Litcius/Paper detail

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Thomas A. Ravenscroft, Jennifer B. Phillips, Elizabeth L. Fieg, Sameer S. Bajikar, Judy Peirce, Jeremy Wegner, Alia A. Luna, Eric J. Fox, Yi‐Lin Yan, Jill A. Rosenfeld, Jonathan Zirin, Oguz Kanca, Maria T. Acosta, Margaret P Adam, David R. Adams, Pankaj B. Agrawal, Mercedes E. Alejandro, Justin Alvey, Laura M. Amendola, Ashley Andrews, Euan A. Ashley, Mahshid S. Azamian, Carlos A. Bacino, Güney Bademci, Eva H. Baker, Ashok Balasubramanya, Dustin Baldridge, Jim Bale, Michael J. Bamshad, Deborah Barbouth, Pınar Bayrak‐Toydemir, Anita E. Beck, Alan H. Beggs, Edward M. Behrens, Gill Bejerano, Jimmy Bennet, Beverly Berg-Rood, Jonathan A. Bernstein, Gerard T. Berry, Anna Bican, Stephanie Bivona, Elizabeth Blue, John F. Bohnsack, Carsten Bonnenmann, Devon Bonner, Lorenzo D. Botto, Brenna Boyd, Lauren C. Briere, Elly Brokamp, Gabrielle Brown, Elizabeth A. Burke, Lindsay C. Burrage, Manish J. Butte, Peter H. Byers, William E. Byrd, John C. Carey, Olveen Carrasquillo, Ta Chen Chang, Sirisak Chanprasert, Hsiao‐Tuan Chao, Gary Clark, Terra R. Coakley, Laurel A. Cobban, Joy D. Cogan, Matthew Coggins, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper, Heidi Cope, William J. Craigen, Andrew B. Crouse, Michael L. Cunningham, Precilla D’Souza, Hongzheng Dai, Surendra Dasari, Joie Davis, Jyoti G. Dayal, Matthew A. Deardorff, Esteban C. Dell’Angelica, Shweta U. Dhar, Katrina M. Dipple, Daniel Doherty, Naghmeh Dorrani, Argenia L. Doss, Emilie D. Douine, David D. Draper, Laura Duncan, Dawn Earl, David J. Eckstein, Lisa Emrick, Christine M. Eng, Cecilia Esteves, Marni J. Falk, Liliana Fernández, Carlos R. Ferreira, Elizabeth L. Fieg, Laurie C. Findley, Paul G. Fisher, Brent L. Fogel, Irman Forghani

2021Genetics in Medicine26 citationsDOIOpen Access PDF

Topics & Concepts

Loss functionPhenotypeGeneticsFunction (biology)Heterozygote advantageBiologyGenetic variantsMedicineGenotypeGeneTGF-β signaling in diseasesMuscle Physiology and DisordersGDF15 and Related Biomarkers