检索结果 - Shimul Chowdhury

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  1. 1
    Maternal Genome-Wide DNA Methylation Patterns and Congenital Heart Defects

    Maternal Genome-Wide DNA Methylation Patterns and Congenital Heart Defects 由 Shimul Chowdhury, Stephen W. Erickson, Stewart L. MacLeod, Mario A. Cleves, Ping Hu, Mohammad A. Karim, Charlotte A. Hobbs

    出版 2011
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  2. 2
    Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses

    Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses 由 Kiely N. James, Michelle M. Clark, Brandon Camp, Cyrielle Kint, Peter Schols, Serge Batalov, Benjamin Briggs, Narayanan Veeraraghavan, Shimul Chowdhury, Stephen F. Kingsmore

    出版 2020
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  3. 3
    Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

    Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease 由 Nathaly M. Sweeney, Shareef Nahas, Shimul Chowdhury, Serge Batalov, Michelle M. Clark, Sara Caylor, Julie A. Cakici, John J. Nigro, Yan Ding, Narayanan Veeraraghavan, Charlotte A. Hobbs, David Dimmock, Stephen F. Kingsmore

    出版 2021
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  4. 4
    Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

    Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization 由 Lauge Farnaes, Amber Hildreth, Nathaly M. Sweeney, Michelle M. Clark, Shimul Chowdhury, Shareef Nahas, Julie A. Cakici, Wendy Benson, Robert H. Kaplan, Richard Kronick, Matthew N. Bainbridge, Jennifer Friedman, Jeffrey J. Gold, Yan Ding, Narayanan Veeraraghavan, David Dimmock, Stephen F. Kingsmore

    出版 2018
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  5. 5
    Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing

    Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing 由 Mallory Owen, Meredith S. Wright, Serge Batalov, Yong-Hyun Kwon, Yan Ding, Kevin Chau, Shimul Chowdhury, Nathaly M. Sweeney, Elizabeth Kiernan, Andrew Richardson, Emily Batton, Rebecca J. Baer, Gretchen Bandoli, Joseph G. Gleeson, Matthew N. Bainbridge, Christina Chambers, Stephen F. Kingsmore

    出版 2023
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  6. 6
    Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU*

    Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU* 由 Erica Sanford Kobayashi, Michelle M. Clark, Lauge Farnaes, Matthew R. Williams, James C. Perry, Elizabeth Ingulli, Nathaly M. Sweeney, Ami Doshi, Jeffrey J. Gold, Benjamin Briggs, Matthew N. Bainbridge, Michele Feddock, Kelly Watkins, Shimul Chowdhury, Shareef Nahas, David Dimmock, Stephen F. Kingsmore, Nicole G. Coufal

    出版 2019
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  7. 7
    Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing

    Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing 由 Jill L. Maron, Stephen F. Kingsmore, Kristen Wigby, Shimul Chowdhury, David Dimmock, Brenda B. Poindexter, Kristen Suhrie, Jerry Vockley, Thomas G. Diacovo, Bruce D. Gelb, Annemarie Stroustrup, Cynthia M. Powell, Andrea Trembath, Matthew Gallen, Thomas E. Mullen, Pranoot Tanpaiboon, Dallas Reed, Anne Kurfiss, Jonathan M. Davis

    出版 2021
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  8. 8
    Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit

    Cost Efficacy of Rapid Whole Genome Sequencing in the Pediatric Intensive Care Unit 由 Erica Sanford Kobayashi, Bryce Waldman, Branden M. Engorn, Katherine Perofsky, Erika T. Allred, Benjamin Briggs, C. Gatcliffe, Nanda Ramchandar, Jeffrey J. Gold, Ami Doshi, Elizabeth Ingulli, Courtney D. Thornburg, Wendy Benson, Lauge Farnaes, Shimul Chowdhury, Seema Rego, Charlotte A. Hobbs, Stephen F. Kingsmore, David Dimmock, Nicole G. Coufal

    出版 2022
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  9. 9
    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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  10. 10
    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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  11. 11
    Whole exome sequencing in patients with white matter abnormalities

    Whole exome sequencing in patients with white matter abnormalities 由 Adeline Vanderver, Cas Simons, Guy Helman, Joanna Crawford, Nicole I. Wolf, Geneviève Bernard, Amy Pizzino, Johanna Schmidt, Asako Takanohashi, David S. Miller, Amirah Khouzam, Vani Rajan, Erica Ramos, Shimul Chowdhury, Tina Hambuch, Kelin Ru, Gregory J. Baillie, Sean M. Grimmond, Ljubica Caldovic, Joseph M. Devaney, Miriam Bloom, Sarah Helen Evans, Jennifer L. Murphy, Nathan McNeill, Brent L. Fogel, Raphael Schiffmann, Marjo S. van der Knaap, Ryan J. Taft

