Search Results - "Oak, Ninad"

Evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines by Ghosh, Rajarshi, Oak, Ninad, Plon, Sharon E

“…The American College of Medical Genetics and American College of Pathologists (ACMG/AMP) variant classification guidelines for clinical reporting are widely…”
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Recent advances in Wilms' tumor predisposition by Maciaszek, Jamie L, Oak, Ninad, Nichols, Kim E

“…Wilms' tumor (WT), the most common childhood kidney cancer, develops in association with an underlying germline predisposition in up to 15% of cases. Germline…”
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Insights from the 2018 Biology of Genomes meeting by Oak, Ninad, Plon, Sharon E

“…A report on the Cold Spring Harbor Laboratory 31 annual meeting on the Biology of Genomes, held at Cold Spring Harbor, New York, USA, 8-12 May, 2018.The 2018…”
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Molecular basis of ETV6-mediated predisposition to childhood acute lymphoblastic leukemia by Nishii, Rina, Baskin-Doerfler, Rebekah, Yang, Wentao, Oak, Ninad, Zhao, Xujie, Yang, Wenjian, Hoshitsuki, Keito, Bloom, Mackenzie, Verbist, Katherine, Burns, Melissa, Li, Zhenhua, Lin, Ting-Nien, Qian, Maoxiang, Moriyama, Takaya, Gastier-Foster, Julie M., Rabin, Karen R., Raetz, Elizabeth, Mullighan, Charles, Pui, Ching-Hon, Yeoh, Allen Eng-Juh, Zhang, Jinghui, Metzger, Monika L., Klco, Jeffery M., Hunger, Stephen P., Newman, Scott, Wu, Gang, Loh, Mignon L., Nichols, Kim E., Yang, Jun J.

“…There is growing evidence supporting an inherited basis for susceptibility to acute lymphoblastic leukemia (ALL) in children. In particular, we and others…”
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Cellular and transcriptional impacts of Janus kinase and/or IFN-gamma inhibition in a mouse model of primary hemophagocytic lymphohistiocytosis by Albeituni, Sabrin, Oak, Ninad, Tillman, Heather S, Stroh, Alexa, Keenan, Camille, Bloom, Mackenzie, Nichols, Kim E

“…Primary hemophagocytic lymphohistiocytosis (pHLH) is an inherited inflammatory syndrome driven by the exuberant activation of interferon-gamma (IFNg)-producing…”
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Immune stress suppresses innate immune signaling in preleukemic precursor B-cells to provoke leukemia in predisposed mice by Isidro-Hernández, Marta, Casado-García, Ana, Oak, Ninad, Alemán-Arteaga, Silvia, Ruiz-Corzo, Belén, Martínez-Cano, Jorge, Mayado, Andrea, Sánchez, Elena G., Blanco, Oscar, Gaspar, Ma Luisa, Orfao, Alberto, Alonso-López, Diego, De Las Rivas, Javier, Riesco, Susana, Prieto-Matos, Pablo, González-Murillo, África, Criado, Francisco Javier García, Cenador, María Begoña García, Ramírez-Orellana, Manuel, de Andrés, Belén, Vicente-Dueñas, Carolina, Cobaleda, César, Nichols, Kim E., Sánchez-García, Isidro

“…The initial steps of B-cell acute lymphoblastic leukemia (B-ALL) development usually pass unnoticed in children. Several preclinical studies have shown that…”
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Genetic and epigenetic features of bilateral Wilms tumor predisposition in patients from the Children’s Oncology Group AREN18B5-Q by Murphy, Andrew J., Cheng, Changde, Williams, Justin, Shaw, Timothy I., Pinto, Emilia M., Dieseldorff-Jones, Karissa, Brzezinski, Jack, Renfro, Lindsay A., Tornwall, Brett, Huff, Vicki, Hong, Andrew L., Mullen, Elizabeth A., Crompton, Brian, Dome, Jeffrey S., Fernandez, Conrad V., Geller, James I., Ehrlich, Peter F., Mulder, Heather, Oak, Ninad, Maciezsek, Jamie, Jablonowski, Carolyn M., Fleming, Andrew M., Pichavaram, Prahalathan, Morton, Christopher L., Easton, John, Nichols, Kim E., Clay, Michael R., Santiago, Teresa, Zhang, Jinghui, Yang, Jun, Zambetti, Gerard P., Wang, Zhaoming, Davidoff, Andrew M., Chen, Xiang

“…Developing synchronous bilateral Wilms tumor suggests an underlying (epi)genetic predisposition. Here, we evaluate this predisposition in 68 patients using…”
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Germline landscape of RPA1, RPA2 and RPA3 variants in pediatric malignancies: identification of RPA1 as a novel cancer predisposition candidate gene by Sharma, Richa, Oak, Ninad, Chen, Wenan, Gogal, Rose, Kirschner, Martin, Beier, Fabian, Schnieders, Michael J., Spies, Maria, Nichols, Kim E., Wlodarski, Marcin

