DECIPHER (D atabas e of Genomi c Var i ation and P henotype in H umans Using E nsembl
R esources) shares candidate diagnostic variants and phenotypic data from patients with …

The widespread use of whole exome sequencing (WES) resulted in the discovery of
multilocus pathogenic variations (MPV), defined as two or more distinct or overlapping …

Background The recent guidelines suggest the use of genome‐wide analyses, such as
whole exome sequencing (WES), at the beginning of the diagnostic approach for cases with …

Hypercalciuria is the most common metabolic risk factor in people with kidney stone
disease. Its etiology is mostly multifactorial, although monogenetic causes of hypercalciuria …

Purpose Wide access to clinical exome/genome sequencing (ES/GS) enables the
identification of multiple molecular diagnoses (MMDs), being a long-standing but …

Objective To evaluate the presence of multiple genetic diagnoses in syndromic growth
disorders. Study design We carried out a cross-sectional study to evaluate 115 patients with …

Recent advancements in the next‐generation sequencing have illuminated the occurrence
of multiple genetic diagnoses (MGD). While exome sequencing has provided insights …

Despite the advances in high-throughput sequencing, many rare disease patients remain
undiagnosed. In particular, the patients with well-defined clinical phenotypes and …

Background: Pediatric patients with undiagnosed conditions, particularly those suspected of
having Mendelian genetic disorders, pose a significant challenge in healthcare. This study …

Key Clinical Message Multiple genetic disorders can coexist in one patient. When the
phenotype is not fully explained with one diagnosis, it is recommended to perform further …