Search Results - Izabela Karbassi

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  1. 1
    The allelic spectrum of Charcot–Marie–Tooth disease in over 17,000 individuals with neuropathy

    The allelic spectrum of Charcot–Marie–Tooth disease in over 17,000 individuals with neuropathy by Christina DiVincenzo, Christopher Elzinga, Adam C. Medeiros, Izabela Karbassi, Jeremiah Jones, Matthew C. Evans, Corey Braastad, Crystal M. Bishop, Malgorzata Jaremko, Zhenyuan Wang, Khalida Liaquat, Carol Hoffman, Michelle York, Sat Dev Batish, James R. Lupski, Joseph Higgins

    Published 2014
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  2. 2
    The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles

    The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles by Philip M. Boone, Bo Yuan, Ian M. Campbell, Jennifer Scull, Marjorie Withers, Brett Baggett, Christine R. Beck, Christine J. Shaw, Paweł Stankiewicz, Paolo Moretti, Wendy E. Goodwin, Nichole D. Hein, John K. Fink, Moon‐Woo Seong, Soo Hyun Seo, Sung Sup Park, Izabela Karbassi, Sat Dev Batish, Andrés Ordóñez‐Ugalde, Beatriz Quintáns, María-Jesús Sobrido, Susanne Stemmler, James R. Lupski

    Published 2014
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  3. 3
    A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders

    A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders by Izabela Karbassi, Glenn A. Maston, Angela Love, Christina DiVincenzo, Corey Braastad, Christopher Elzinga, Alison Bright, Domenic J. Previte, Ke Zhang, Charles M. Rowland, Michele McCarthy, Jennifer L. Lapierre, Felicita Dubois, Katelyn A. Medeiros, Sat Dev Batish, Jeffrey B. Jones, Khalida Liaquat, Carol Hoffman, Malgorzata Jaremko, Zhenyuan Wang, Weimin Sun, Arlene Buller‐Burckle, Charles M. Strom, Steven Keiles, Joseph Higgins

    Published 2015
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  4. 4
    BRCA Share: A Collection of Clinical BRCA Gene Variants

    BRCA Share: A Collection of Clinical BRCA Gene Variants by Christophe Béroud, Stanley Letovsky, Corey Braastad, Sandrine M. Caputo, Olivia Beaudoux, Yves Jean Bignon, Brigitte Bressac–de Paillerets, Myriam Bronner, Crystal M. Buell, Gwenaëlle Collod‐Béroud, Florence Coulet, Nicolas Derive, Christina DiVincenzo, Christopher Elzinga, Céline Garrec, Claude Houdayer, Izabela Karbassi, Sarab Lizard, Angela Love, Danièle Muller, Narasimhan Nagan, Camille Nery, Ghadi Raï, Françoise Révillion, David Salgado, Nicolas Sévenet, Olga M. Sinilnikova, Hagay Sobol, Dominique Stoppa‐Lyonnet, Christine Toulas, Edwin Trautman, Dominique Vaur, Paul Vilquin, Katelyn S. Weymouth, Alecia Willis, Marcia Eisenberg, Charles M. Strom

    Published 2016
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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 landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

    The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change by Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya, Pınar Bayrak‐Toydemir, Hunter Best, Rhonda Brandon, Jillian G. Buchan, Elizabeth Chao, Elaine Chen, Jacob Clifford, Ana S.A. Cohen, Laura K. Conlin, Soma Das, Kyle Davis, Daniela del Gaudio, Florencia Del Viso, Christina DiVincenzo, Marcia Eisenberg, Lucia Guidugli, Monia Hammer, Steven M. Harrison, Kathryn E. Hatchell, Lindsay Havens Dyer, Lily Hoang, James Holt, Vaidehi Jobanputra, Izabela Karbassi, Hutton M. Kearney, Melissa Kelly, Jacob M. Kelly, Michelle L. Kluge, Timothy Komala, Paul Kruszka, Lynette Lau, Matthew S. Lebo, Christian R. Marshall, Dianalee McKnight, Kirsty McWalter, Yan Meng, Narasimhan Nagan, Christian S. Neckelmann, Nir Neerman, Zhiyv Niu, Vitoria Paolillo, Sarah A Paolucci, Denise Perry, Tina Pesaran, Kelly Radtke, Kristen Rasmussen, Kyle Retterer, Carol Saunders, Elizabeth Spiteri, Christine M. Stanley, Anna Szuto, Ryan J. Taft, Isabelle Thiffault, Brittany C. Thomas, Amanda Thomas‐Wilson, Erin Thorpe, Timothy Tidwell, Meghan C. Towne, Hana Zouk, Christian Marshall, Linyan Meng, Vaidehi Jobanputra, Ryan J. Taft, Euan A. Ashley, Ghunwa Nakouzi, Wei Shen, Stephen F. Kingsmore, Heidi L. Rehm

    Published 2023
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