Challenges of diagnostic exome sequencing in an inbred founder population

Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1

(2012) Velina Guergueltcheva et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A missense founder mutation in VLDLR is associated with Dysequilibrium Syndrome without quadrupedal locomotion

(2012) Bassam R Ali et al.   BMC Medical Genetics

Developmental disorders of the midbrain and hindbrain

(2012) A. James Barkovich   Frontiers in Neuroanatomy

Similarities and differences in structure, expression, and functions of VLDLR and ApoER2

(2011) Sunil S Reddy et al.   Molecular Neurodegeneration

Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

(2011) Katherine R Smith et al.   GENOME BIOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy

(2010) Luis E. Kolb et al.   NEUROGENETICS

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

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

“CONE DYSTROPHY WITH SUPERNORMAL ROD ELECTRORETINOGRAM”: A COMPREHENSIVE GENOTYPE/PHENOTYPE STUDY INCLUDING FUNDUS AUTOFLUORESCENCE AND EXTENSIVE ELECTROPHYSIOLOGY

(2010) ANTHONY G. ROBSON et al.   RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Differential Functions of ApoER2 and Very Low Density Lipoprotein Receptor in Reelin Signaling Depend on Differential Sorting of the Receptors

(2009) Sarah Duit et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutations in VLDLR as a Cause for Autosomal Recessive Cerebellar Ataxia With Mental Retardation (Dysequilibrium Syndrome)

(2009) Kym M. Boycott et al.   JOURNAL OF CHILD NEUROLOGY