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A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.
Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, Strom CM, Keiles SB, Higgins JJ. Karbassi I, et al. Among authors: sun w. Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29. Hum Mutat. 2016. PMID: 26467025 Free PMC article.
Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.
Rosenthal SH, Sun W, Zhang K, Liu Y, Nguyen Q, Gerasimova A, Nery C, Cheng L, Castonguay C, Hiller E, Li J, Elzinga C, Wolfson D, Smolgovsky A, Chen R, Buller-Burckle A, Catanese J, Grupe A, Lacbawan F, Owen R. Rosenthal SH, et al. Among authors: sun w. Biomed Res Int. 2020 Jan 22;2020:3289023. doi: 10.1155/2020/3289023. eCollection 2020. Biomed Res Int. 2020. PMID: 32090079 Free PMC article.
Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHD.
Vasale J, Boyar F, Jocson M, Sulcova V, Chan P, Liaquat K, Hoffman C, Meservey M, Chang I, Tsao D, Hensley K, Liu Y, Owen R, Braastad C, Sun W, Walrafen P, Komatsu J, Wang JC, Bensimon A, Anguiano A, Jaremko M, Wang Z, Batish S, Strom C, Higgins J. Vasale J, et al. Among authors: sun w. Neuromuscul Disord. 2015 Dec;25(12):945-51. doi: 10.1016/j.nmd.2015.08.008. Epub 2015 Aug 21. Neuromuscul Disord. 2015. PMID: 26420234
Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS).
Strom CM, Anderson B, Tsao D, Zhang K, Liu Y, Livingston K, Elzinga C, Evans M, Nguyen Q, Wolfson D, Rowland C, Kolacki P, Maxwell M, Wang JC, Rabin D, Catanese J, Owen R, Braastad C, Sun W. Strom CM, et al. Among authors: sun w. PLoS One. 2017 Mar 1;12(3):e0167130. doi: 10.1371/journal.pone.0167130. eCollection 2017. PLoS One. 2017. PMID: 28248967 Free PMC article.
A large deletion in the CFTR gene in CBAVD.
Hantash FM, Milunsky A, Wang Z, Anderson B, Sun W, Anguiano A, Strom CM. Hantash FM, et al. Among authors: sun w. Genet Med. 2006 Feb;8(2):93-5. doi: 10.1097/01.gim.0000200945.54234.d7. Genet Med. 2006. PMID: 16481891 Free article.
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