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 Genomic Medicine. 2024;9(1):27. doi:10.1038/s41525-024-00408-w.
This manuscript recommends the use of specific checklists when conducting phenotypic investigations of ultra-rare genetic conditions. Access via EQUATOR Network.

Goren K, Lai VKW, Baba A, Smith M, Allegaert K, Butcher NJ, Fernandes R, Gill PJ, Hartling L, Juszczak E, Longmuir PE, Macarthur C, Mehta K, Metz D, Nguyen KA, Odermarsky M, Poluru R, Purper-Ouakil D, Reggiardo G, Stratton C, Szatmari P, Trivedi A, Upton J, Hoffmann T, Offringa M.
Transparent Reporting of Pediatric Clinical Trial Interventions: TIDieR-Children and Adolescents. Pediatrics. 2025; e2025072867. doi:10.1542/peds.2025-072867.
This manuscript provides a framework for transparent and standardized reporting of pediatric clinical trial interventions.

van Silfhout NY, van Muilekom MM, van Karnebeek CD, Haverman L, van Eeghen AM.
PROs for RARE: protocol for development of a core patient reported outcome set for individuals with genetic intellectual disability. Orphanet Journal of Rare Diseases. 2024;19(1):354. doi:10.1186/s13023-024-03264-0.
This protocol outlines the process for developing a generic core PRO set for children and adults with genetic intellectual disability.

Müller AR, van Silfhout NY, den Hollander B, Kampman DHC, Bakkum L, Brands MMMG, Haverman L, Terwee CB, Schuengel C, Daams J, Hessl D, Wijburg FA, Boot E, van Eeghen AM.
Navigating the outcome maze: a scoping review of outcomes and instruments in clinical trials in genetic neurodevelopmental disorders and intellectual disability. Therapeutic Advances in Rare Disease. 2024;5:26330040241245721. doi:10.1177/26330040241245721.
This 10-year scoping review summarizes outcomes and instruments used in genetic neurodevelopmental disorder and intellectual disability trials, including access to the raw study data in supplemental materials.