, Spiewak H; Genomics England Research Consortium; Missotte I, Fourgeaud M, Michaud V, Lacombe D, Paolucci SA, Buchan JG, Glissmeyer M, Popp B, Blüher M, Sayer JA, Halbritter J.
Schönauer R, et al. Among authors: paolucci sa.
Am J Hum Genet. 2023 Jun 1;110(6):998-1007. doi: 10.1016/j.ajhg.2023.04.010. Epub 2023 May 18.
Am J Hum Genet. 2023.
PMID: 37207645
Free PMC article.
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Multiple Copy Number Variants Detected by Noninvasive Prenatal Testing.
Paolucci SA, Ma KK, Paulson V, Gadi VK, Lockwood CM.
Paolucci SA, et al.
Clin Chem. 2022 May 18;68(5):627-632. doi: 10.1093/clinchem/hvac040.
Clin Chem. 2022.
PMID: 35584795
No abstract available.
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Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Münch J, Engesser M, Schönauer R, Hamm JA, Hartig C, Hantmann E, Akay G, Pehlivan D, Mitani T, Coban Akdemir Z, Tüysüz B, Shirakawa T, Dateki S, Claus LR, van Eerde AM; Genomics England Research Consortium; Smol T, Devisme L, Franquet H, Attié-Bitach T, Wagner T, Bergmann C, Höhn AK, Shril S, Pollack A, Wenger T, Scott AA, Paolucci S, Buchan J, Gabriel GC, Posey JE, Lupski JR, Petit F, McCarthy AA, Pazour GJ, Lo CW, Popp B, Halbritter J.
Münch J, et al.
Kidney Int. 2022 May;101(5):1039-1053. doi: 10.1016/j.kint.2022.01.028. Epub 2022 Feb 26.
Kidney Int. 2022.
PMID: 35227688
Free PMC article.
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