Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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).

Journal of medical genetics - 20 Mar 2026

Low Karen Jaqueline, Day Huw, Thanthilla Mevmi Lasanya Kodippuli, Davis Charlotte, Firth Helen V, Wright Caroline

Abstract excerpt

BACKGROUND: Parent/patient-reported (PRD) datasets provide ready access to phenotypic data for monogenic neurodevelopmental disorders, yet their concordance with clinical data is unclear. METHODS: In the GenROC study, 547 children (mean age 7.6 years, balanced sex ratio) had parallel parent-reported web questionnaires and clinician-reported (CRD) Human Phenotype Ontology proformas. We compared the two sources per...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cohort Studies

Share to Infant

Share to Neurodevelopmental Disorders

Share to Parents

Share to Surveys and Questionnaires

Share to Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 41554638
DOI: 10.1136/jmg-2025-111193
PMCID: PMC13018764

Genes

CACNA1A
STXBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

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).PMID 41554638Read ↗

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)Semantic proximity Read ↗

Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery.Semantic proximity Read ↗

Prevalence of comorbidities in individuals with neurodevelopmental disorders from the aggregated phenomics data of 51,227 pediatric individuals.Semantic proximity Read ↗

Gaps in the phenotype descriptions of ultra-rare genetic conditions: review and multicenter consensus reporting guidelinesSemantic proximity Read ↗

PhenomAD-NDD: the Phenomics Aggregation Database of comorbidities in 51,227 pediatric individuals with NeuroDevelopmental DisordersSemantic proximity Read ↗

Domain-wide Mapping of Peer-reviewed Literature for Genetic Developmental Disorders using Machine Learning and Gene2PhenotypeSemantic proximity Read ↗

Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes.Semantic proximity Read ↗

Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disordersSemantic proximity Read ↗

[From symptom to syndrome using modern software support].Semantic proximity Read ↗

Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.Semantic proximity Read ↗

The Human Phenotype Ontology in 2017.Semantic proximity Read ↗

The clinical and genetic spectrum of paediatric speech and language disorders.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.