Associated Papers
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Genetic Study and Prenatal Diagnosis of Inherited Glycosylphosphatidylinositol Disorders due to Novel Variants in Phosphatidylinositol Glycan Genes.
Zhao ZX et al.
Clinical Genetics, 2025
Prenatal Diagnosis of Fryns Syndrome through Identification of Two Novel Splice Variants in the PIGN Gene-A Case Series.
Marchetto A et al.
Life (basel, Switzerland), 2024
[Genetic analysis of a child with Multiple congenital anomalies-hypotonia-seizures syndrome 1 due to variant of PIGN gene].
Wang B et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
PIGN encephalopathy: Characterizing the epileptology.
Bayat A et al.
Epilepsia, 2022
Prenatal Genetic Diagnosis of Fetal Cystic Hygroma: A Retrospective Single-Center Study from China.
Zhou Y et al.
Cytogenetic and Genome Research, 2022
A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.
Gao D et al.
Nature Communications, 2021
Prenatal diagnosis of familial recessive PIGN mutation associated with multiple anomalies: A case report.
Sun L et al.
Taiwanese Journal of Obstetrics & Gynecology, 2021
The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.
Wu T et al.
Orphanet Journal of Rare Diseases, 2020
Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS).
Jiao X et al.
Orphanet Journal of Rare Diseases, 2020
Genetic Examination for Fetuses with Increased Fetal Nuchal Translucency by Genomic Technology.
Xue S et al.
Cytogenetic and Genome Research, 2020
Case Report: Compound Heterozygous Phosphatidylinositol-Glycan Biosynthesis Class N (PIGN) Mutations in a Chinese Fetus With Hypotonia-Seizures Syndrome 1.
Xiao SQ et al.
Frontiers in Genetics, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
[Multiple congenital anomalies-hypotonia-seizures syndrome 1: case report and review of literature].
Xu YF et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2017
Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.
McInerney-Leo AM et al.
Human Mutation, 2016
A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.
Khayat M et al.
American Journal of Medical Genetics. Part A, 2016
Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.
Fleming L et al.
American Journal of Medical Genetics. Part A, 2016
The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.
Couser NL et al.
American Journal of Medical Genetics. Part A, 2015
PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.
Ohba C et al.
Neurogenetics, 2014
Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.
Murakami Y et al.
Plos Genetics, 2014