Ocular coloboma is a congenital disorder of the eye where a gap exists in the inferior retina,
lens, iris, or optic nerve tissue. With a prevalence of 2–19 per 100,000 live births, coloboma …

Motivation Over the past years, many computational methods have been developed to
incorporate information about phenotypes for disease–gene prioritization task. These …

Objective To ascertain the performance of exome sequencing (ES) technology for
determining the etiological basis of abnormal perinatal phenotypes and to study the impact …

Hereditary angioedema (HAE) is a rare disease where known causes involve C1 inhibitor
dysfunction or dysregulation of the kinin cascade. The updated HAE management …

Whole‐genome sequencing (WGS) holds great potential as a diagnostic test. However, the
majority of patients currently undergoing WGS lack a molecular diagnosis, largely due to the …

Objective To determine which types of fetal anomalies are associated with postnatal
diagnoses of genetic diseases by genomic sequencing and to assess how prenatal genomic …

Background In the process of finding the causative variant of rare diseases (RD), accurate
assessment and prioritization of genetic variants is essential. Although quality control (QC) …

Background Sandhoff disease (SD) is an autosomal recessive lysosomal disease with
clinical manifestations such as epilepsy, psychomotor retardation and developmental delay …

Clinical dysmorphology evolved out of the need to standardize descriptive terminology used
to define human variation, primarily in the context of malformations and syndromic disorders …

Investigation of the Genetic Etiology of Superior Coloboma and the Formation and Closure of
Superior Ocular Sulcus Page 1 Investigation of the Genetic Etiology of Superior Coloboma and …