检索结果 - Vaidehi Jobanputra

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  1. 1
    Indolent Small Intestinal CD4+ T-cell Lymphoma Is a Distinct Entity with Unique Biologic and Clinical Features

    Indolent Small Intestinal CD4+ T-cell Lymphoma Is a Distinct Entity with Unique Biologic and Clinical Features 由 Elizabeth Margolskee, Vaidehi Jobanputra, Suzanne K. Lewis, Bachir Alobeid, Peter H.R. Green, Govind Bhagat

    出版 2013
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  2. 2
    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 由 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

    出版 2020
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  3. 3
    Genetic landscape of T- and NK-cell post-transplant lymphoproliferative disorders

    Genetic landscape of T- and NK-cell post-transplant lymphoproliferative disorders 由 Elizabeth Margolskee, Vaidehi Jobanputra, Preti Jain, Jinli Chen, Karthik A. Ganapathi, Odelia Nahum, Brynn Levy, Julie Morscio, Vundavalli V. Murty, Thomas Tousseyn, Bachir Alobeid, Mahesh Mansukhani, Govind Bhagat

    出版 2016
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  4. 4
    Deep whole-genome sequencing of 3 cancer cell lines on 2 sequencing platforms

    Deep whole-genome sequencing of 3 cancer cell lines on 2 sequencing platforms 由 Kanika Arora, Minita Shah, Molly Johnson, Rashesh Sanghvi, Jennifer M. G. Shelton, Kshithija Nagulapalli, Dayna M. Oschwald, Michael C. Zody, Søren Germer, Vaidehi Jobanputra, Jade Carter, Nicolas Robine

    出版 2019
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  5. 5
    Impact of Receiving Secondary Results from Genomic Research: A 12-Month Longitudinal Study

    Impact of Receiving Secondary Results from Genomic Research: A 12-Month Longitudinal Study 由 Julia, Wynn, Josue, Martinez, Bulafka, Jessica, Jimmy, Duong, Yuan, Zhang, Codruta, Chiuzan, Preti, Jain, Cremona Maria, L, Vaidehi, Jobanputra, Fyer Abby, J, Klitzman Robert, L, Appelbaum Paul, S, Chung Wendy, K

    出版 2017
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  6. 6
    Clinical utility of genomic sequencing: a measurement toolkit

    Clinical utility of genomic sequencing: a measurement toolkit 由 Robin Z. Hayeems, David Dimmock, David Bick, John W. Belmont, Robert C. Green, Brendan C. Lanpher, Vaidehi Jobanputra, Roberto Mendoza‐Londono, Shashi Kulkarni, Megan E. Grove, Stacie L. Taylor, Euan A. Ashley

    出版 2020
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  7. 7
    Analytical demands to use whole-genome sequencing in precision oncology

    Analytical demands to use whole-genome sequencing in precision oncology 由 Manja Meggendorfer, Vaidehi Jobanputra, Kazimierz O. Wrzeszczyński, Paul Roepman, Ewart de Bruijn, Edwin Cuppen, Reinhard Büttner, Carlos Caldas, Sean M. Grimmond, Charles G. Mullighan, Olivier Elemento, Richard Rosenquist, Anna Schuh, Torsten Haferlach

    出版 2021
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  8. 8
    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 由 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

    出版 2024
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  9. 9
    The oncocytic subtype is genetically distinct from other pancreatic intraductal papillary mucinous neoplasm subtypes

    The oncocytic subtype is genetically distinct from other pancreatic intraductal papillary mucinous neoplasm subtypes 由 Olca Baştürk, Marcus Tan, Umesh Bhanot, Peter J. Allen, Volkan Adsay, Sasinya N. Scott, Ronak Shah, Michael F. Berger, Gokce Askan, Esra Dikoglu, Vaidehi Jobanputra, Kazimierz O. Wrzeszczyński, Carlie Sigel, Christine A. Iacobuzio‐Donahue, David S. Klimstra

    出版 2016
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  10. 10
    The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease

    The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left hear... 由 Dorothy Warburton, Michael Ronemus, Jennie Kline, Vaidehi Jobanputra, Ismee Williams, Kwame Anyane‐Yeboa, Wendy K. Chung, Lan Yu, Nancy Wong, Danielle Awad, Chih‐Yu Yu, Anthony Leotta, Jude Kendall, Boris Yamrom, Yoon-ha Lee, Michael Wigler, Dan Levy

    出版 2013
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  11. 11
    Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease

    Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease 由 Thomas Hays, Rebecca Hernan, Michele Disco, Emily Griffin, Nimrod Goldshtrom, Diana Vargas, Ganga Krishnamurthy, Miles Bomback, Atteeq U. Rehman, Amanda Thomas‐Wilson, Saurav Guha, Shruti Phadke, Volkan Okur, Dino Robinson, Vanessa Felice, Avinash Abhyankar, Vaidehi Jobanputra, Wendy K. Chung

    出版 2023
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  12. 12
    Position effect on <i>FGF13</i> associated with X-linked congenital generalized hypertrichosis

    Position effect on <i>FGF13</i> associated with X-linked congenital generalized hypertrichosis 由 Gina M. DeStefano, Katherine A. Fantauzzo, Lynn Petukhova, Mazen Kurban, Marija Tadin‐Strapps, Brynn Levy, Dorothy Warburton, Elizabeth T. Cirulli, Yujun Han, Xiaoyun Sun, Yufeng Shen, Maryam Shirazi, Vaidehi Jobanputra, Rodrigo Cepeda‐Valdes, Julio C. Salas‐Alanís, Angela M. Christiano

