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Year Number of Results
1983 4
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1985 3
1986 4
1987 1
1988 3
1989 4
1990 4
1992 2
1993 2
1994 4
1995 6
1997 5
1998 2
1999 3
2000 4
2002 5
2003 6
2004 1
2005 4
2006 1
2007 2
2008 2
2009 4
2010 2
2012 2
2014 1
2015 2
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2017 3
2018 2
2019 1
2020 1
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2024 1

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98 results

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Page 1
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. 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.
Homologous Recombination Abnormalities Associated With BRCA1/2 Mutations as Predicted by Machine Learning of Targeted Next-Generation Sequencing Data.
Albitar M, Zhang H, Pecora A, Waintraub S, Graham D, Hellmann M, McNamara D, Charifa A, De Dios I, Ma W, Goy A. Albitar M, et al. Among authors: de dios i. Breast Cancer (Auckl). 2023 Sep 30;17:11782234231198979. doi: 10.1177/11782234231198979. eCollection 2023. Breast Cancer (Auckl). 2023. PMID: 37789896 Free PMC article.
A refined cell-of-origin classifier with targeted NGS and artificial intelligence shows robust predictive value in DLBCL.
Xu-Monette ZY, Zhang H, Zhu F, Tzankov A, Bhagat G, Visco C, Dybkaer K, Chiu A, Tam W, Zu Y, Hsi ED, You H, Huh J, Ponzoni M, Ferreri AJM, Møller MB, Parsons BM, van Krieken JH, Piris MA, Winter JN, Hagemeister FB, Shahbaba B, De Dios I, Zhang H, Li Y, Xu B, Albitar M, Young KH. Xu-Monette ZY, et al. Among authors: de dios i. Blood Adv. 2020 Jul 28;4(14):3391-3404. doi: 10.1182/bloodadvances.2020001949. Blood Adv. 2020. PMID: 32722783 Free PMC article.
98 results