Search Results - Alicia B. Byrne

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  1. 1
    ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification

    ClinGen guidance for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification by Leslie G. Biesecker, Alicia B. Byrne, Steven M Harrison, Tina Pesaran, Alejandro A. Schäffer, Brian H. Shirts, Sean V Tavtigian, Heidi L Rehm

    Published 2023
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  2. 2
    Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations

    Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations by Sarah L. Stenton, Vikas Pejaver, Timothy Bergquist, Leslie G. Biesecker, Alicia B. Byrne, Emily A.W. Nadeau, Marc S. Greenblatt, Steven M. Harrison, Sean V. Tavtigian, Predrag Radivojac, Steven E. Brenner, Anne O’Donnell‐Luria

    Published 2024
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  3. 3
    Evidence-based calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for clinical use of PP3/BP4 criteria

    Evidence-based calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for clinical use of PP3/BP4 criteria by 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

    Published 2022
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  4. 4
    A rare splice-site variant in <i>TNNT2</i>: the need for ancestral diversity in genomic reference data sets

    A rare splice-site variant in <i>TNNT2</i>: the need for ancestral diversity in genomic reference data sets by Alexandra Butters, Kate Thomson, Franki Harrington, Natasha Henden, Karen McGuire, Alicia B. Byrne, Samantha J. Bryen, Kathryn A. McGurk, Megan Leask, Michael J. Ackerman, J. Atherton, J. Martijn Bos, Colleen Caleshu, Sharlene M. Day, Kyla Dunn, Ian Hayes, Jyh‐Ming Jimmy Juang, Julie McGaughran, N. Nowak, Victoria N. Parikh, Anne Ronan, Christopher Semsarian, Jil C. Tardiff, Marianne Tiemensma, Tony R. Merriman, James S. Ware, Jonathan R. Skinner, Daniel G. MacArthur, Owen M. Siggs, Richard D. Bagnall, Jodie Ingles

    Published 2025
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  5. 5
    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 by 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

    Published 2022
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  6. 6
    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 by 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

    Published 2023
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  7. 7
    The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

    The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships by Eleanor C Broeren, Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg, Krista Bluske, B.M. Bowen, Matthew P. Brown, Amanda Buchanan, Brendan Burns, Nicole Burns, Anjana Chandrasekhar, Aditi Chawla, Jessica X. Chong, Maya Chopra, Amanda Clause, Marina T. DiStefano, Stephanie DiTroia, Marwa Elnagheeb, Anne Girod, Himanshu Goel, Katie Golden‐Grant, Thuong Ha, Ada Hamosh, Jennifer Huang, Madeline Y. Hughes, Saumya Shekhar Jamuar, Sylvia Kam, Akanchha Kesari, Ai Ling Koh, Rhonda N.T. Lassiter, S. E. A. Leigh, Gabrielle Lemire, Jiin Ying Lim, Alka Malhotra, Hannah McCurry, Becky Milewski, Shahida Moosa, Stephen A. Murray, Emma Owens, Elizabeth E. Palmer, Brooke Palus, Mayher Patel, Revathi Rajkumar, Julie Ratliff, F. Lucy Raymond, Bruno Della Ripa Rodrigues Assis, Samin A. Sajan, Zinayida Schlachetzki, Sarah Schmidt, Zornitza Stark, Strom P Samuel, Julie P. Taylor, Courtney Thaxton, Devon Lamb Thrush, Sabrina Toro, Kezang Tshering, Nicole Vasilevsky, Bess Wayburn, Ryan Webb, Anne O’Donnell‐Luria, Alison J. Coffey

    Published 2024
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  8. 8
    The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

    The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships by Eleanor C Broeren, Vanessa Gitau, Alicia B. Byrne, Pamela Ajuyah, Marie Balzotti, Jonathan S. Berg, Krista Bluske, B.M. Bowen, Matthew P. Brown, Amanda Buchanan, Brendan Burns, Nicole Burns, Anjana Chandrasekhar, Aditi Chawla, Jessica X. Chong, Maya Chopra, Amanda Clause, Marina T. DiStefano, Stephanie DiTroia, Marwa Elnagheeb, Anne Girod, Himanshu Goel, Katie Golden‐Grant, Thuong Ha, Ada Hamosh, Jennifer M. Huang, Madeline Y. Hughes, Saumya Shekhar Jamuar, Sylvia Kam, Akanchha Kesari, Ai Ling Koh, Rhonda N.T. Lassiter, S. E. A. Leigh, Gabrielle Lemire, Jiin Ying Lim, Alka Malhotra, Hannah McCurry, Becky Milewski, Shahida Moosa, Stephen A. Murray, Emma Owens, Elizabeth E. Palmer, Brooke C. Palus, Mayher Patel, Revathi Rajkumar, Julie Ratliff, F. Lucy Raymond, Bruno Della Ripa Rodrigues Assis, Samin A. Sajan, Zinayida Schlachetzki, Sarah Schmidt, Zornitza Stark, Samuel P. Strom, Julie P. Taylor, Courtney Thaxton, Devon Lamb Thrush, Sabrina Toro, Kezang Tshering, Nicole Vasilevsky, Bess Wayburn, Ryan Webb, Anne O’Donnell‐Luria, Alison J. Coffey

