It's challenging work to identify disease-causing genes from the next-generation sequencing
(NGS) data of patients with Mendelian disorders. To improve this situation, researchers have …

Aim: Among the severe organ complications occurring in patients with Turner syndrome
(TS), ophthalmic dysmorphia and visual impairment are usually marginalized. There are …

Patients with rare diseases often experience prolonged diagnostic delays. Ordering
appropriate genetic tests is crucial yet challenging, especially for general pediatricians …

Microtia is a congenital and morphological anomaly of one or both ears, which results from a
confluence of genetic and external environmental factors. Up to now, extensive research has …

Annotation of biomedical entities with ontology classes provides for formal semantic analysis
and mobilisation of background knowledge in determining their relationships. To date …

Objective Integrating electronic health record (EHR) data with other resources is essential in
rare disease research due to low disease prevalence. Such integration is dependent on the …

Clinical notes from electronic health records (EHRs) contain a large amount of clinical
phenotype data on patients that can provide insights into the phenotypic presentation of …

Purpose CDKL5 deficiency disorder (CDD) is a developmental and epileptic
encephalopathy with multisystemic comorbidities. Cardiovascular involvement in CDD was …

The sequencing of the first human genome led to expectations of the widespread use of
genetics in medicine. However, assessing the true impact of genetic testing on clinical …

Objective: Integrating EHR data with other resources is essential in rare disease research
due to low disease prevalence. Such integration is dependent on the alignment of …