    出版 2016
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  12. 12
    Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease

    Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease 由 Andrew M. Gross, Subramanian S. Ajay, Vani Rajan, Carolyn M. Brown, Krista Bluske, Nicole Burns, Aditi Chawla, Alison J. Coffey, Alka Malhotra, Alicia Scocchia, Erin Thorpe, Natasa Dzidic, Karine Hovanes, Trilochan Sahoo, Egor Dolzhenko, Bryan R. Lajoie, Amirah Khouzam, Shimul Chowdhury, John W. Belmont, Eric Roller, Sergii Ivakhno, Stephen Tanner, Julia McEachern, Tina Hambuch, Michael A. Eberle, R. Tanner Hagelstrom, David Bentley, Denise Perry, Ryan J. Taft

    出版 2018
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  13. 13
    One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

    One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation 由 Stephen E. Lincoln, Tina Hambuch, Justin M. Zook, Sara L. Bristow, Kathryn E. Hatchell, Rebecca Truty, Michael Kennemer, Brian H. Shirts, Andrew Fellowes, Shimul Chowdhury, Eric W. Klee, Shazia Mahamdallie, Megan H. Cleveland, Peter M. Vallone, Yan Ding, Sheila Seal, Wasanthi DeSilva, Farol L. Tomson, Catherine Huang, Russell Garlick, Nazneen Rahman, Marc Salit, Stephen F. Kingsmore, Matthew J. Ferber, Swaroop Aradhya, Robert L. Nussbaum

    出版 2021
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  14. 14
    Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy

    Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy 由 Jennifer Friedman, Desirée E.C. Smith, Mahmoud Y. Issa, Valentina Stanley, Rengang Wang, Marisa I. Mendes, Meredith S. Wright, Kristen Wigby, Amber Hildreth, John R. Crawford, Alanna E. Koehler, Shimul Chowdhury, Shareef Nahas, Liting Zhai, Zhiwen Xu, Wing‐Sze Lo, Kiely N. James, Damir Musaev, Andrea Accogli, Kether Guerrero, Luan T. Tran, Tarek Omar, Tawfeg Ben‐Omran, David Dimmock, Stephen F. Kingsmore, Gajja S. Salomons, Maha S. Zaki, Geneviève Bernard, Joseph G. Gleeson

    出版 2019
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  15. 15
    Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

    Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases 由 Francisco M. De La Vega, Shimul Chowdhury, Barry Moore, Erwin Frise, Jeanette McCarthy, Edgar J. Hernández, Terence C. Wong, Kiely N. James, Lucia Guidugli, Pankaj B. Agrawal, Casie A. Genetti, Catherine A. Brownstein, Alan H. Beggs, Britt-Sabina Löscher, André Franke, Braden Boone, Shawn Levy, Katrin Õunap, Sander Pajusalu, Matt Huentelman, Keri Ramsey, Marcus Naymik, Vinodh Narayanan, Narayanan Veeraraghavan, Paul R. Billings, Martin G. Reese, Mark Yandell, Stephen F. Kingsmore

    出版 2021
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  16. 16
    Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

    Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome 由 Mallory Owen, Anna‐Kaisa Niemi, David Dimmock, Mark Speziale, Mark Nespeca, Kevin Chau, Luca Van Der Kraan, Meredith S. Wright, Christian Holm Hansen, Narayanan Veeraraghavan, Yan Ding, Jerica Lenberg, Shimul Chowdhury, Charlotte A. Hobbs, Serge Batalov, Zhanyang Zhu, Shareef Nahas, Sheldon Gilmer, G. R. Knight, Sébastien Lefebvre, John Reynders, Thomas Defay, Jacqueline C. Weir, Vicki S. Thomson, Louise Fraser, Bryan R. Lajoie, Tim K McPhail, Shyamal Mehtalia, Chris M. Kunard, Kevin P. Hall, Stephen F. Kingsmore

    出版 2021
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  17. 17
    Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care

    Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children’s hospitals demonstrates improved clinical outcomes and reduced costs of care 由 David Dimmock, Sara Caylor, Bryce Waldman, Wendy Benson, Christina Ashburner, Jason Carmichael, Jeanne Carroll, Elaine Cham, Shimul Chowdhury, John P. Cleary, Arthur E. DʼHarlingue, Ashmi Doshi, Katarzyna A. Ellsworth, Carolina I. Galarreta, Charlotte A. Hobbs, Kathleen Houtchens, Juliette Hunt, Priscilla Joe, Maries Joseph, Robert H. Kaplan, Stephen F. Kingsmore, Jason Knight, Aaina Kochhar, Richard Kronick, Jolie Limon, Madelena Martin, Katherine A. Rauen, Adam J. Schwarz, Suma P. Shankar, Rosanna Spicer, Mario A. Rojas, Ofelia Vargas-Shiraishi, Kristen Wigby, Neda Zadeh, Lauge Farnaes

