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Proxy molecular diagnosis from whole-exome sequencing reveals Papillon-Lefevre syndrome caused by a missense mutation in CTSC.
Erzurumluoglu AM, Alsaadi MM, Rodriguez S, Alotaibi TS, Guthrie PA, Lewis S, Ginwalla A, Gaunt TR, Alharbi KK, Alsaif FM, Alsaadi BM, Day IN. Erzurumluoglu AM, et al. Among authors: rodriguez s. PLoS One. 2015 Mar 23;10(3):e0121351. doi: 10.1371/journal.pone.0121351. eCollection 2015. PLoS One. 2015. PMID: 25799584 Free PMC article.
Frequency of KLK3 gene deletions in the general population.
Rodriguez S, Al-Ghamdi OA, Guthrie PA, Shihab HA, McArdle W, Gaunt T, Alharbi KK, Day IN. Rodriguez S, et al. Ann Clin Biochem. 2017 Jul;54(4):472-480. doi: 10.1177/0004563216666999. Epub 2016 Aug 23. Ann Clin Biochem. 2017. PMID: 27555663 Free PMC article.
MeltMADGE for mutation scanning of specific genes in population studies.
Alharbi KK, Aldahmesh MA, Gaunt TR, Rassoulian H, Ai Guthrie P, Rodriguez S, Boustred CR, Spanakis E, Day IN. Alharbi KK, et al. Among authors: rodriguez s. Nat Protoc. 2010 Nov;5(11):1800-12. doi: 10.1038/nprot.2010.136. Epub 2010 Oct 21. Nat Protoc. 2010. PMID: 21030955 Free PMC article.
2,202 results