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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2009 4
2010 14
2011 11
2012 8
2013 1
2015 1
2016 1
2018 2
2020 2
2021 1
2022 2
2024 1

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41 results

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Page 1
Germline Pathogenic Variant Prevalence Among Latin American and US Hispanic Individuals Undergoing Testing for Hereditary Breast and Ovarian Cancer: A Cross-Sectional Study.
Ossa Gomez CA, Achatz MI, Hurtado M, Sanabria-Salas MC, Sullcahuaman Y, Chávarri-Guerra Y, Dutil J, Nielsen SM, Esplin ED, Michalski ST, Bristow SL, Hatchell KE, Nussbaum RL, Pineda-Alvarez DE, Ashton-Prolla P. Ossa Gomez CA, et al. Among authors: pineda alvarez de. JCO Glob Oncol. 2022 Jul;8:e2200104. doi: 10.1200/GO.22.00104. JCO Glob Oncol. 2022. PMID: 35867948 Free PMC article.
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
McCormick EM, Lott MT, Dulik MC, Shen L, Attimonelli M, Vitale O, Karaa A, Bai R, Pineda-Alvarez DE, Singh LN, Stanley CM, Wong S, Bhardwaj A, Merkurjev D, Mao R, Sondheimer N, Zhang S, Procaccio V, Wallace DC, Gai X, Falk MJ. McCormick EM, et al. Among authors: pineda alvarez de. Hum Mutat. 2020 Dec;41(12):2028-2057. doi: 10.1002/humu.24107. Epub 2020 Nov 10. Hum Mutat. 2020. PMID: 32906214 Free PMC article.
How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies.
Wu D, Luo X, Feurstein S, Kesserwan C, Mohan S, Pineda-Alvarez DE, Godley LA; collaborative group of the American Society of Hematology - Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel. Wu D, et al. Among authors: pineda alvarez de. Haematologica. 2020 Apr;105(4):870-887. doi: 10.3324/haematol.2018.214221. Epub 2020 Mar 12. Haematologica. 2020. PMID: 32165484 Free PMC article. Review.
Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.
Granadillo JL, Chung WK, Hecht L, Corsten-Janssen N, Wegner D, Nij Bijvank SWA, Toler TL, Pineda-Alvarez DE, Douglas G, Murphy JJ, Shimony J, Shinawi M. Granadillo JL, et al. Among authors: pineda alvarez de. Hum Mutat. 2018 Dec;39(12):1875-1884. doi: 10.1002/humu.23627. Epub 2018 Sep 24. Hum Mutat. 2018. PMID: 30157302
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
Susswein LR, Marshall ML, Nusbaum R, Vogel Postula KJ, Weissman SM, Yackowski L, Vaccari EM, Bissonnette J, Booker JK, Cremona ML, Gibellini F, Murphy PD, Pineda-Alvarez DE, Pollevick GD, Xu Z, Richard G, Bale S, Klein RT, Hruska KS, Chung WK. Susswein LR, et al. Among authors: pineda alvarez de. Genet Med. 2016 Aug;18(8):823-32. doi: 10.1038/gim.2015.166. Epub 2015 Dec 17. Genet Med. 2016. PMID: 26681312 Free PMC article.
Exome Sequencing and High-Density Microarray Testing in Monozygotic Twin Pairs Discordant for Features of VACTERL Association.
Solomon BD, Pineda-Alvarez DE, Hadley DW, Hansen NF, Kamat A, Donovan FX, Chandrasekharappa SC, Hong SK, Roessler E, Mullikin JC; NISC Comparative Sequencing Program. Solomon BD, et al. Among authors: pineda alvarez de. Mol Syndromol. 2013 Feb;4(1-2):27-31. doi: 10.1159/000345406. Mol Syndromol. 2013. PMID: 23653574 Free PMC article.
41 results