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

PGAP2 Mutations, Affecting the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation Syndrome

(2013) Peter M. Krawitz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability

(2013) Lars Hansen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Expanding the spectrum of phenotypes associated with germlinePIGAmutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities

(2013) Saskia N. van der Crabben et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Narrative Review: Paroxysmal Nocturnal Hemoglobinuria: The Physiology of Complement-Related Hemolytic Anemia

(2013) Robert A. Brodsky   ANNALS OF INTERNAL MEDICINE

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

Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation

(2012) Peter M. Krawitz et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in the Glycosylphosphatidylinositol Gene PIGL Cause CHIME Syndrome

(2012) Bobby G. Ng et al.   AMERICAN JOURNAL OF HUMAN GENETICS

GPI-anchor remodeling: Potential functions of GPI-anchors in intracellular trafficking and membrane dynamics

(2012) Morihisa Fujita et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Efficient Derivation and Genetic Modifications of Human Pluripotent Stem Cells on Engineered Human Feeder Cell Lines

(2012) Chunlin Zou et al.   STEM CELLS AND DEVELOPMENT

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN

(2011) G. Maydan et al.   JOURNAL OF MEDICAL GENETICS

A hyperactive piggyBac transposase for mammalian applications

(2011) K. Yusa et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetics of Early Onset Cognitive Impairment

(2010) Hans Hilger Ropers   Annual Review of Genomics and Human Genetics

Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome

(2010) Peter M Krawitz et al.   NATURE GENETICS

Use of a FLAER-Based WBC Assay in the Primary Screening of PNH Clones

(2009) D. Robert Sutherland et al.   AMERICAN JOURNAL OF CLINICAL PATHOLOGY

Dosage-Dependent Severity of the Phenotype in Patients with Mental Retardation Due to a Recurrent Copy-Number Gain at Xq28 Mediated by an Unusual Recombination

(2009) Joke Vandewalle et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The genetic landscape of intellectual disability arising from chromosome X

(2009) Jozef Gécz et al.   TRENDS IN GENETICS

MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression

(2008) Suzanna Gerarda Maria Frints et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Glycosylphosphatidylinositol-anchored protein deficiency confers resistance to apoptosis in PNH

(2008) William J. Savage et al.   EXPERIMENTAL HEMATOLOGY