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Page 1
Variant-level matching for diagnosis and discovery: Challenges and opportunities.
Hum Mutat. 2022 Jun;43(6):782-790. doi: 10.1002/humu.24359. Epub 2022 Mar 21.
Hum Mutat. 2022.
PMID: 35191117
Free PMC article.
The impact of GeneMatcher on international data sharing and collaboration.
Hamosh A, Wohler E, Martin R, Griffith S, Rodrigues EDS, Antonescu C, Doheny KF, Valle D, Sobreira N.
Hamosh A, et al. Among authors: griffith s.
Hum Mutat. 2022 Jun;43(6):668-673. doi: 10.1002/humu.24350. Epub 2022 Mar 28.
Hum Mutat. 2022.
PMID: 35170833
Free PMC article.
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A coronavirus disease 2019 (COVID-19) patient with bilateral orchitis.
Bridwell RE, Merrill DR, Griffith SA, Wray J, Oliver JJ.
Bridwell RE, et al. Among authors: griffith sa.
Am J Emerg Med. 2021 Apr;42:260.e3-260.e5. doi: 10.1016/j.ajem.2020.08.068. Epub 2020 Aug 27.
Am J Emerg Med. 2021.
PMID: 32888763
Free PMC article.
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PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data.
Wohler E, Martin R, Griffith S, Rodrigues EDS, Antonescu C, Posey JE, Coban-Akdemir Z, Jhangiani SN, Doheny KF, Lupski JR, Valle D, Hamosh A, Sobreira N.
Wohler E, et al. Among authors: griffith s.
Orphanet J Rare Dis. 2021 Aug 18;16(1):365. doi: 10.1186/s13023-021-01916-z.
Orphanet J Rare Dis. 2021.
PMID: 34407837
Free PMC article.
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Generating Exome Enriched Sequencing Libraries from Formalin-Fixed, Paraffin-Embedded Tissue DNA for Next-Generation Sequencing.
Marosy BA, Craig BD, Hetrick KN, Witmer PD, Ling H, Griffith SM, Myers B, Ostrander EA, Stanford JL, Brody LC, Doheny KF.
Marosy BA, et al. Among authors: griffith sm.
Curr Protoc Hum Genet. 2017 Jan 11;92:18.10.1-18.10.25. doi: 10.1002/cphg.27.
Curr Protoc Hum Genet. 2017.
PMID: 28075488
Free PMC article.
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Comparison of parametric and machine methods for variable selection in simulated Genetic Analysis Workshop 19 data.
Holzinger ER, Szymczak S, Malley J, Pugh EW, Ling H, Griffith S, Zhang P, Li Q, Cropp CD, Bailey-Wilson JE.
Holzinger ER, et al. Among authors: griffith s.
BMC Proc. 2016 Oct 18;10(Suppl 7):147-152. doi: 10.1186/s12919-016-0021-1. eCollection 2016.
BMC Proc. 2016.
PMID: 27980627
Free PMC article.
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