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Author Details

Marissa S Ellingson
Mayo Clinic
2014
13
10
PMIDPaper TitleJournal TitlePublished Year
36745126Impact of integrated translational research on clinical exome sequencing.Genet Med2023
33144682Impact of integrated translational research on clinical exome sequencing.Genet Med2021
34642815WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins.Hum Genet2021
34041744CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.Epilepsia2021
30632316RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas.Mol Genet Genomic Med2019
31239556CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.Genet Med2019
29069303A prospective genome-wide study of prostate cancer metastases reveals association of wnt pathway activation and increased cell cycle proliferation with primary resistance to abiraterone acetate-prednisone.Ann Oncol2018
28376176Tumor Sequencing and Patient-Derived Xenografts in the Neoadjuvant Treatment of Breast Cancer.J Natl Cancer Inst2017
27084275Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer.BMJ Open2016
26296701Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.Breast Cancer Res Treat2015
23790112Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome.Clin Genet2014
24388019Preemptive genotyping for personalized medicine: design of the right drug, right dose, right time-using genomic data to individualize treatment protocol.Mayo Clin Proc2014
24525918Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review.Genet Med2014
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