Search Results - "PELAK, Kimberly"

Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis by Oz-Levi, Danit, Ben-Zeev, Bruria, Ruzzo, Elizabeth K., Hitomi, Yuki, Gelman, Amir, Pelak, Kimberly, Anikster, Yair, Reznik-Wolf, Haike, Bar-Joseph, Ifat, Olender, Tsviya, Alkelai, Anna, Weiss, Meira, Ben-Asher, Edna, Ge, Dongliang, Shianna, Kevin V., Elazar, Zvulun, Goldstein, David B., Pras, Elon, Lancet, Doron

“…We studied five individuals from three Jewish Bukharian families affected by an apparently autosomal-recessive form of hereditary spastic paraparesis…”
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Using ERDS to Infer Copy-Number Variants in High-Coverage Genomes by Zhu, Mingfu, Need, Anna C., Han, Yujun, Ge, Dongliang, Maia, Jessica M., Zhu, Qianqian, Heinzen, Erin L., Cirulli, Elizabeth T., Pelak, Kimberly, He, Min, Ruzzo, Elizabeth K., Gumbs, Curtis, Singh, Abanish, Feng, Sheng, Shianna, Kevin V., Goldstein, David B.

“…Although there are many methods available for inferring copy-number variants (CNVs) from next-generation sequence data, there remains a need for a system that…”
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Copy number variation of KIR genes influences HIV-1 control by Pelak, Kimberly, Need, Anna C, Fellay, Jacques, Shianna, Kevin V, Feng, Sheng, Urban, Thomas J, Ge, Dongliang, De Luca, Andrea, Martinez-Picado, Javier, Wolinsky, Steven M, Martinson, Jeremy J, Jamieson, Beth D, Bream, Jay H, Martin, Maureen P, Borrow, Persephone, Letvin, Norman L, McMichael, Andrew J, Haynes, Barton F, Telenti, Amalio, Carrington, Mary, Goldstein, David B, Alter, Galit

“…A genome-wide screen for large structural variants showed that a copy number variant (CNV) in the region encoding killer cell immunoglobulin-like receptors…”
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Host Determinants of HIV-1 Control in African Americans by Pelak, Kimberly, Goldstein, David B., Walley, Nicole M., Fellay, Jacques, Ge, Dongliang, Shianna, Kevin V., Gumbs, Curtis, Gao, Xiaojiang, Maia, Jessica M., Cronin, Kenneth D., Hussain, Shehnaz K., Carrington, Mary, Michael, Nelson L., Weintrob, Amy C.

“…We performed a whole-genome association study of human immunodeficiency virus type 1 (HIV-1) set point among a cohort of African Americans (n=515), and an…”
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Correction: Copy Number Variation of KIR Genes Influences HIV-1 Control by Pelak, Kimberly, Need, Anna C., Fellay, Jacques, Shianna, Kevin V., Feng, Sheng, Urban, Thomas J., Ge, Dongliang, De Luca, Andrea, Martinez-Picado, Javier, Wolinsky, Steven M., Martinson, Jeremy J., Jamieson, Beth D., Bream, Jay H., Martin, Maureen P., Borrow, Persephone, Letvin, Norman L., McMichael, Andrew J., Haynes, Barton F., Telenti, Amalio, Carrington, Mary, Goldstein, David B., Alter, Galit

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Clinical utility of coronary CT angiography: Coronary stenosis detection and prognosis in ambulatory patients by Lesser, John R., Flygenring, Bjorn, Knickelbine, Thomas, Hara, Hidehiko, Henry, Jason, Kalil, Ayesha, Pelak, Kimberly, Lindberg, Jana, Pelzel, Jamie, Schwartz, Robert S.

“…Introduction: Multislice CT coronary angiography (MSCTA) accurately detects stenosis in patients undergoing coronary arteriography, but its accuracy in…”
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Development, Validation, and Implementation of an Augmented Multiwell, Multitarget Quantitative PCR for the Analysis of Human Papillomavirus Genotyping through Software Automation, Data Science, and Artificial Intelligence by Pereira, A. Rita, Redzic, Nina, Van Vooren, Steven, Pelak, Kimberly, Broekmans, An, Desloovere, Guus, Vanden Broeck, Davy, Kehoe, Kaat, Bogers, Johannes, Coppens, Astrid, Vreysen, Samme, Mailleux, Jo, Uten, Wouter

“…The value of human papillomavirus (HPV) testing for cervical cancer screening is well established; however, its use as a primary screening option or as a…”
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Comprehensive analysis of tumor NGS data to demonstrate pathways pointing to therapeutic targeting options by Krishnan, Subha, Perlina, Ally, Thomas, Alex, Kakaradov, Boyko, Delport, Wayne, Nehring, Ramlah B, Shinbrot, Eve, Natarajan, Thanemozhi G, Lau, Corine K, Gylfe, Alexandra E, Sainger, Rachana, Pelak, Kimberly, Smith, Heather L, Biggs, William, Perkins, Brad, Cohen, Ezra E.W., Bloom, Kenneth Joel

“…Abstract only e23153 Background: Recent advancements in NGS technology have enabled precision medicine based on tumor-specific genomic alterations. However,…”
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SVA: software for annotating and visualizing sequenced human genomes by Ge, Dongliang, Ruzzo, Elizabeth K., Shianna, Kevin V., He, Min, Pelak, Kimberly, Heinzen, Erin L., Need, Anna C., Cirulli, Elizabeth T., Maia, Jessica M., Dickson, Samuel P., Zhu, Mingfu, Singh, Abanish, Allen, Andrew S., Goldstein, David B.

