Хайлтын үр дүнгүүд - Scott Topper

  • 14-н 1 - 14 үр дүнгүүдийг харуулж байна
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  1. 1
    Exome sequencing and the genetics of intellectual disability

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

    Хэвлэсэн 2011
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    Revisão
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  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 -н Yuya Kobayashi, Shan Yang, Keith Nykamp, John Garcia, Stephen E. Lincoln, Scott Topper

    Хэвлэсэн 2017
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    Artigo
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  3. 3
    Sources of discordance among germ-line variant classifications in ClinVar

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

    Хэвлэсэн 2017
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    Artigo
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  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 -н M Violet Lee, Scott Topper, Shane L. Hubler, James Hose, Craig D. Wenger, Joshua J. Coon, Audrey P. Gasch

    Хэвлэсэн 2011
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    Artigo
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  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 -н Stephen E. Lincoln, Shan Yang, Melissa Cline, Yuya Kobayashi, Can Zhang, Scott Topper, David Haussler, Benedict Paten, Robert L. Nussbaum

    Хэвлэсэн 2017
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    Artigo
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  6. 6
    Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria

    Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria -н 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

    Хэвлэсэн 2017
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    Artigo
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  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 -н 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

    Хэвлэсэн 2019
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    Artigo
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  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 -н 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

    Хэвлэсэн 2015
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    Artigo
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  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 -н 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

    Хэвлэсэн 2022
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    Artigo
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  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 -н 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

    Хэвлэсэн 2018
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    Artigo
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  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 -н 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

    Хэвлэсэн 2022
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    Artigo
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  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 -н 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

    Хэвлэсэн 2022
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    Artigo
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  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 -н 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

    Хэвлэсэн 2023
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    Artigo
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  14. 14
    Genomic data in the All of Us Research Program

    Genomic data in the All of Us Research Program -н 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

    Хэвлэсэн 2024
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    Artigo
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