תוצאות חיפוש - Shashikant Kulkarni

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  1. 1
    Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing

    Mouse dyskerin mutations affect accumulation of telomerase RNA and small nucleolar RNA, telomerase activity, and ribosomal RNA processing מאת Yuko Mochizuki, Jun He, Shashikant Kulkarni, Monica Bessler, Philip J. Mason

    יצא לאור 2004
    קבל טקסט מלא
    Artigo
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  2. 2
    Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita

    Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita מאת Matt Knudson, Shashikant Kulkarni, Zuhair K. Ballas, Monica Bessler, Frederick D. Goldman

    יצא לאור 2004
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    Artigo
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  3. 3
    Flap Endonuclease 1 Contributes to Telomere Stability

    Flap Endonuclease 1 Contributes to Telomere Stability מאת Abhishek Saharia, Lionel Guittat, Sandra Crocker, Adeline Lim, Martín Steffen, Shashikant Kulkarni, Sheila A. Stewart

    יצא לאור 2008
    קבל טקסט מלא
    Artigo
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  4. 4
    Disruption of chromodomain helicase DNA binding protein 2 (<i>CHD2</i>) causes scoliosis

    Disruption of chromodomain helicase DNA binding protein 2 (<i>CHD2</i>) causes scoliosis מאת Shashikant Kulkarni, Prabakaran Nagarajan, Jonathan S. Wall, Diana Donovan, Robert L. Donell, Azra H. Ligon, Sundaresan Venkatachalam, Bradley J. Quade

    יצא לאור 2008
    קבל טקסט מלא
    Artigo
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  5. 5
    The effect of <i>TERC</i> haploinsufficiency on the inheritance of telomere length

    The effect of <i>TERC</i> haploinsufficiency on the inheritance of telomere length מאת Fred Goldman, Rachida Bouarich, Shashikant Kulkarni, SARA FREEMAN, Hongyan Du, Lea Harrington, Philip J. Mason, Arturo Londoño‐Vallejo, Monica Bessler

    יצא לאור 2005
    קבל טקסט מלא
    Artigo
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  6. 6
    Detection of FLT3 Internal Tandem Duplication in Targeted, Short-Read-Length, Next-Generation Sequencing Data

    Detection of FLT3 Internal Tandem Duplication in Targeted, Short-Read-Length, Next-Generation Sequencing Data מאת David H. Spencer, Haley Abel, Christina M. Lockwood, Jacqueline E. Payton, Philippe Szankasi, Todd W. Kelley, Shashikant Kulkarni, John D. Pfeifer, Eric J. Duncavage

    יצא לאור 2012
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    Artigo
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  7. 7
    The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic

    The Medical Genome Initiative: moving whole-genome sequencing for rare disease diagnosis to the clinic מאת Christian R. Marshall, David Bick, John W. Belmont, Stacie L. Taylor, Euan A. Ashley, David Dimmock, Vaidehi Jobanputra, Hutton M. Kearney, Shashikant Kulkarni, Heidi L. Rehm

    יצא לאור 2020
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    Artigo
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  8. 8
    Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer

    Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer מאת Marilyn M. Li, Michael Datto, Eric J. Duncavage, Shashikant Kulkarni, Neal I. Lindeman, Somak Roy, Apostolia M. Tsimberidou, Cindy L. Vnencak‐Jones, Daynna J. Wolff, Anas Younes, Marina N. Nikiforova

    יצא לאור 2016
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    Revisão
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  9. 9
    Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders

    Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders מאת Kristen Wigby, Deanna Brockman, Gregory Costain, Caitlin L. Hale, Stacie L. Taylor, John W. Belmont, David Bick, David Dimmock, Susan Fernbach, John M. Greally, Vaidehi Jobanputra, Shashikant Kulkarni, Elizabeth Spiteri, Ryan J. Taft

