A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders

(2017) Alistair T Pagnamenta et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Non-AUG translation: a new start for protein synthesis in eukaryotes

(2017) Michael G. Kearse et al.   GENES & DEVELOPMENT

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy

(2017) Devon L. Johnstone et al.   HUMAN MOLECULAR GENETICS

Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties

(2017) Junpei Tanigawa et al.   HUMAN MUTATION

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia

(2016) Periklis Makrythanasis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the phosphatidylinositol glycan C ( PIGC ) gene are associated with epilepsy and intellectual disability

(2016) Simon Edvardson et al.   JOURNAL OF MEDICAL GENETICS

Genome-wide next-generation DNA and RNA sequencing reveals a mutation that perturbs splicing of the phosphatidylinositol glycan anchor biosynthesis class H gene (PIGH) and causes arthrogryposis in Belgian Blue cattle

(2015) Arnaud Sartelet et al.   BMC GENOMICS

Mutations inPIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

(2015) Biljana Ilkovski et al.   HUMAN MOLECULAR GENETICS

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

(2015) Caroline F Wright et al.   LANCET

The genotypic and phenotypic spectrum of PIGA deficiency

(2015) Maja Tarailo-Graovac et al.   Orphanet Journal of Rare Diseases

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

(2015) Anas M. Alazami et al.   Cell Reports

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

(2014) H. C. Martin et al.   HUMAN MOLECULAR GENETICS

Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL)

(2014) Bobby G. Ng et al.   JOURNAL OF INHERITED METABOLIC DISEASE

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features

(2014) M. Kato et al.   NEUROLOGY

A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: A neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload

(2013) Kathryn J. Swoboda et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Early Frameshift Mutation inPIGAIdentified in a Large XLID Family Without Neonatal Lethality

(2013) Stefanie Belet et al.   HUMAN MUTATION

The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria

(2012) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Performance comparison of exome DNA sequencing technologies

(2011) Michael J Clark et al.   NATURE BIOTECHNOLOGY