Recessive PIGN Mutations in Fryns Syndrome: Evidence for Genetic Heterogeneity
Mucolipidosis III GNPTG Missense Mutations Cause Misfolding of the γ Subunit of GlcNAc-1-Phosphotransferase
Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants
Prioritizing Variants in Complete Hereditary Breast and Ovarian Cancer Genes in Patients Lacking Known BRCA Mutations
ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients
A Distinct Class of Chromoanagenesis Events Characterized by Focal Copy Number Gains
Complex Copy Number Variation of AMY1 does not Associate with Obesity in two East Asian Cohorts
Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families
High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF