Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Two case reports and a literature review of hyperphosphatasia with intellectual disability syndrome 2 caused by a PIGO mutation.
Wang X et al.
Frontiers in Pediatrics, 2025
Single-cell sequencing reveals CD133+CD44--originating evolution and novel stemness related variants in human colorectal cancer.
Zhang X et al.
Ebiomedicine, 2022
Somatic Mutational Profile of High-Grade Serous Ovarian Carcinoma and Triple-Negative Breast Carcinoma in Young and Elderly Patients: Similarities and Divergences.
Serio PAMP et al.
Cells, 2021
Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review.
Lipiński P et al.
Diagnostics (basel, Switzerland), 2021
The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.
Wu T et al.
Orphanet Journal of Rare Diseases, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
VarAFT: a variant annotation and filtration system for human next generation sequencing data.
Desvignes JP et al.
Nucleic Acids Research, 2018
A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels.
Zehavi Y et al.
Metabolic Brain Disease, 2017
PIGO deficiency: palmoplantar keratoderma and novel mutations.
Morren MA et al.
Orphanet Journal of Rare Diseases, 2017
How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era.
Salgado D et al.
Human Mutation, 2016
Clinical and genetic analysis of two Chinese infants with Mabry syndrome.
Xue J et al.
Brain & Development, 2016
Neurogenetic Aspects of Hyperphosphatasia in Mabry Syndrome.
Cole DE et al.
Sub-cellular Biochemistry, 2015
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
Hansen L et al.
American Journal of Human Genetics, 2013
Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.
Krawitz PM et al.
American Journal of Human Genetics, 2012