    出版 2013
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  13. 13
    Indel variant analysis of short-read sequencing data with Scalpel

    Indel variant analysis of short-read sequencing data with Scalpel 由 Han Fang, Ewa A. Bergmann, Kanika Arora, Vladimir Vacic, Michael C. Zody, Ivan Iossifov, Jason O'Rawe, Yiyang Wu, Laura T. Jiménez Barrón, Julie Rosenbaum, Michael Ronemus, Yoon-ha Lee, Zihua Wang, Esra Dikoglu, Vaidehi Jobanputra, Gholson J. Lyon, Michael Wigler, Michael C. Schatz, Giuseppe Narzisi

    出版 2016
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  14. 14
    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 由 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

    出版 2020
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  15. 15
    Mutations in the Cholesterol Transporter Gene ABCA5 Are Associated with Excessive Hair Overgrowth

    Mutations in the Cholesterol Transporter Gene ABCA5 Are Associated with Excessive Hair Overgrowth 由 Gina M. DeStefano, Mazen Kurban, Kwame Anyane‐Yeboa, Claudia Dall’Armi, Gilbert Di Paolo, Heather Feenstra, Nanette B. Silverberg, Luis Rohena, Larissa Dorina López-Cepeda, Vaidehi Jobanputra, Katherine A. Fantauzzo, Maija Kiuru, Marija Tadin‐Strapps, Antonio Sobrino, Anna Vitebsky, Dorothy Warburton, Brynn Levy, Julio C. Salas‐Alanís, Angela M. Christiano

    出版 2014
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  16. 16
    Implementation of Whole-Genome and Transcriptome Sequencing Into Clinical Cancer Care

    Implementation of Whole-Genome and Transcriptome Sequencing Into Clinical Cancer Care 由 Edwin Cuppen, Olivier Elemento, Richard Rosenquist, S Nikić, Maarten J. IJzerman, Isabelle Durand‐Zaleski, Geert Frederix, Lars‐Åke Levin, Charles G. Mullighan, Reinhard Buettner, Trevor J. Pugh, Sean M. Grimmond, Carlos Caldas, Fabrice André, Ilse Custers, Elı́as Campo, Hans van Snellenberg, Anna Schuh, Hidewaki Nakagawa, Christof von Kalle, Torsten Haferlach, Stefan Fröhling, Vaidehi Jobanputra

    出版 2022
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  17. 17
    Best practices for the interpretation and reporting of clinical whole genome sequencing

    Best practices for the interpretation and reporting of clinical whole genome sequencing 由 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

    出版 2022
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  18. 18
    Pancreatic intraductal tubulopapillary neoplasm is genetically distinct from intraductal papillary mucinous neoplasm and ductal adenocarcinoma

    Pancreatic intraductal tubulopapillary neoplasm is genetically distinct from intraductal papillary mucinous neoplasm and ductal adenocarcinoma 由 Olca Baştürk, Michael F. Berger, Hiroshi Yamaguchi, Volkan Adsay, Gokce Askan, Umesh Bhanot, Ahmet Zehir, Fátima Carneiro, Seung‐Mo Hong, Giuseppe Zamboni, Esra Dikoglu, Vaidehi Jobanputra, Kazimierz O. Wrzeszczyński, Serdar Balcı, Peter J. Allen, Naoki Ikari, Shoko Takeuchi, Hiroyuki Akagawa, Atsushi Kanno, Tooru Shimosegawa, Takanori Morikawa, Fuyuhiko Motoi, Michiaki Unno, Ryota Higuchi, Masakazu Yamamoto, Kyoko Shimizu, Toru Furukawa, David S. Klimstra

    出版 2017
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  19. 19
    Strong Association of De Novo Copy Number Mutations with Autism

    Strong Association of De Novo Copy Number Mutations with Autism 由 Jonathan Sebat, B. Lakshmi, Dheeraj Malhotra, Jennifer Troge, Christa Lese‐Martin, Tom Walsh, Boris Yamrom, Seungtai Yoon, A. Krasnitz, Jude Kendall, Anthony Leotta, Deepa Pai, Ray Zhang, Yoonha Lee, James Hicks, Sarah Spence, Annette T. Lee, Kaija Puura, Terho Lehtimäki, David H. Ledbetter, Peter K. Gregersen, Joel D. Bregman, James S. Sutcliffe, Vaidehi Jobanputra, Wendy K. Chung, Dorothy Warburton, Mary‐Claire King, David Skuse, Daniel H. Geschwind, T. Conrad Gilliam, Kenny Ye, Michael Wigler

    出版 2007
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  20. 20
    Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study

    Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study 由 Emily Griffin, Shannon N. Nees, Sarah U. Morton, Julia Wynn, Nihir Patel, Vaidehi Jobanputra, Scott Robinson, Stephanie M. Kochav, Alice Tao, Carli Andrews, Nancy Cross, Judith Geva, Kristen Lanzilotta, Alyssa Ritter, Eileen Taillie, Alexandra Thompson, Chris Meyer, Rachel Akers, Eileen King, James F. Cnota, Richard W. Kim, George A. Porter, Martina Brueckner, Christine E. Seidman, Yufeng Shen, Bruce D. Gelb, Elizabeth Goldmuntz, Jane W. Newburger, Amy E. Roberts, Wendy K. Chung

    出版 2023
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