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Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions
| Reporting guideline provided for? (i.e. exactly what the authors state in the paper) |
Reporting phenotype descriptions for rare genetic diseases. |
| Full bibliographic reference | AlMail A, Jamjoom A, Pan A, Feng MY, Chau V, D'Gama AM, Howell K, Liang NSY, McTague A, Poduri A, Wiltrout K; IPCHiP Executive Committee; Bassett AS, Christodoulou J, Dupuis L, Gill P, Levy T, Siper P, Stark Z, Vorstman JAS, Diskin C, Jewitt N, Baribeau D, Costain G. Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions. NPJ Genom Med. 2024;9(1):27. |
| Language | English |
| PubMed ID | 38582909 |
| Relevant URLs (full-text if available) |
The PHELIX checklists are available in Tables 9 and 10 in the supplementary materials (PDF). |
| Reporting guideline acronym | PHELIX |
| Study design | Observational studies |
| Clinical area | Genetics, Paediatrics |
| Applies to the whole report or to individual sections of the report? | Data, Study characteristics (participants etc.) |
| Record last updated on | April 17, 2024 |