“…Replication Protein A (RPA) is single-strand DNA binding protein that plays a key role in the replication and repair of DNA. RPA is a heterotrimer made of 3…”
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Ancestry-specific predisposing germline variants in cancer by Oak, Ninad, Cherniack, Andrew D, Mashl, R Jay, Hirsch, Fred R, Ding, Li, Beroukhim, Rameen, Gümüş, Zeynep H, Plon, Sharon E, Huang, Kuan-Lin

“…Distinct prevalence of inherited genetic predisposition may partially explain the difference of cancer risks across ancestries. Ancestry-specific analyses of…”
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Analysis of germline-driven ancestry-associated gene expression in cancers by Chambwe, Nyasha, Sayaman, Rosalyn W., Hu, Donglei, Huntsman, Scott, Carrot-Zhang, Jian, Berger, Ashton C., Han, Seunghun, Meyerson, Matthew, Damrauer, Jeffrey S., Hoadley, Katherine A., Felau, Ina, Demchok, John A., Mensah, Michael K.A., Tarnuzzer, Roy, Wang, Zhining, Yang, Liming, Knijnenburg, Theo A., Robertson, A. Gordon, Yau, Christina, Benz, Christopher, Huang, Kuan-lin, Newberg, Justin Y., Frampton, Garrett M., Mashl, R. Jay, Ding, Li, Romanel, Alessandro, Demichelis, Francesca, Zhou, Wanding, Laird, Peter W., Shen, Hui, Wong, Christopher K., Stuart, Joshua M., Lazar, Alexander J., Le, Xiuning, Oak, Ninad, Kemal, Anab, Caesar-Johnson, Samantha, Zenklusen, Jean C., Ziv, Elad, Beroukhim, Rameen, Cherniack, Andrew D.

“…Differential mRNA expression between ancestry groups can be explained by both genetic and environmental factors. We outline a computational workflow to…”
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Analytical protocol to identify local ancestry-associated molecular features in cancer by Carrot-Zhang, Jian, Han, Seunghun, Zhou, Wanding, Damrauer, Jeffrey S., Kemal, Anab, Berger, Ashton C., Meyerson, Matthew, Hoadley, Katherine A., Felau, Ina, Caesar-Johnson, Samantha, Demchok, John A., Mensah, Michael K.A., Tarnuzzer, Roy, Wang, Zhining, Yang, Liming, Zenklusen, Jean C., Chambwe, Nyasha, Knijnenburg, Theo A., Robertson, A. Gordon, Yau, Christina, Benz, Christopher, Huang, Kuan-lin, Newberg, Justin, Frampton, Garret, Mashl, R. Jay, Ding, Li, Romanel, Alessandro, Demichelis, Francesca, Sayaman, Rosalyn W., Ziv, Elad, Laird, Peter W., Shen, Hui, Wong, Christopher K., Stuart, Joshua M., Lazar, Alexander J., Le, Xiuning, Oak, Ninad, Cherniack, Andrew D., Beroukhim, Rameen

“…People of different ancestries vary in cancer risk and outcome, and their molecular differences may indicate sources of these variations. Determining the…”
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Identification of ligand binding pockets on nuclear receptors by machine learning methods by Oak, Ninad, Jayaraman, V K

“…Nuclear receptors constitute a super family of protein hormones that serve as transcription factors. They typically reside in the cytosol and, after ligand…”
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Comprehensive Analysis of Genetic Ancestry and Its Molecular Correlates in Cancer by Carrot-Zhang, Jian, Chambwe, Nyasha, Damrauer, Jeffrey S., Knijnenburg, Theo A., Robertson, A. Gordon, Yau, Christina, Zhou, Wanding, Berger, Ashton C., Huang, Kuan-lin, Newberg, Justin Y., Mashl, R. Jay, Romanel, Alessandro, Sayaman, Rosalyn W., Demichelis, Francesca, Felau, Ina, Frampton, Garrett M., Han, Seunghun, Hoadley, Katherine A., Kemal, Anab, Laird, Peter W., Lazar, Alexander J., Le, Xiuning, Oak, Ninad, Shen, Hui, Wong, Christopher K., Zenklusen, Jean C., Ziv, Elad, Aguet, Francois, Ding, Li, Demchok, John A., Mensah, Michael K.A., Caesar-Johnson, Samantha, Tarnuzzer, Roy, Wang, Zhining, Yang, Liming, Alfoldi, Jessica, Karczewski, Konrad J., MacArthur, Daniel G., Meyerson, Matthew, Benz, Christopher, Stuart, Joshua M., Cherniack, Andrew D., Beroukhim, Rameen

