Výsledky vyhledávání - Scott Topper

  • Zobrazuji výsledky 1 - 14 z 14
Upřesnit hledání
  1. 1
    Exome sequencing and the genetics of intellectual disability

    Exome sequencing and the genetics of intellectual disability Autor Scott Topper, Carole Ober, Soma Das

    Vydáno 2011
    Získat plný text
    Revisão
    Přidat do oblíbených
    Uloženo v:
  2. 2
    Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation

    Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation Autor Yuya Kobayashi, Shan Yang, Keith Nykamp, John Garcia, Stephen E. Lincoln, Scott Topper

    Vydáno 2017
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  3. 3
    Sources of discordance among germ-line variant classifications in ClinVar

    Sources of discordance among germ-line variant classifications in ClinVar Autor Shan Yang, Stephen E. Lincoln, Yuya Kobayashi, Keith Nykamp, Robert L. Nussbaum, Scott Topper

    Vydáno 2017
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  4. 4
    A dynamic model of proteome changes reveals new roles for transcript alteration in yeast

    A dynamic model of proteome changes reveals new roles for transcript alteration in yeast Autor M Violet Lee, Scott Topper, Shane L. Hubler, James Hose, Craig D. Wenger, Joshua J. Coon, Audrey P. Gasch

    Vydáno 2011
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  5. 5
    Consistency of<i>BRCA1</i>and<i>BRCA2</i>Variant Classifications Among Clinical Diagnostic Laboratories

    Consistency of<i>BRCA1</i>and<i>BRCA2</i>Variant Classifications Among Clinical Diagnostic Laboratories Autor Stephen E. Lincoln, Shan Yang, Melissa Cline, Yuya Kobayashi, Can Zhang, Scott Topper, David Haussler, Benedict Paten, Robert L. Nussbaum

    Vydáno 2017
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  6. 6
    Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

    Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria Autor Keith Nykamp, Michael J. Anderson, Martin P. Powers, John Garcia, Blanca Herrera, Yuan-Yuan Ho, Yuya Kobayashi, Nila Patil, Janita Thusberg, M. Jody Westbrook, The Invitae Clinical Genomics Group, Scott Topper

    Vydáno 2017
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  7. 7
    Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines

    Multi-Gene Panel Testing of 23,179 Individuals for Hereditary Cancer Risk Identifies Pathogenic Variant Carriers Missed by Current Genetic Testing Guidelines Autor Cynthia L. Neben, Anjali D. Zimmer, Will Stedden, Jeroen van den Akker, Robert O’Connor, Raymond C. Chan, Elaine Chen, Zheng Tan, Annette Leon, J Ji, Scott Topper, Alicia Y. Zhou

    Vydáno 2019
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  8. 8
    Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect

    Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect Autor Cas Simons, Laurie B. Griffin, Guy Helman, Gretchen Golas, Amy Pizzino, Miriam Bloom, Jennifer L. Murphy, Joanna Crawford, Sarah Helen Evans, Scott Topper, Matthew T. Whitehead, John M. Schreiber, Kimberly A. Chapman, Cyndi Tifft, Katrina B. Lu, Howard Gamper, Megumi Shigematsu, Ryan J. Taft, Anthony Antonellis, Ya‐Ming Hou, Adeline Vanderver

    Vydáno 2015
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  9. 9
    Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program

    Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program Autor Eric Venner, Donna M. Muzny, Joshua D. Smith, Kimberly Walker, Cynthia L. Neben, Christina M. Lockwood, Phillip E. Empey, Ginger Metcalf, Chris Kachulis, Shahzad I. Mian, Anjene Musick, Heidi L. Rehm, Steven M. Harrison, Stacey Gabriel, Richard A. Gibbs, Deborah A. Nickerson, Alicia Y. Zhou, Kimberly F. Doheny, Bradley A. Ozenberger, Scott Topper, Niall J. Lennon

    Vydáno 2022
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  10. 10
    Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach

    Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach Autor Steven M. Harrison, Jill Dolinksy, Wenjie Chen, Christin Collins, Soma Das, Joshua L. Deignan, Kathryn B. Garber, John Garcia, Olga Jarinova, Amy E. Knight Johnson, Juha Koskenvuo, Hane Lee, Rong Mao, Rebecca Mar‐Heyming, Andrew McFaddin, Krista Moyer, Narasimhan Nagan, Stefan Rentas, Avni Santani, Eija H. Seppälä, Brian H. Shirts, Timothy Tidwell, Scott Topper, Lisa M. Vincent, Kathy M. B. Vinette, Heidi L. Rehm

    Vydáno 2018
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  11. 11
    Predominance of antibody-resistant SARS-CoV-2 variants in vaccine breakthrough cases from the San Francisco Bay Area, California

