A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations inPIGT

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

Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)

(2012) Miles D. Thompson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mechanism for Release of Alkaline Phosphatase Caused by Glycosylphosphatidylinositol Deficiency in Patients with Hyperphosphatasia Mental Retardation Syndrome

(2012) Yoshiko Murakami et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: Expanded clinical spectrum

(2011) Denise Horn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

From glycosylation disorders to dolichol biosynthesis defects: a new class of metabolic diseases

(2011) Vincent Cantagrel et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

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

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Reorganizing the protein space at the Universal Protein Resource (UniProt)

(2011)   NUCLEIC ACIDS RESEARCH

Database resources of the National Center for Biotechnology Information

(2011) E. W. Sayers et al.   NUCLEIC ACIDS RESEARCH

Structural remodeling, trafficking and functions of glycosylphosphatidylinositol-anchored proteins

(2011) Yusuke Maeda et al.   PROGRESS IN LIPID RESEARCH

SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

(2010) Vincent Cantagrel et al.   CELL

Differential expression of the bone and the liver tissue non-specific alkaline phosphatase isoforms in brain tissues

(2010) Isabelle Brun-Heath et al.   CELL AND TISSUE RESEARCH

Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

(2010) Kimia Kahrizi et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

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

(2010) Peter M Krawitz et al.   NATURE GENETICS

Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants

(2010) Yingrui Li et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies

(2009) Dirk J. Lefeber et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Structural remodeling of GPI anchors during biosynthesis and after attachment to proteins

(2009) Morihisa Fujita et al.   FEBS LETTERS

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Biosynthesis, Remodelling and Functions of Mammalian GPI-anchored Proteins: Recent Progress

(2008) T. Kinoshita et al.   JOURNAL OF BIOCHEMISTRY