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  1. 1
    Characterization of an APC Promoter 1B deletion in a Patient Diagnosed with Familial Adenomatous Polyposis via Whole Genome Shotgun Sequencing [v1; ref status: indexed, http://f1000r.es/5i1]

    Characterization of an APC Promoter 1B deletion in a Patient Diagnosed with Familial Adenomatous Polyposis via Whole Genome Shotgun Sequencing [v1; ref status: indexed, http://f100... by Ted Kalbfleisch, Pamela Brock, Angela Snow, Deborah Neklason, Gordon Gowans, Jon Klein

    Published 2015-06-01
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  2. 2
    A novel essential splice site variant in SPTB in a large hereditary spherocytosis family

    A novel essential splice site variant in SPTB in a large hereditary spherocytosis family by Taina T. Nieminen, Sandya Liyanarachchi, Daniel F. Comiskey Jr., Yanqiang Wang, Wei Li, Isabella V. Hendrickson, Pamela Brock, Albert de laChapelle, Huiling He

    Published 2021-05-01
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  3. 3
    Transcriptome analysis discloses dysregulated genes in normal appearing tumor-adjacent thyroid tissues from patients with papillary thyroid carcinoma

    Transcriptome analysis discloses dysregulated genes in normal appearing tumor-adjacent thyroid tissues from patients with papillary thyroid carcinoma by Huiling He, Sandya Liyanarachchi, Wei Li, Daniel F. Comiskey, Pearlly Yan, Ralf Bundschuh, Altan M. Turkoglu, Pamela Brock, Matthew D. Ringel, Albert de la Chapelle

    Published 2021-07-01
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  4. 4
    Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond <i>BRCA1</i> and <i>BRCA2</i> in Breast and Ovarian Cancer Patients

    Clinical Impact of Pathogenic Variants in DNA Damage Repair Genes beyond <i>BRCA1</i> and <i>BRCA2</i> in Breast and Ovarian Cancer Patients by Whitney Espinel, Marjan Champine, Heather Hampel, Joanne Jeter, Kevin Sweet, Robert Pilarski, Rachel Pearlman, Kate Shane, Pamela Brock, Judith A. Westman, Lindsay Kipnis, Jilliane Sotelo, Anu Chittenden, Samantha Culver, Jill E. Stopfer, Katherine A. Schneider, Rosalba Sacca, Diane R. Koeller, Shraddha Gaonkar, Erica Vaccari, Sarah Kane, Scott T. Michalski, Shan Yang, Sarah M. Nielsen, Sara L. Bristow, Stephen E. Lincoln, Robert L. Nussbaum, Edward D. Esplin

    Published 2022-05-01
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