Opening book details…
About this book
Functional characterization of 2,832 JAG1 variants supports reclassification for Alagille syndrome and improves guidance for clinical variant interpretation by Melissa A. Gilbert & Ernest Keefer-Jacques & Tanaya Jadhav & Daniel Antfolk & Qianqian Ming & Nicolette Valente & Grace Tzun-Wen Shaw & Christopher J. Sottolano & Grace Matwijec & Vincent C. Luca & Kathleen M. Loomes & Ramakrishnan Rajagopalan &... is a book available to read on EtoBox.
- Author
- Melissa A. Gilbert & Ernest Keefer-Jacques & Tanaya Jadhav & Daniel Antfolk & Qianqian Ming & Nicolette Valente & Grace Tzun-Wen Shaw & Christopher J. Sottolano & Grace Matwijec & Vincent C. Luca & Kathleen M. Loomes & Ramakrishnan Rajagopalan &...
- Publisher
- The Authors
- Published
- 2024
- Language
- EN
More by Melissa A. Gilbert & Ernest Keefer-Jacques & Tanaya Jadhav & Daniel Antfolk & Qianqian Ming & Nicolette Valente & Grace Tzun-Wen Shaw & Christopher J. Sottolano & Grace Matwijec & Vincent C. Luca & Kathleen M. Loomes & Ramakrishnan Rajagopalan &...
Similar books
- A Calibrated Functional Patch-clamp Assay to Enhance Clinical Variant Interpretation in KCNH2-related Long QT Syndrome — Connie Jiang & Ebony Richardson & Jessica Farr & Adam P. Hill & Rizwan Ullah & Brett M. Kroncke & Steven M. Harrison & Kate L. Thomson & Jodie Ingles & Jamie I. Vandenberg & Chai-Ann Ng (2022)
- Variant Interpretation: Functional Assays to the Rescue — Lea M. Starita & Nadav Ahituv & Maitreya J. Dunham & Jacob O. Kitzman & Frederick P. Roth & Georg Seelig & Jay Shendure & Douglas M. Fowler (2017)
- High-throughput Characterization of Functional Variants Highlights Heterogeneity and Polygenicity Underlying Lung Cancer Susceptibility — Erping Long & Harsh Patel & Alyxandra Golden & Michelle Antony & Jinhu Yin & Karen Funderburk & James Feng & Lei Song & Jason W. Hoskins & Laufey T. Amundadottir & Rayjean J. Hung & Christopher I. Amos & Jianxin Shi & Nathaniel Rothman & Qing Lan &... (2024)
- Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity — Karen S. Raraigh & Sangwoo T. Han & Emily Davis & Taylor A. Evans & Matthew J. Pellicore & Allison F. McCague & Anya T. Joynt & Zhongzhou Lu & Melis Atalar & Neeraj Sharma & Molly B. Sheridan & Patrick R. Sosnay & Garry R. Cutting (2018)
- Functional Analysis and Clinical Classification of 462 Germline BRCA2 Missense Variants Affecting the DNA Binding Domain — Chunling Hu & Huaizhi Huang & Jie Na & Carolyn Lumby & Mohamed Abozaid & Megan A. Holdren & Tara J. Rao & Rachid Karam & Tina Pesaran & Jamie D. Weyandt & Christen M. Csuy & Christina A. Seelaus & Colin C. Young & Kelly Fulk & Zahra Heidari & Paulo... (2024)
- Specifications of the ACMG/AMP Variant Curation Guidelines for the Analysis of Germline ATM Sequence Variants — Marcy E. Richardson & Megan Holdren & Terra Brannan & Miguel de la Hoya & Amanda B. Spurdle & Sean V. Tavtigian & Colin C. Young & Lauren Zec & Susan Hiraki & Michael J. Anderson & Logan C. Walker & Shannon McNulty & Clare Turnbull & Marc Tischkowitz &... (2024)