Search GLEAM-DB / CoGenEx-PM3

Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype.

Molecular characterization of novel and rare DNA variants in patients with galactosemia.

Next-generation sequencing improves precision medicine in hearing loss.

Development of a clinically validated in vitro functional assay to assess pathogenicity of novel GAA variants in patients with Pompe disease identified via newborn screening.

Prenatal phenotype analysis and mutation identification of a fetus with meckel gruber syndrome.

Mutant B3GALT6 in a Multiplex Family: A Dominant Variant Co-Segregated With Moderate Malformations.

Case Report: Whole Exome Sequencing Revealed Two Novel Mutations of PIEZO1 Implicated in Nonimmune Hydrops Fetalis.

Ultrastructural Sperm Flagellum Defects in a Patient With CCDC39 Compound Heterozygous Mutations and Primary Ciliary Dyskinesia/Situs Viscerum Inversus.

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families.

Case Report: Novel ATP13A2 pathogenic variants associated with early-onset parkinsonism and a mini-review.

Case Report: Pediatric CNS-isolated hemophagocytic lymphohistiocytosis secondary to uniparental disomy of PRF1 mutation.

Expanded newborn screening for inborn errors of metabolism and genetic variants in Xinjiang, China.

Two novel cases with PIGQ-CDG: expansion of the genotype-phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool.

Case Report: Incidental late-onset Pompe disease diagnosis in a man with no clinical and instrumental evidence of neuromuscular dysfunction.

Clinical genetic analysis of an adult polyglucosan body disease (APBD) family caused by the compound heterozygous variant of GBE1 p.R156C and deletion exon 3-7.

Genetic heterogeneity in autosomal recessive hearing loss: a survey of Brazilian families.

Case report: Two siblings with very late onset of holocarboxylase synthase deficiency and a mini-review.

Four novel variants identified in the ACADVL gene causing very-long-chain acyl-coenzyme A dehydrogenase deficiency in four unrelated Chinese families.

Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis.

Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis.