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

Development and validation of a computable phenotype for Turner syndrome utilizing electronic health records from a national pediatric network.

American journal of medical genetics. Part A - 1 Apr 2024

Huang Sarah D, Bamba Vaneeta, Bothwell Samantha, Fechner Patricia Y, Furniss Anna, Ikomi Chijioke, Nahata Leena, Nokoff Natalie J, Pyle Laura, Seyoum Helina, Davis Shanlee M

Abstract excerpt

Turner syndrome (TS) is a genetic condition occurring in ~1 in 2000 females characterized by the complete or partial absence of the second sex chromosome. TS research faces similar challenges to many other pediatric rare disease conditions, with homogenous, single-center, underpowered studies. Secondary data analyses utilizing electronic health record (EHR) have the potential to address these limitations;...

Read the complete abstract on PubMed

Topics

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

Share to Algorithms
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electronic Health Records

Share to Estradiol

Share to Phenotype

Share to Turner Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 38066696
DOI: 10.1002/ajmg.a.63495
PMCID: PMC10939843

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Development and validation of a computable phenotype for Turner syndrome utilizing electronic health records from a national pediatric network.PMID 38066696Read ↗

Development and Validation of a Computable Phenotype for Turner Syndrome Utilizing Electronic Health Records from a National Pediatric NetworkSemantic proximity Read ↗

Turner SyndromeSemantic proximity Read ↗

Lymphedema in Turner syndrome: correlations with phenotype and karyotype.Semantic proximity Read ↗

Prevalence, diagnostic features, and medical outcomes of females with Turner syndrome with a trisomy X cell line (45,X/47,XXX): Results from the InsighTS Registry.Semantic proximity Read ↗

A basic understanding of Turner syndrome: Incidence, complications, diagnosis, and treatmentSemantic proximity Read ↗

Elucidating the Cancer Phenotype in Turner Syndrome: A 20-Year Observational Cohort Study.Semantic proximity Read ↗

Developing and Validating a Computable Phenotype for the Identification of Transgender and Gender Nonconforming Individuals and SubgroupsSemantic proximity Read ↗

Developing and Validating a Computable Phenotype for the Identification of Transgender and Gender Nonconforming Individuals and Subgroups.Semantic proximity Read ↗

The Use of Computational Phenotypes within Electronic Healthcare Data to Identify Transgender People in the United States: A Narrative ReviewSemantic proximity Read ↗

Population-based assessment of neurodevelopmental and mental health diagnoses among pediatric patients with Turner Syndrome: A PEDSnet studySemantic proximity Read ↗

Research Priorities of Individuals and Families with Sex Chromosome AneuploidiesSemantic proximity Read ↗

Turner syndrome in diverse populations.Semantic proximity Read ↗

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