Asparagine Synthetase deficiency-report of a novel mutation and review of literature

Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report

(2016) Mohammed Zain Seidahmed et al.   BMC Neurology

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy

(2016) Carmen Barba et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

On the phenotypic spectrum of serine biosynthesis defects

(2016) Ayman W. El-Hattab et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2016) Monkol Lek et al.   NATURE

Disruption ofCLPBis associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria

(2015) José-Mario Capo-Chichi et al.   JOURNAL OF MEDICAL GENETICS

Asparagine Synthetase Deficiency causes reduced proliferation of cells under conditions of limited asparagine

(2015) Elizabeth Emma Palmer et al.   MOLECULAR GENETICS AND METABOLISM

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Mechanistic Target of Rapamycin (mTOR) in Tuberous Sclerosis Complex-Associated Epilepsy

(2015) Paolo Curatolo   PEDIATRIC NEUROLOGY

Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals

(2015) Masao Nagasaki et al.   Nature Communications

Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay

(2014) Salma Ben-Salem et al.   METABOLIC BRAIN DISEASE

Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy

(2013) Elizabeth K. Ruzzo et al.   NEURON

The NHGRI GWAS Catalog, a curated resource of SNP-trait associations

(2013) Danielle Welter et al.   NUCLEIC ACIDS RESEARCH

The UCSC Genome Browser database: extensions and updates 2013

(2012) Laurence R. Meyer et al.   NUCLEIC ACIDS RESEARCH

Childhood leukodystrophies: a clinical perspective

(2011) Alfried Kohlschütter et al.   Expert Review of Neurotherapeutics

Easy retrieval of single amino-acid polymorphisms and phenotype information using SwissVar

(2010) Anaïs Mottaz et al.   BIOINFORMATICS

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

(2010) William McLaren et al.   BIOINFORMATICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

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

(2010) A. McKenna et al.   GENOME RESEARCH

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

(2010) Jun Shen et al.   NATURE GENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS