Associated Papers
Two novel cases with PIGQ-CDG: expansion of the genotype-phenotype spectrum and evaluation of GestaltMatcher as a diagnostic tool.
Kušíková K et al.
Frontiers in Genetics, 2025
Diagnostic Yield of Exome Sequencing in Pediatric Cardiomyopathy.
Keisling J et al.
The Journal of Pediatrics, 2024
PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia.
Zanni G et al.
Cerebellum (london, England), 2022
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
Johnstone DL et al.
Journal of Inherited Metabolic Disease, 2020
PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype.
Starr LJ et al.
American Journal of Medical Genetics. Part A, 2019
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Farwell Hagman KD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
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