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Plain-language medical vocabulary for precision diagnosis.
Nat Genet. 2018 Apr;50(4):474-476. doi: 10.1038/s41588-018-0096-x.
Nat Genet. 2018.
PMID: 29632381
Free PMC article.
No abstract available.
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Köhler S, Carmody L, Vasilevsky N, Jacobsen JOB, Danis D, Gourdine JP, Gargano M, Harris NL, Matentzoglu N, McMurry JA, Osumi-Sutherland D, Cipriani V, Balhoff JP, Conlin T, Blau H, Baynam G, Palmer R, Gratian D, Dawkins H, Segal M, Jansen AC, Muaz A, Chang WH, Bergerson J, Laulederkind SJF, Yüksel Z, Beltran S, Freeman AF, Sergouniotis PI, Durkin D, Storm AL, Hanauer M, Brudno M, Bello SM, Sincan M, Rageth K, Wheeler MT, Oegema R, Lourghi H, Della Rocca MG, Thompson R, Castellanos F, Priest J, Cunningham-Rundles C, Hegde A, Lovering RC, Hajek C, Olry A, Notarangelo L, Similuk M, Zhang XA, Gómez-Andrés D, Lochmüller H, Dollfus H, Rosenzweig S, Marwaha S, Rath A, Sullivan K, Smith C, Milner JD, Leroux D, Boerkoel CF, Klion A, Carter MC, Groza T, Smedley D, Haendel MA, Mungall C, Robinson PN.
Köhler S, et al. Among authors: della rocca mg.
Nucleic Acids Res. 2019 Jan 8;47(D1):D1018-D1027. doi: 10.1093/nar/gky1105.
Nucleic Acids Res. 2019.
PMID: 30476213
Free PMC article.
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The Monarch Initiative in 2019: an integrative data and analytic platform connecting phenotypes to genotypes across species.
Shefchek KA, Harris NL, Gargano M, Matentzoglu N, Unni D, Brush M, Keith D, Conlin T, Vasilevsky N, Zhang XA, Balhoff JP, Babb L, Bello SM, Blau H, Bradford Y, Carbon S, Carmody L, Chan LE, Cipriani V, Cuzick A, Della Rocca M, Dunn N, Essaid S, Fey P, Grove C, Gourdine JP, Hamosh A, Harris M, Helbig I, Hoatlin M, Joachimiak M, Jupp S, Lett KB, Lewis SE, McNamara C, Pendlington ZM, Pilgrim C, Putman T, Ravanmehr V, Reese J, Riggs E, Robb S, Roncaglia P, Seager J, Segerdell E, Similuk M, Storm AL, Thaxon C, Thessen A, Jacobsen JOB, McMurry JA, Groza T, Köhler S, Smedley D, Robinson PN, Mungall CJ, Haendel MA, Munoz-Torres MC, Osumi-Sutherland D.
Shefchek KA, et al.
Nucleic Acids Res. 2020 Jan 8;48(D1):D704-D715. doi: 10.1093/nar/gkz997.
Nucleic Acids Res. 2020.
PMID: 31701156
Free PMC article.
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Using the internet to seek information about genetic and rare diseases: a case study comparing data from 2006 and 2011.
Morgan T, Schmidt J, Haakonsen C, Lewis J, Della Rocca M, Morrison S, Biesecker B, Kaphingst KA.
Morgan T, et al.
JMIR Res Protoc. 2014 Feb 24;3(1):e10. doi: 10.2196/resprot.2916.
JMIR Res Protoc. 2014.
PMID: 24565858
Free PMC article.
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Genetics content in the graduate audiology curriculum: a survey of academic programs.
Arnos KS, Della Rocca MG, Karchmer MA, Culpepper B, Cohn WF.
Arnos KS, et al. Among authors: della rocca mg.
Am J Audiol. 2004 Dec;13(2):126-34. doi: 10.1044/1059-0889(2004/017).
Am J Audiol. 2004.
PMID: 15903138
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