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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 0
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39 results
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Page 1
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.
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.
Holoprosencephaly flashcards: A summary for the clinician.
Solomon BD, Pineda-Alvarez DE, Mercier S, Raam MS, Odent S, Muenke M. Solomon BD, et al. Among authors: pineda alvarez de. Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):3-7. doi: 10.1002/ajmg.c.30245. Am J Med Genet C Semin Med Genet. 2010. PMID: 20104594 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 Review.
Analysis of genotype-phenotype correlations in human holoprosencephaly.
Solomon BD, Mercier S, Vélez JI, Pineda-Alvarez DE, Wyllie A, Zhou N, Dubourg C, David V, Odent S, Roessler E, Muenke M. Solomon BD, et al. Among authors: pineda alvarez de. Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):133-41. doi: 10.1002/ajmg.c.30240. Am J Med Genet C Semin Med Genet. 2010. PMID: 20104608 Free PMC article. Review.
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.
VATER/VACTERL association: identification of seven new twin pairs, a systematic review of the literature, and a classical twin analysis.
Bartels E, Schulz AC, Mora NW, Pineda-Alvarez DE, Wijers CHW, Marcelis CM, Stressig R, Ritgen J, Schmiedeke E, Mattheisen M, Draaken M, Hoffmann P, Hilger AC, Dworschak GC, Baudisch F, Ludwig M, Bagci S, Müller A, Gembruch U, Geipel A, Berg C, Bartmann P, Nöthen MM, van Rooij IALM, Solomon BD, Reutter HM. Bartels E, et al. Among authors: pineda alvarez de. Clin Dysmorphol. 2012 Oct;21(4):191-195. doi: 10.1097/MCD.0b013e328358243c. Clin Dysmorphol. 2012. PMID: 22895008 Free PMC article. Review.
Applying Genomic Analysis to Newborn Screening.
Solomon BD, Pineda-Alvarez DE, Bear KA, Mullikin JC, Evans JP; NISC Comparative Sequencing Program. Solomon BD, et al. Among authors: pineda alvarez de. Mol Syndromol. 2012 Aug;3(2):59-67. doi: 10.1159/000341253. Epub 2012 Jul 25. Mol Syndromol. 2012. PMID: 23112750 Free PMC article.
39 results