Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms
- Resource Type
- Article
- Authors
- Roberts, Angharad M.; DiStefano, Marina T.; Riggs, Erin Rooney; Josephs, Katherine S.; Alkuraya, Fowzan S.; Amberger, Joanna; Amin, Mutaz; Berg, Jonathan S.; Cunningham, Fiona; Eilbeck, Karen; Firth, Helen V.; Foreman, Julia; Hamosh, Ada; Hay, Eleanor; Leigh, Sarah; Martin, Christa L.; McDonagh, Ellen M.; Perrett, Daniel; Ramos, Erin M.; Robinson, Peter N.; Rath, Ana; Sant, David W.; Stark, Zornitza; Whiffin, Nicola; Rehm, Heidi L.; Ware, James S.
- Source
- In Genetics in Medicine February 2024 26(2)
- Subject
- Language
- ISSN
- 1098-3600