    Published 2025
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  9. 9
    Centers for Mendelian Genomics: A decade of facilitating gene discovery

    Centers for Mendelian Genomics: A decade of facilitating gene discovery by Samantha Baxter, Jennifer E. Posey, Nicole J. Lake, Nara Sobreira, Jessica X. Chong, Steven Buyske, Elizabeth Blue, Lisa H. Chadwick, Zeynep Coban‐Akdemir, Kimberly F. Doheny, Colleen Davis, Monkol Lek, Christopher Wellington, Shalini N. Jhangiani, Mark Gerstein, Richard A. Gibbs, Richard P. Lifton, Daniel G. MacArthur, Tara C. Matise, James R. Lupski, David Valle, Michael J. Bamshad, Ada Hamosh, Shrikant Mane, Deborah A. Nickerson, Heidi L. Rehm, Anne O’Donnell‐Luria, Marcia Adams, François Aguet, Gülsen Akay, Peter Anderson, Corina Antonescu, Harindra Arachchi, Mehmed M. Atik, Christina Austin‐Tse, Lawrence Babb, Tamara Bacus, Vahid Bahrambeigi, Suganthi Balasubramanian, Yavuz Bayram, Arthur L. Beaudet, Christine R. Beck, John W. Belmont, Jennifer E. Below, Kaya Bilgüvar, Corinne D. Boehm, Eric Boerwinkle, Philip M. Boone, Sara J. Bowne, Harrison Brand, Kati J. Buckingham, Alicia B. Byrne, Daniel G. Calame, Ian M. Campbell, Xiaolong Cao, Claudia M.B. Carvalho, Varuna Chander, Jaime Chang, Katherine R. Chao, Iván K. Chinn, Declan Clarke, Ryan L. Collins, Beryl B. Cummings, Zain Dardas, Moez Dawood, Kayla Delano, Stephanie DiTroia, HarshaVardhan Doddapaneni, Haowei Du, Renqian Du, Ruizhi Duan, Mohammad K. Eldomery, Christine M. Eng, Eleina England, Emily Evangelista, Selin Everett, Jawid M. Fatih, Adam L. Felsenfeld, Laurent C. Francioli, Christian D. Frazar, Jack Fu, Emmanuel Gamarra, Tomasz Gambin, Weiniu Gan, Mira Gandhi, Vijay Ganesh, Kiran Garimella, Laura D. Gauthier, Danielle Giroux, Claudia Gonzaga‐Jauregui, Julia K. Goodrich, William W. Gordon, Sean Griffith, Christopher M. Grochowski, Shen Gu, Sanna Gudmundsson, Stacey J. Hall, Adam Hansen, Tamar Harel, Arif Harmanci

    Published 2022
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  10. 10
    Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death

    Genomic autopsy to identify underlying causes of pregnancy loss and perinatal death by Alicia B. Byrne, Peer Arts, Thuong Ha, Karin S. Kassahn, Lynn Pais, Anne O’Donnell‐Luria, François Aguet, Harindra Arachchi, Christina Austin‐Tse, Lawrence Babb, Samantha Baxter, Harrison Brand, Jaime Chang, Katherine R. Chao, Ryan L. Collins, Beryl B. Cummings, Kayla Delano, Stephanie DiTroia, Eleina England, Emily Evangelista, Selin Everett, Laurent C. Francioli, Jack B. Fu, Vijay Ganesh, Kiran Garimella, Laura D. Gauthier, Julia K. Goodrich, Sanna Gudmundsson, Stacey J. Hall, Yongqing Huang, Steve Jahl, Kristen M. Laricchia, Kathryn E. Larkin, Monkol Lek, Gabrielle Lemire, Rachel B. Lipson, Alysia Kern Lovgren, Daniel G. MacArthur, Brian Mangilog, Stacy Mano, Jamie L. Marshall, Thomas E. Mullen, Kevin Nguyen, Emily O’Heir, Melanie O’Leary, Ikeoluwa Osei‐Owusu, Jorge Perez de Acha Chavez, Emma Pierce‐Hoffman, Heidi L. Rehm, Jillian Serrano, Moriel Singer‐Berk, Hana Snow, Matthew Solomonson, Rachel G. Son, Abigail Sveden, Michael E. Talkowski, Grace Tiao, Miriam S. Udler, Zaheer M. Valivullah, Elise Valkanas, Grace E. VanNoy, Qingbo Wang, Nicholas A. Watts, Ben Weisburd, Clara E. Williamson, Michael W. Wilson, Lauren Witzgall, Monica H. Wojcik, Isaac Wong, Jordan C. Wood, Shifa Zhang, Milena Babic, Mahalia S. B. Frank, Jinghua Feng, Paul Wang, David Lawrence, Leila Eshraghi, Luis Arriola, John Toubia, Van Hung Nguyen, Disna Abeysuriya, Lesley C. Adès, David J. Amor, Susan Arbuckle, Madhura Bakshi, Bligh Berry, Tiffany Boughtwood, Adam Bournazos, Alessandra Bray, Fiona Chan, Yuen Chan, Clara W. T. Chung, Jonathan R. Clark, Jackie Collett, Alison Colley, Felicity Collins, Sandra T. Cooper, Mark Corbett, Jane E. Dahlstrom, Peter A. Dargaville

    Published 2023
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