Matches in SemOpenAlex for { <https://semopenalex.org/work/W4386789656> ?p ?o ?g. }
- W4386789656 abstract "ABSTRACT Background Genome-wide sequencing and genetic matchmaker services are propelling a new era of genotype-first ascertainment of novel genetic conditions. The degree to which reported phenotype data in discovery-focused studies address informational priorities for clinicians and families is unclear. Methods We identified reports published from 2017-2021 in ten genetics journals of novel Mendelian disorders ascertained genotype-first. We adjudicated the quality and detail of the phenotype data via 46 questions pertaining to six priority domains: (I) Development, cognition, and mental health; (II) Feeding and growth; (III) Medication use and treatment history; (IV) Pain, sleep, and quality of life; (V) Adulthood; and (VI) Epilepsy. For a subset of articles, all subsequent published follow-up case descriptions were identified and assessed in a similar manner. A modified Delphi approach was used to develop consensus reporting guidelines, with input from content experts across four countries. Results In total, 200 of 3243 screened publications met inclusion criteria. Relevant phenotypic details across each of the six domains were rated superficial or deficient in >87% of papers. For example, less than 10% of publications provided details regarding neuropsychiatric diagnoses and “behavioural issues”, or about the type/nature of feeding problems. Follow-up reports (n=95) rarely addressed the limitations of the original reports. Reporting guidelines were developed for each domain. Conclusion Phenotype information relevant to clinical management, genetic counseling, and the stated priorities of patients and families is lacking for many newly described genetic diseases. Use of the proposed guidelines could improve phenotype reporting in the genomic era." @default.
- W4386789656 created "2023-09-16" @default.
- W4386789656 creator A5007526879 @default.
- W4386789656 creator A5015684822 @default.
- W4386789656 creator A5023853299 @default.
- W4386789656 creator A5024728209 @default.
- W4386789656 creator A5025887243 @default.
- W4386789656 creator A5028876259 @default.
- W4386789656 creator A5042875428 @default.
- W4386789656 creator A5043050652 @default.
- W4386789656 creator A5045791231 @default.
- W4386789656 creator A5050099013 @default.
- W4386789656 creator A5053432529 @default.
- W4386789656 creator A5054958994 @default.
- W4386789656 creator A5055720232 @default.
- W4386789656 creator A5056643856 @default.
- W4386789656 creator A5056840743 @default.
- W4386789656 creator A5059429784 @default.
- W4386789656 creator A5065109936 @default.
- W4386789656 creator A5073195815 @default.
- W4386789656 creator A5074678844 @default.
- W4386789656 creator A5081556745 @default.
- W4386789656 creator A5085885383 @default.
- W4386789656 creator A5090404715 @default.
- W4386789656 creator A5092883815 @default.
- W4386789656 date "2023-09-14" @default.
- W4386789656 modified "2023-09-27" @default.
- W4386789656 title "Gaps in the phenotype descriptions of ultra-rare genetic conditions: review and multi-center consensus reporting guidelines" @default.
- W4386789656 cites W1955152225 @default.
- W4386789656 cites W1997560340 @default.
- W4386789656 cites W2076705639 @default.
- W4386789656 cites W2080770151 @default.
- W4386789656 cites W2093038967 @default.
- W4386789656 cites W2314568204 @default.
- W4386789656 cites W2789974830 @default.
- W4386789656 cites W2790807385 @default.
- W4386789656 cites W2791760233 @default.
- W4386789656 cites W2885009838 @default.
- W4386789656 cites W2902118380 @default.
- W4386789656 cites W2906952882 @default.
- W4386789656 cites W2922939447 @default.
- W4386789656 cites W2940075872 @default.
- W4386789656 cites W2941383532 @default.
- W4386789656 cites W2947718371 @default.
- W4386789656 cites W2966400492 @default.
- W4386789656 cites W2971632170 @default.
- W4386789656 cites W3013760584 @default.
- W4386789656 cites W3035821413 @default.
- W4386789656 cites W3038567487 @default.
- W4386789656 cites W3087462029 @default.
- W4386789656 cites W3100002590 @default.
- W4386789656 cites W3123712009 @default.
- W4386789656 cites W3124401505 @default.
- W4386789656 cites W3135459427 @default.
- W4386789656 cites W3160712508 @default.
- W4386789656 cites W3163773339 @default.
- W4386789656 cites W3174213828 @default.
- W4386789656 cites W3182556863 @default.
- W4386789656 cites W3187043711 @default.
- W4386789656 cites W3196958876 @default.
- W4386789656 cites W3199784745 @default.
- W4386789656 cites W3202047506 @default.
- W4386789656 cites W3207198721 @default.
- W4386789656 cites W3210799493 @default.
- W4386789656 cites W4210964473 @default.
- W4386789656 cites W4220680511 @default.
- W4386789656 cites W4224462497 @default.
- W4386789656 cites W4229446487 @default.
- W4386789656 cites W4281389243 @default.
- W4386789656 cites W4282918066 @default.
- W4386789656 cites W4289890350 @default.
- W4386789656 cites W4294733395 @default.
- W4386789656 cites W4311204161 @default.
- W4386789656 cites W4312030263 @default.
- W4386789656 cites W4362724216 @default.
- W4386789656 cites W4366998702 @default.
- W4386789656 cites W4376134787 @default.
- W4386789656 cites W4385889024 @default.
- W4386789656 doi "https://doi.org/10.1101/2023.09.13.23295418" @default.
- W4386789656 hasPublicationYear "2023" @default.
- W4386789656 type Work @default.
- W4386789656 citedByCount "0" @default.
- W4386789656 crossrefType "posted-content" @default.
- W4386789656 hasAuthorship W4386789656A5007526879 @default.
- W4386789656 hasAuthorship W4386789656A5015684822 @default.
- W4386789656 hasAuthorship W4386789656A5023853299 @default.
- W4386789656 hasAuthorship W4386789656A5024728209 @default.
- W4386789656 hasAuthorship W4386789656A5025887243 @default.
- W4386789656 hasAuthorship W4386789656A5028876259 @default.
- W4386789656 hasAuthorship W4386789656A5042875428 @default.
- W4386789656 hasAuthorship W4386789656A5043050652 @default.
- W4386789656 hasAuthorship W4386789656A5045791231 @default.
- W4386789656 hasAuthorship W4386789656A5050099013 @default.
- W4386789656 hasAuthorship W4386789656A5053432529 @default.
- W4386789656 hasAuthorship W4386789656A5054958994 @default.
- W4386789656 hasAuthorship W4386789656A5055720232 @default.
- W4386789656 hasAuthorship W4386789656A5056643856 @default.
- W4386789656 hasAuthorship W4386789656A5056840743 @default.
- W4386789656 hasAuthorship W4386789656A5059429784 @default.
- W4386789656 hasAuthorship W4386789656A5065109936 @default.