    出版 2021
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  18. 18
    Variant <i>STAT4</i> and Response to Ruxolitinib in an Autoinflammatory Syndrome

    Variant <i>STAT4</i> and Response to Ruxolitinib in an Autoinflammatory Syndrome 由 Hratch Baghdassarian, Sarah A. Blackstone, Gwendolyn Clay, Rachael L. Philips, Brynja Matthiasardottir, Michele Nehrebecky, Vivian K. Hua, Rachael N. McVicar, Yang Liu, Suzanne Tucker, Davide Randazzo, Natalie Deuitch, Sofia Rosenzweig, Adam Mark, Roman Šášik, Kathleen M. Fisch, Pallavi Pimpale Chavan, Elif Eren, Norman R. Watts, Chi A., Massimo Gadina, Daniella M. Schwartz, Anwesha Sanyal, Giffin Werner, David R. Murdock, Nobuyuki Horita, Shimul Chowdhury, David Dimmock, Kristen Jepsen, Elaine F. Remmers, Raphaela Goldbach‐Mansky, William A. Gahl, John J. O’Shea, Joshua D. Milner, Nathan E. Lewis, Johanna Chang, Daniel L. Kastner, Kathryn S. Torok, Hirotsugu Oda, Christopher D. Putnam, Lori Broderick

    出版 2023
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  19. 19
    Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation

    Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation 由 Michelle M. Clark, Amber Hildreth, Serge Batalov, Yan Ding, Shimul Chowdhury, Kelly Watkins, Katarzyna A. Ellsworth, Brandon Camp, Cyrielle Kint, Calum Yacoubian, Lauge Farnaes, Matthew N. Bainbridge, Curtis Beebe, Joshua J.A. Braun, Margaret Bray, Jeanne Carroll, Julie A. Cakici, Sara Caylor, Christina Clarke, Mitchell Creed, Jennifer Friedman, Alison Frith, Richard Gain, Mary Gaughran, Shauna George, Sheldon Gilmer, Joseph G. Gleeson, Jeremy Gore, Haiying Grunenwald, Raymond Hovey, M. Janes, Kejia Lin, Paul McDonagh, Kyle McBride, Patrick Mulrooney, Shareef Nahas, Daeheon Oh, Albert Oriol, Laura Puckett, Zia Rady, Martin G. Reese, Julie Ryu, Lisa Salz, Erica Sanford Kobayashi, Lawrence Stewart, Nathaly M. Sweeney, Mari Tokita, Luca Van Der Kraan, Sarah White, Kristen Wigby, Brett Williams, Terence C. Wong, Meredith S. Wright, Catherine Yamada, Peter Schols, John Reynders, Kevin P. Hall, David Dimmock, Narayanan Veeraraghavan, Thomas Defay, Stephen F. Kingsmore

    出版 2019
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  20. 20
    A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants

    A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants 由 Stephen F. Kingsmore, Julie A. Cakici, Michelle M. Clark, Mary Gaughran, Michele Feddock, Serge Batalov, Matthew N. Bainbridge, Jeanne Carroll, Sara Caylor, Christina Clarke, Yan Ding, Katarzyna A. Ellsworth, Lauge Farnaes, Amber Hildreth, Charlotte A. Hobbs, Kiely N. James, Cyrielle Kint, Jerica Lenberg, Shareef Nahas, Lawrence S. Prince, Iris Reyes, Lisa Salz, Erica Sanford Kobayashi, Peter Schols, Nathaly M. Sweeney, Mari Tokita, Narayanan Veeraraghavan, Kelly Watkins, Kristen Wigby, Terence C. Wong, Shimul Chowdhury, Meredith S. Wright, David Dimmock, Zaira Bezares, Cinnamon S. Bloss, Joshua J.A. Braun, Carlos Bustamante, Dana Mashburn, Dorjee G. Tamang, Daniken Orendain, Jenni Friedman, Joe Gleeson, Jaime Barea, George Chiang, Casey Cohenmeyer, Nicole G. Coufal, Marva Evans, Jose Honold, Raymond Hovey, Amy Kimball, Brian R. Lane, Crystal Le, Jennie Le, Sandra L. Leibel, Laurel Moyer, Patrick Mulrooney, Daeheon Oh, Paulina Ordonez, Albert Oriol, Maria Ortiz-Arechiga, Laura Puckett, Mark Speziale, Denise Suttner, Lucitia Van Der Kraan, G. R. Knight, Charles W. Sauer, Richard Song, Sarah White, Audra Wise, Catherine Yamada

    出版 2019
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