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Akademický článek

Precision needle-punch tumor enrichment from paraffin blocks improves the detection of clinically actionable genomic alterations and biomarkers

Autor: Douglas I. Lin, Richard S. P. Huang, Ioannis Ladas, Rachel B. Keller, Nimesh R. Patel, Sotirios Lakis, Brennan Decker, Tyler Janovitz, Douglas A. Mata, Jeffrey S. Ross, Jo-Anne Vergilio, Julia A. Elvin, Roy S. Herbst, Philip C. Mack, Jonathan K. Killian

Publikováno v: Frontiers in Oncology, Vol 14 (2024)

BackgroundWhile many molecular assays can detect mutations at low tumor purity and variant allele frequencies, complex biomarkers such as tumor mutational burden (TMB), microsatellite instability (MSI), and genomic loss of heterozygosity (gLOH) requi

Externí odkaz: https://doaj.org/article/f00911dcecc04bac98bd66bb18ec2b34

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Akademický článek

Molecular profiling of mesonephric and mesonephric-like carcinomas of cervical, endometrial and ovarian origin

Autor: Douglas I. Lin, Nikunj Shah, Julie Y. Tse, Jonathan K. Killian, Amanda Hemmerich, Claire Edgerly, James Haberberger, Eric A. Severson, Richard S.P. Huang, Shakti H. Ramkissoon, Jo-Anne Vergilio, Jeffrey S. Ross, Julia A. Elvin

Publikováno v: Gynecologic Oncology Reports, Vol 34, Iss , Pp 100652- (2020)

Mesonephric carcinoma is a rare cancer that most often arises within the cervix, and less frequently, in the ovary and endometrium. A retrospective search of our CLIA-certified and CAP-accredited reference molecular laboratory database (Foundation Me

Externí odkaz: https://doaj.org/article/084d9ff953d44eab8571217dce0682cc

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Akademický článek

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Phenotypic predictors of pathogenic variants in probands with hypertrophic cardiomyopathy

Autor: D Ranganathan, M K Killian, D M Moore, M G Gallagher, C M C G McGorrian, J G Galvin

Publikováno v: European Heart Journal. 43

Introduction Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiomyopathy (CM) and a leading cause of sudden cardiac death (SCD). With growing access to genetic testing, and incorporation of genetics in diagnosis and personalized man

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a158823ef18a7b33f3b490bcfbb351f8
https://doi.org/10.1093/eurheartj/ehac544.2994

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Molecular analysis of endometrial serous carcinoma reveals distinct clinicopathologic and genomic subgroups

Autor: Douglas I. Lin, Alexander Fine, Natalie A. Danziger, Richard S.P. Huang, Douglas A. Mata, Brennan Decker, Jonathan K. Killian, Shakti H. Ramkissoon, Mirna Lechpammer, Tyler Janovitz, Jeffrey S. Ross, Ethan S. Sokol, Julia A. Elvin

Publikováno v: Gynecologic oncology. 164(3)

Endometrial serous carcinoma (EMSC) is an aggressive variant of uterine cancer with limited therapeutic options. We sought to define distinct clinicopathologic and genomic EMSC subgroups.We retrospectively analyzed 2159 EMSC and 2346 endometrioid-typ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::167ae936843b4a0c6b2e213b67b389ac
https://pubmed.ncbi.nlm.nih.gov/34998597

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