Bibliotecas PUC-SP - Busca Integrada

P103: Operationalizing structured curated scientific literature (CIViC and Hypothesis) in developing gene-specific recommendations of the ClinGen VHL Variant Curation Expert Panel

Por Deborah Ritter, Chansonette Badduke, Michael Anderson, Arpad Danos, Kurston Doonanco, Kirsten Farncombe, Bailey Gallinger, Rachel Giles, Malachi Griffith, Obi Griffith, Carolyn Horton, Kathleen Hruska, Hio Chung Kang, Kilannin Krysiak, Minjie Luo, Jerry Machado, Eamonn Maher, Kelly McGoldrick, Tina Pesaran, Neta Pipko, Sarah Ridd, Jason Saliba, Clare Sheen, Raymond Kim
Publicado no Genetics in Medicine Open (2024-01-01)

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort

Por Jamie C. Stark, Neta Pipko, Yijing Liang, Anna Szuto, Chung Ting Tsoi, Megan A. Dickson, Kyoko E. Yuki, Huayun Hou, Sydney Scholten, Kenzie Pulsifer, Meryl Acker, Meredith Laver, Harsha Murthy, Olivia M. Moran, Emily Bonnell, Nicole Liang, Jashanpreet Sidhu, Lucie Dupuis, Mohammad M. Ghahramani Seno, Care4Rare Canada Consortium, Marisa Chard, Rebekah K. Jobling, Jessie Cameron, Rose Chami, Michal Inbar-Feigenberg, Michael D. Wilson, David A. Chitayat, Kym M. Boycott, Lianna Kyriakopoulou, Roberto Mendoza-Londono, Christian R. Marshall, James J. Dowling, Gregory Costain, Ashish R. Deshwar
Publicado no Genome Medicine (2025-07-01)