How do clinician and parent-reported data differ? An analysis of similarity and difference in the datasets from a cross-syndrome genetics cohort study (GenROC)

Parents reported more common childhood phenotypes, such as asthma and dental issues, while clinicians provided clinical phenotype descriptors, such as brain morphology and seizure semiology. It is important to understand the differences when designing studies and using datasets to appreciate their strengths and limitations.

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Publication Details

Journal
Journal of Medical Genetics
Published
2026-01-19
DOI
https://doi.org/10.1136/jmg-2025-111193
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
0.00

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article

How do clinician and parent-reported data differ? An analysis of similarity and difference in the datasets from a cross-syndrome genetics cohort study (GenROC)

C David Wright, H. V. Firth, M Thanthilla, Karen Jaqueline Low et al.
Journal of Medical Genetics
Genomics and Rare Diseases
article

How do clinician and parent-reported data differ? An analysis of similarity and difference in the datasets from a cross-syndrome genetics cohort study (GenROC)

C David Wright, H. V. Firth, M Thanthilla, Karen Jaqueline Low, Charlotte Davis, Huw Day
article en

Abstract

Parents reported more common childhood phenotypes, such as asthma and dental issues, while clinicians provided clinical phenotype descriptors, such as brain morphology and seizure semiology. It is important to understand the differences when designing studies and using datasets to appreciate their strengths and limitations.

Journal of Medical GeneticsVol. 63(4)
European Bioinformatics Institute (GB), University of Exeter (GB), University Hospitals Bristol NHS Foundation Trust (GB), University of Bristol (GB), NIHR Bristol Biomedical Research Centre (GB), Addenbrooke's Hospital (GB)
National Institute for Health and Care Research, Department of Health and Social Care, NIHR Cambridge Biomedical Research Centre
Gender equality
Openalex Percentile: Top 85%
Genomics and Rare Diseases
DOIOpen Access PDFOpenAlex
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How do clinician and parent-reported data differ? An analysis of similarity and difference in the datasets from a cross-syndrome genetics cohort study (GenROC) — C David Wright, H. V. Firth, et al. · Journal of Medical Genetics (2026) | TGRS Research Map | TGRS