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Variant-level matching for diagnosis and discovery: Challenges and opportunities.
Rodrigues EDS, Griffith S, Martin R, Antonescu C, Posey JE, Coban-Akdemir Z, Jhangiani SN, Doheny KF, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Sheffer A, Chong JX, Einhorn Y, Cupak M, Sobreira N. Rodrigues EDS, et al. Among authors: griffith s. 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.
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.
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.