検索結果 - Jeffrey Bissonnette

P250: Clarification of variant reporting for homologous genes resolved through systematic literature review: ACMG SF genes CALM1, CALM2, and CALM3 著者: Kathryn Curry, Natalie Syverud, Anna McGill, Jeffrey Bissonnette, Jane Beckwell, Elizabeth Wiley, Mark Kiel

全文の入手

P221: Systematic literature review of GLA variants uncovers additional Fabry Disease-causing variants 著者: Jeffrey Bissonnette, Biliana Veleva-Rotse, Joseph Giuliano, Rhea Kerawala, Derek Timm, Natalie Syverud, Amina Kozaric, Mark Kiel

全文の入手

Assessment of paralogue annotation for improving diagnostic accuracy in CALM1, CALM2, and CALM3 genes 著者: Kathryn M. Curry, Amar Mujkic, Natalie Syverud, Anna K. McGill, Jane E. Beckwell, Elizabeth A. Wiley, Jeffrey Bissonnette, Amina Kurtovic-Kozaric, Mark J. Kiel

全文の入手

P337: Variant classification is negatively impacted by the absence of biochemical data in published patient reports 著者: Jeffrey Bissonnette, Betty Mathias, Melida Mahinic, Ana Gutalj, Rasema Bihorac Hrelja, Mirna Racic, Sabina Alagic, Ena Toman, Paty Romero, Jane Beckwell, Elizabeth Wiley, Kathryn Curry, Anna McGill, Amina Kozaric, Mark Kiel

全文の入手

O54: Comprehensive database of variants in ACMG secondary findings genes from AI-based systematic evidence curation and expert variant classification 著者: Amina Kozaric, Amar Mujkic, Eric Siciliano, Zach Young, Betty Mathias, Jane Beckwell, Melida Mahinic, Rasema Bihorac Hrelja, Ana Gutalj, Maida Ljubijankic, Haris Kajtazovic, Mirela Tica-Spahic, Kathryn Curry, Elizabeth Wiley, Anna McGill, Jeffrey Bissonnette, Mark Kiel

全文の入手

O33: Comprehensive identification of gene-disease relationships across the clinical exome through systematic literature review and parallelized evidence curation 著者: Mark Kiel, Jeffrey Bissonnette, Emir Hrelja, Mirela Tica-Spahic, Menara Arapcic-Granic, Elma Brkic, Selma Cajo, Ilma Cehic, Azra Cickusic, Anida Corbic, Mirnesa Cviko-Nalbantic, Ismet Duranovic, Senada Dzibric, Jessica Farmer, Selma Fatic, Almina Gajic, Lamija Hafizovic, Dino Hasanagic, Aldina Haskovic, Adna Karic, Rhea Kerawala, Elma Lakota, Zerina Lepara-Dervisevic, Haris Lokvancic, Lejla Mujkic, Selma Muratovic, Belma Mutapcic, Anita Plecas, Selma Selimovic, Natalie Syverud, Ena Toman, Amila Zoranovic

全文の入手