    יצא לאור 2024
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    Artigo
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  10. 10
    A phase 1/2 study of chemosensitization with the CXCR4 antagonist plerixafor in relapsed or refractory acute myeloid leukemia

    A phase 1/2 study of chemosensitization with the CXCR4 antagonist plerixafor in relapsed or refractory acute myeloid leukemia מאת Geoffrey L. Uy, Michael P. Rettig, Ibraheem Motabi, Kyle McFarland, Kathryn Trinkaus, Lindsay Hladnik, Shashikant Kulkarni, Camille N. Abboud, Amanda F. Cashen, Keith Stockerl‐Goldstein, Ravi Vij, Peter Westervelt, John F. DiPersio

    יצא לאור 2012
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    Artigo
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  11. 11
    Novel translocations that disrupt the platelet‐derived growth factor receptor β (PDGFRB) gene in BCR–ABL‐negative chronic myeloproliferative disorders

    Novel translocations that disrupt the platelet‐derived growth factor receptor β (PDGFRB) gene in BCR–ABL‐negative chronic myeloproliferative disorders מאת E. Joanna Baxter, Shashikant Kulkarni, J.L. Vizmanos, R J Jaju, Giovanni Martinelli, Nicoletta Testoni, George S. Hughes, Zoryana Salamanchuk, Marı́a José Calasanz, Idoya Lahortiga, Christopher Pocock, Raymond Dang, Carrie Fidler, James S. Wainscoat, Jacqueline Boultwood, Nicholas C.P. Cross

    יצא לאור 2003
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    Artigo
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  12. 12
    Dosage Effects of Cohesin Regulatory Factor PDS5 on Mammalian Development: Implications for Cohesinopathies

    Dosage Effects of Cohesin Regulatory Factor PDS5 on Mammalian Development: Implications for Cohesinopathies מאת Zhang, Bin, Chang, Jufang, Fu, Ming, Huang, Jie, Kashyap, Rakesh, Salavaggione, Ezequiel, Jain, Sanjay, Shashikant, Kulkarni, Deardorff, Matthew A., Uzielli, Maria L. Giovannucci, Dorsett, Dale, Beebe, David C., Jay, Patrick Y., Heuckeroth, Robert O., Krantz, Ian, Milbrandt, Jeffrey

    יצא לאור 2009
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    Text
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  13. 13
    Genomic analysis of mycosis fungoides and Sézary syndrome identifies recurrent alterations in TNFR2

    Genomic analysis of mycosis fungoides and Sézary syndrome identifies recurrent alterations in TNFR2 מאת Alexander Ungewickell, Aparna Bhaduri, Eon J. Rios, Jason Reuter, Carolyn Lee, Angela Mah, Ashley Zehnder, Robert S. Ohgami, Shashikant Kulkarni, Randall Armstrong, Wen-Kai Weng, Dita Gratzinger, Mahkam Tavallaee, Alain H. Rook, M Snyder, Hyun Soo Kim, Paul A. Khavari

    יצא לאור 2015
    קבל טקסט מלא
    Artigo
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  14. 14
    Somatic cancer variant curation and harmonization through consensus minimum variant level data

    Somatic cancer variant curation and harmonization through consensus minimum variant level data מאת Deborah Ritter, Sameek Roychowdhury, Angshumoy Roy, Shruti Rao, Melissa Landrum, Dmitriy Sonkin, Mamatha Shekar, Caleb Davis, Reece K. Hart, Christine Micheel, Meredith Weaver, Eliezer M. Van Allen, D. Williams Parsons, Howard L. McLeod, Michael S. Watson, Sharon E. Plon, Shashikant Kulkarni, Subha Madhavan

    יצא לאור 2016
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    Artigo
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  15. 15
    Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes

    Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes מאת Michael F. Walsh, Deborah Ritter, Chimene Kesserwan, Dmitriy Sonkin, Debyani Chakravarty, Elizabeth Chao, Rajarshi Ghosh, Yelena Kemel, Gang Wu, Kristy Lee, Shashikant Kulkarni, Dale J. Hedges, Diana Mandelker, Ozge Ceyhan‐Birsoy, Minjie Luo, Michael W. Drazer, Liying Zhang, Kenneth Offit, Sharon E. Plon

    יצא לאור 2018
    קבל טקסט מלא
    Artigo
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  16. 16
    Genomic heterogeneity of ALK fusion breakpoints in non-small-cell lung cancer

    Genomic heterogeneity of ALK fusion breakpoints in non-small-cell lung cancer מאת Jason N. Rosenbaum, Ryan J. Bloom, Jason T. Forys, Jeff Hiken, Jon R. Armstrong, Julie Branson, Samantha N. McNulty, Priya Velu, Kymberlie Pepin, Haley Abel, Catherine E. Cottrell, John D. Pfeifer, Shashikant Kulkarni, Ramaswamy Govindan, Eric Q. Konnick, Christina M. Lockwood, Eric J. Duncavage

    יצא לאור 2018
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    Artigo
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  17. 17
    Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

    Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease מאת Christian R. Marshall, Shimul Chowdhury, Ryan J. Taft, Matthew S. Lebo, Jillian G. Buchan, Steven M. Harrison, Ross Rowsey, Eric W. Klee, Pengfei Liu, Elizabeth A. Worthey, Vaidehi Jobanputra, David Dimmock, Hutton M. Kearney, David Bick, Shashikant Kulkarni, Stacie L. Taylor, John W. Belmont, Dimitri J. Stavropoulos, Niall J. Lennon

    יצא לאור 2020
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    Revisão
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  18. 18
    Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

    Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function מאת Alex R. Paciorkowski, Liu Lin Thio, Jill A. Rosenfeld, Marzena Gajęcka, Christina A. Gurnett, Shashikant Kulkarni, Wendy K. Chung, Eric D. Marsh, Mattia Gentile, James D. Reggin, James W. Wheless, Sandhya Balasubramanian, Ravinesh A. Kumar, Susan L. Christian, Carla Marini, Renzo Guerrini, Natalia Maltsev, Lisa G. Shaffer, William B. Dobyns

    יצא לאור 2011
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    Artigo
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  19. 19
    Best practices for the interpretation and reporting of clinical whole genome sequencing

    Best practices for the interpretation and reporting of clinical whole genome sequencing מאת Christina Austin‐Tse, Vaidehi Jobanputra, Denise Perry, David Bick, Ryan J. Taft, Eric Venner, Richard A. Gibbs, Edwin J. Young, Sarah Barnett, John W. Belmont, Nicole J. Boczek, Shimul Chowdhury, Katarzyna A. Ellsworth, Saurav Guha, Shashikant Kulkarni, Cherisse A. Marcou, Linyan Meng, David R. Murdock, Atteeq U. Rehman, Elizabeth Spiteri, Amanda Thomas‐Wilson, Hutton M. Kearney, Heidi L. Rehm

    יצא לאור 2022
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    Revisão
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  20. 20
    Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux

    Disruption of ROBO2 Is Associated with Urinary Tract Anomalies and Confers Risk of Vesicoureteral Reflux מאת Lu W, Albertien M. van Eerde, Xueping Fan, Fabiola Quintero‐Rivera, Shashikant Kulkarni, Heather Ferguson, Hyung‐Goo Kim, Yanli Fan, Qiongchao Xi, Qing-gang Li, Damien Sanlaville, William D. Andrews, Vasi Sundaresan, Weimin Bi, Jiong Yan, Jacques C. Giltay, Cisca Wijmenga, Tom P.V.M. de Jong, Sally Feather, Adrian S. Woolf, Yi Rao, James R. Lupski, Michael R. Eccles, Bradley J. Quade, James F. Gusella, Cynthia C. Morton, Richard L. Maas

    יצא לאור 2007
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    Artigo
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