Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype

FILTUS: a desktop GUI for fast and efficient detection of disease-causing variants, including a novel autozygosity detector

(2016) Magnus D. Vigeland et al.   BIOINFORMATICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Mutations inPIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

(2015) Biljana Ilkovski et al.   HUMAN MOLECULAR GENETICS

Biosynthesis of GPI-anchored proteins: special emphasis on GPI lipid remodeling

(2015) Taroh Kinoshita et al.   JOURNAL OF LIPID RESEARCH

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors

(2015) Christina Lam et al.   MOLECULAR GENETICS AND METABOLISM

Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation

(2014) Malcolm F. Howard et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3

(2014) Mitsuko Nakashima et al.   NEUROGENETICS

UniProt: a hub for protein information

(2014)   NUCLEIC ACIDS RESEARCH

Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy

(2014) Yoshiko Murakami et al.   PLoS 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

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

(2013) Malin Kvarnung et al.   JOURNAL OF MEDICAL GENETICS

Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations inPIGWis associated with West syndrome and hyperphosphatasia with mental retardation syndrome

(2013) Tomohiro Chiyonobu et al.   JOURNAL OF MEDICAL GENETICS

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

The Role of Phosphatases in the Initiation of Skeletal Mineralization

(2012) José Luis Millán   CALCIFIED TISSUE INTERNATIONAL

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

(2012) Pablo Cingolani et al.   FLY

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

(2012)   NATURE

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

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

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

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

(2010) Peter M Krawitz et al.   NATURE GENETICS

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

(2009) Prateek Kumar et al.   Nature Protocols