“…We evaluated ancestry effects on mutation rates, DNA methylation, and mRNA and miRNA expression among 10,678 patients across 33 cancer types from The Cancer…”
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Differential Effects of JAK1 vs. JAK2 Inhibition in Mouse Models of Hemophagocytic Lymphohistiocytosis by Keenan, Camille, Albeituni, Sabrin, Oak, Ninad, Stroh, Alexa N, Tillman, Heather, Wang, Yingzhe, Freeman, Burgess B., Alemán-Arteaga, Silvia, Meyer, Lauren K., Woods, Rolanda, Verbist, Katherine C, Zhou, Yinmei, Cheng, Cheng, Nichols, Kim E

“…Hemophagocytic lymphohistiocytosis (HLH) comprises a severe hyperinflammatory phenotype driven by the overproduction of cytokines, many of which signal via the…”
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Differential effects of itacitinib, fedratinib, and ruxolitinib in mouse models of hemophagocytic lymphohistiocytosis by Keenan, Camille, Albeituni, Sabrin, Oak, Ninad, Stroh, Alexa, Tillman, Heather S., Wang, Yingzhe, Freeman, Burgess B., Alemán-Arteaga, Silvia, Meyer, Lauren K., Woods, Rolanda, Verbist, Katherine C., Zhou, Yinmei, Cheng, Cheng, Nichols, Kim E.

“…•At clinically-relevant doses, selective JAK1 and JAK2 inhibitors are well-tolerated and suppress IFN-γ–mediated STAT1 phosphorylation.•Selective JAK1 vs JAK2…”
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Prevalence and outcomes of cancer and treatment-associated toxicities for patients with Ataxia Telangiectasia by Magnarelli, Aimee, Liu, Qi, Wang, Fan, Peng, Xiao, Wright, Jennifer, Oak, Ninad, Natale, Valerie, Rothblum-Oviatt, Cynthia, Lefton-Greif, Maureen A., McGrath-Morrow, Sharon, Crawford, Thomas O., Ehrhardt, Matthew J., Lederman, Howard M., Sharma, Richa

“…[Display omitted] Ataxia Telangiectasia (A-T) is a DNA repair disorder with cancer predisposition. Characterize the prevalence and outcomes of hematologic and…”
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ETV6 Represses TNF during Stress Hematopoiesis and Regulates HSC Self Renewal by Bloom, Mackenzie, Baskin-Doerfler, Rebekah, Oak, Ninad, Feng, Ruopeng, Zhao, Xujie, Li, Chunliang, Ozark, Patrick, Verbist, Katherine, Stroh, Alexa, Albeituni, Sabrin, Maise, JaQuel, Weiss, Mitchell J., McKinney-Freeman, Shannon, Yang, Jun J.J., Nichols, Kim E.

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Pathogenic Variants in Adult-Onset Cancer Predisposition Genes in Pediatric Cancer: Prevalence and Impact on Tumor Molecular Features and Clinical Management by McGee, Rose B, Oak, Ninad, Harrison, Lynn, Xu, Ke, Nuccio, Regina, Blake, Alise K, Mostafavi, Roya, Lewis, Sara, Taylor, Leslie M, Kubal, Manish, Ouma, Annastasia, Hines-Dowell, Stacy J, Cheng, Cheng, Furtado, Larissa V, Nichols, Kim E

“…Clinical genomic sequencing of pediatric tumors is increasingly uncovering pathogenic variants in adult-onset cancer predisposition genes (aoCPG)…”
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Cover Image, Volume 40, Issue 1 by Oak, Ninad, Ghosh, Rajarshi, Huang, Kuan-lin, Wheeler, David A., Ding, Li, Plon, Sharon E.

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Variants in IGLL1 cause a broad phenotype from agammaglobulinemia to transient hypogammaglobulinemia by Soomann, Maarja, Bily, Viktor, Elgizouli, Magdeldin, Kraemer, Dennis, Akgül, Gülfirde, von Bernuth, Horst, Bloomfield, Markéta, Brodszki, Nicholas, Candotti, Fabio, Förster-Waldl, Elisabeth, Freiberger, Tomas, Giżewska, Maria, Klocperk, Adam, Kölsch, Uwe, Nichols, Kim E., Krüger, Renate, Oak, Ninad, Pac, Małgorzata, Prader, Seraina, Schmiegelow, Kjeld, Šedivá, Anna, Sogkas, Georgios, Stittrich, Anna, Stoltze, Ulrik Kristoffer, Theodoropoulou, Katerina, Wadt, Karin, Wong, Melanie, Zeyda, Maximillian, Pachlopnik Schmid, Jana, Trück, Johannes

“…[Display omitted] Agammaglobulinemia due to variants in IGLL1 has traditionally been considered an exceedingly rare form of severe B-cell deficiency, with only…”
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