“…Here we present Sequence Variant Analyzer (SVA), a software tool that assigns a predicted biological function to variants identified in next-generation…”
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Tumor profiling from whole-genome and whole transcriptome sequencing to uncover gene fusions and structural variations in clinically relevant cancer genes by Gylfe, Alexandra E, Shinbrot, Eve, Kakaradov, Boyko, Delport, Wayne, Lau, Corine K, Krishnan, Subha, Perlina, Ally, Natarajan, Thanemozhi G, Sainger, Rachana, Pelak, Kimberly, Choppa, Paul, Cooc, Janine, Biggs, William, Smith, Heather L, Perkins, Brad, Jones, Daniel G, Nehring, Ramlah B, Cohen, Ezra E.W., Bloom, Kenneth Joel

“…Abstract only e23118 Background: Current targeted cancer therapies rely on the identification of clinically relevant somatic alterations in the tumor. Hotspot…”
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CCL3L1 and HIV/AIDS susceptibility by Goldstein, David B, Urban, Thomas J, Weintrob, Amy C, Fellay, Jacques, Colombo, Sara, Shianna, Kevin V, Gumbs, Curtis, Rotger, Margalida, Pelak, Kimberly, Dang, Kristen K, Detels, Roger, Martinson, Jeremy J, O'Brien, Stephen J, Letvin, Norman L, McMichael, Andrew J, Haynes, Barton F, Carrington, Mary, Telenti, Amalio, Michael, Nelson L

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Abstract 3509: Complementary analysis of LKB1/STK11 mutation and protein expression status using next-generation sequencing, Sanger sequencing and immunohistochemistry by Pelak, Kimberly, Wright, Jennifer, Yan, Zhenyu, Darwanto, Agus, Liu, Weihua, Fang, Peng, Li, Jin, Sankar, Sabita, Galderisi, Chad

“…Introduction: LKB1 (liver kinase B1)/STK11 (serine-threonine kinase 11) is a tumor suppressor that encodes a serine/threonine kinase which negatively regulates…”
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A genome-wide association study of variants associated with acquisition of Staphylococcus aureus bacteremia in a healthcare setting by Nelson, Charlotte L, Pelak, Kimberly, Podgoreanu, Mihai V, Ahn, Sun Hee, Scott, William K, Allen, Andrew S, Cowell, Lindsay G, Rude, Thomas H, Zhang, Yurong, Tong, Amy, Ruffin, Felicia, Sharma-Kuinkel, Batu K, Fowler, Jr, Vance G

“…Humans vary in their susceptibility to acquiring Staphylococcus aureus infection, and research suggests that there is a genetic basis for this variability…”
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A genomic score prognostic of outcome in trauma patients by Warren, H Shaw, Elson, Constance M, Hayden, Douglas L, Schoenfeld, David A, Cobb, J Perren, Maier, Ronald V, Moldawer, Lyle L, Moore, Ernest E, Harbrecht, Brian G, Pelak, Kimberly, Cuschieri, Joseph, Herndon, David N, Jeschke, Marc G, Finnerty, Celeste C, Brownstein, Bernard H, Hennessy, Laura, Mason, Philip H, Tompkins, Ronald G

“…Traumatic injuries frequently lead to infection, organ failure, and death. Health care providers rely on several injury scoring systems to quantify the extent…”
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Abstract A208: Mutation detection in FFPE and plasma circulating DNA with a focused ALK-EGFR-KRAS Next-Generation Sequencing panel by Fang, Peng, Darwanto, Agus, Yan, Zhenyu, Liu, Weihua, Pelak, Kimberly, Kristof, Jessica, Mack, Philip C., Sankar, Sabita, Galderisi, Chad, Li, Jin

“…Background: Mutations in ALK, EGFR and KRAS have well-established or anticipated clinical utility in predicting response to targeted therapies either approved…”
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Genome-Wide Analyses of HIV-1 Host Genetics by Pelak, Kimberly Elise

“…HIV has presented some of the greatest biomedical challenges in recent decades, and an understanding of how the virus behaves when it is in the human body is…”
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The Characterization of Twenty Sequenced Human Genomes: e1001111 by Pelak, Kimberly, Shianna, Kevin V, Ge, Dongliang, Maia, Jessica M, Zhu, Mingfu, Smith, Jason P, Cirulli, Elizabeth T, Fellay, Jacques, Dickson, Samuel P, Gumbs, Curtis E, Heinzen, Erin L, Need, Anna C, Ruzzo, Elizabeth K, Singh, Abanish, Campbell, C Ryan, Hong, Linda K, Lornsen, Katharina A, McKenzie, Alexander M, Sobreira, Nara LM, Hoover-Fong, Julie E, Milner, Joshua D, Ottman, Ruth, Haynes, Barton F, Goedert, James J, Goldstein, David B

“…We present the analysis of twenty human genomes to evaluate the prospects for identifying rare functional variants that contribute to a phenotype of interest…”
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