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Exome sequencing in 32 patients with anophthalmia/microphthalmia and developmental eye defects.
Slavotinek AM, Garcia ST, Chandratillake G, Bardakjian T, Ullah E, Wu D, Umeda K, Lao R, Tang PL, Wan E, Madireddy L, Lyalina S, Mendelsohn BA, Dugan S, Tirch J, Tischler R, Harris J, Clark MJ, Chervitz S, Patwardhan A, West JM, Ursell P, de Alba Campomanes A, Schneider A, Kwok PY, Baranzini S, Chen RO. Slavotinek AM, et al. Among authors: chen ro. Clin Genet. 2015 Nov;88(5):468-73. doi: 10.1111/cge.12543. Epub 2015 Jan 6. Clin Genet. 2015. PMID: 25457163 Free PMC article.
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A, Harris J, Leng N, Bartha G, Church DM, Luo S, Haudenschild C, Pratt M, Zook J, Salit M, Tirch J, Morra M, Chervitz S, Li M, Clark M, Garcia S, Chandratillake G, Kirk S, Ashley E, Snyder M, Altman R, Bustamante C, Butte AJ, West J, Chen R. Patwardhan A, et al. Among authors: chen r. Genome Med. 2015 Jul 16;7(1):71. doi: 10.1186/s13073-015-0197-4. eCollection 2015. Genome Med. 2015. PMID: 26269718 Free PMC article.
Early somatic mosaicism is a rare cause of long-QT syndrome.
Priest JR, Gawad C, Kahlig KM, Yu JK, O'Hara T, Boyle PM, Rajamani S, Clark MJ, Garcia ST, Ceresnak S, Harris J, Boyle S, Dewey FE, Malloy-Walton L, Dunn K, Grove M, Perez MV, Neff NF, Chen R, Maeda K, Dubin A, Belardinelli L, West J, Antolik C, Macaya D, Quertermous T, Trayanova NA, Quake SR, Ashley EA. Priest JR, et al. Among authors: chen r. Proc Natl Acad Sci U S A. 2016 Oct 11;113(41):11555-11560. doi: 10.1073/pnas.1607187113. Epub 2016 Sep 28. Proc Natl Acad Sci U S A. 2016. PMID: 27681629 Free PMC article.
Are minor alleles more likely to be risk alleles?
Kido T, Sikora-Wohlfeld W, Kawashima M, Kikuchi S, Kamatani N, Patwardhan A, Chen R, Sirota M, Kodama K, Hadley D, Butte AJ. Kido T, et al. Among authors: chen r. BMC Med Genomics. 2018 Jan 19;11(1):3. doi: 10.1186/s12920-018-0322-5. BMC Med Genomics. 2018. PMID: 29351777 Free PMC article.
Prediction of Immunotherapy Response in Melanoma through Combined Modeling of Neoantigen Burden and Immune-Related Resistance Mechanisms.
Abbott CW, Boyle SM, Pyke RM, McDaniel LD, Levy E, Navarro FCP, Mellacheruvu D, Zhang SV, Tan M, Santiago R, Rusan ZM, Milani P, Bartha G, Harris J, McClory R, Snyder MP, Jang S, Chen R. Abbott CW, et al. Among authors: chen r. Clin Cancer Res. 2021 Aug 1;27(15):4265-4276. doi: 10.1158/1078-0432.CCR-20-4314. Clin Cancer Res. 2021. PMID: 34341053 Free PMC article.
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