    Predominance of antibody-resistant SARS-CoV-2 variants in vaccine breakthrough cases from the San Francisco Bay Area, California Autor Venice Servellita, Mary Kate Morris, Alicia Sotomayor-González, Amelia S. Gliwa, Erika Elizabeth Rodríguez‐Torres, Noah Brazer, Alicia Y. Zhou, Katherine Hernandez, Madeline Sankaran, Baolin Wang, Daniel Wong, Candace Wang, Yueyuan Zhang, Kevin Reyes, Dustin R. Glasner, Xianding Deng, Jessica Streithorst, Steve Miller, Edwin C. Frias, Mary A. Rodgers, Gavin Cloherty, John Hackett, Carl V. Hanson, Debra A. Wadford, Susan Philip, Scott Topper, Darpun Sachdev, Charles Y. Chiu

    Vydáno 2022
    Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  12. 12
    Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria

    Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria Autor Vikas Pejaver, Alicia B. Byrne, Bing Feng, Kymberleigh A. Pagel, Sean D. Mooney, Rachel Karchin, Anne O’Donnell‐Luria, Steven M. Harrison, Sean V. Tavtigian, Marc S. Greenblatt, Leslie G. Biesecker, Predrag Radivojac, Steven E. Brenner, Leslie G. Biesecker, Steven M. Harrison, Ahmad Abou Tayoun, Jonathan S. Berg, Steven E. Brenner, Garry R. Cutting, Sian Ellard, Marc S. Greenblatt, Peter B. Kang, Izabela Karbassi, Rachel Karchin, Jessica L. Mester, Anne O’Donnell‐Luria, Tina Pesaran, Sharon E. Plon, Heidi L. Rehm, Natasha T. Strande, Sean V. Tavtigian, Scott Topper

    Vydáno 2022
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  13. 13
    Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup

    Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup Autor Logan C. Walker, Miguel de la Hoya, George A. R. Wiggins, Amanda Lindy, Lisa M. Vincent, Michael T. Parsons, Daffodil M. Canson, Dana M. Bis‐Brewer, Ashley Cass, Alexander Tchourbanov, Heather Zimmermann, Alicia B. Byrne, Tina Pesaran, Rachid Karam, Steven M. Harrison, Amanda B. Spurdle, Leslie G. Biesecker, Steven M. Harrison, Ahmad Abou Tayoun, Jonathan S. Berg, Steven E. Brenner, Garry R. Cutting, Sian Ellard, Marc S. Greenblatt, Peter B. Kang, Izabela Karbassi, Rachel Karchin, Jessica L. Mester, Anne O’Donnell‐Luria, Tina Pesaran, Sharon E. Plon, Heidi L. Rehm, Natasha T. Strande, Sean V. Tavtigian, Scott Topper

    Vydáno 2023
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:
  14. 14
    Genomic data in the All of Us Research Program

    Genomic data in the All of Us Research Program Autor Alexander G. Bick, Ginger Metcalf, Kelsey Mayo, Lee Lichtenstein, Shimon Rura, Robert J. Carroll, Anjene Musick, Jodell E. Linder, I. King Jordan, Shashwat Deepali Nagar, Shivam Sharma, Robert Meller, Melissa Basford, Eric Boerwinkle, Mine Cicek, Kimberly F. Doheny, Evan E. Eichler, Stacey Gabriel, Richard A. Gibbs, David Glazer, Paul A. Harris, Gail P. Jarvik, Anthony Philippakis, Heidi L. Rehm, Dan M. Roden, Stephen N. Thibodeau, Scott Topper, Ashley L. Blegen, Samantha J. Wirkus, Victoria A. Wagner, Jeffrey G. Meyer, Mine Cicek, Donna M. Muzny, Eric Venner, Michelle Mawhinney, Sean Griffith, Elvin Hsu, Hua Ling, Marcia K. Adams, Kimberly Walker, Taobo Hu, HarshaVardhan Doddapaneni, Christie Kovar, Mullai Murugan, Shannon Dugan, Ziad Khan, Eric Boerwinkle, Niall J. Lennon, Christina Austin‐Tse, Eric Banks, Michael Gatzen, Namrata Gupta, Emma Henricks, Katie Larsson, Sheli McDonough, Steven M. Harrison, Christopher Kachulis, Matthew S. Lebo, Cynthia L. Neben, Marcie Steeves, Alicia Y. Zhou, Joshua D. Smith, Christian D. Frazar, Colleen Davis, Karynne Patterson, Marsha M. Wheeler, Sean McGee, Christina M. Lockwood, Brian H. Shirts, Colin C. Pritchard, Mitzi L. Murray, Valeria Vasta, Dru F. Leistritz, M Richardson, Jillian G. Buchan, Aparna Radhakrishnan, Niklas Krumm, Brenna Ehmen, Sophie Schwartz, M. Morgan T. Aster, Kristian Cibulskis, Andrea Haessly, Rebecca Asch, Aurora Cremer, Kylee Degatano, Akum Shergill, Laura D. Gauthier, Samuel K. Lee, Aaron Hatcher, George Grant, Genevieve R. Brandt, Miguel Covarrubias, Eric Banks, Ashley Able, Ashley E. Green, Robert J. Carroll, Jennifer Zhang, Henry Robert Condon, Y. Wang, Moira K. Dillon

    Vydáno 2024
    Získat plný text Získat plný text
    Artigo
    Přidat do oblíbených
    Uloženo v:

Vyhledávací nástroje: