Associated Papers
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
Rekerle L et al.
American Journal of Human Genetics, 2026
41443197 (PubMed )
Supplement: mmc1.pdf
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.
Rekerle L et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40093222 (PubMed )
Supplement: media-1.pdf
Identification of CNTN2 as a genetic modifier of PIGA-CDG through pedigree analysis of a family with incomplete penetrance and functional testing in Drosophila.
Thorpe HJ et al.
Biorxiv : the Preprint Server for Biology, 2024
GPI-anchoring disorders and the heart: Is cardiomyopathy an overlooked feature?
Bayat A et al.
Clinical Genetics, 2023
The correlation between multiple congenital anomalies hypotonia seizures syndrome 2 and PIGA: a case of novel PIGA germline variant and literature review.
Liu X et al.
Molecular Biology Reports, 2022
Deciphering the premature mortality in PIGA-CDG - An untold story.
Bayat A et al.
Epilepsy Research, 2021
Lessons learned from 40 novel PIGA patients and a review of the literature.
Bayat A et al.
Epilepsia, 2020
A Novel Mutation in PIGA Associated with Multiple Congenital Anomalies-Hypotonia-Seizure Syndrome 2 (MCAHS2) in a Boy with a Combination of Severe Epilepsy and Gingival Hyperplasia.
Neuhofer CM et al.
Molecular Syndromology, 2020
A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.
Yang J et al.
Molecular Genetics & Genomic Medicine, 2018
Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality.
Belet S et al.
Human Mutation, 2014
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.
Swoboda KJ et al.
American Journal of Medical Genetics. Part A, 2014
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