The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families

Genetics of recessive cognitive disorders

(2013) Luciana Musante et al.   TRENDS IN GENETICS

Mutation in NSUN2, which Encodes an RNA Methyltransferase, Causes Autosomal-Recessive Intellectual Disability

(2012) Muzammil Ahmad Khan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability

(2012) Tjitske Kleefstra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Patterns and rates of exonic de novo mutations in autism spectrum disorders

(2012) Benjamin M. Neale et al.   NATURE

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

(2011) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic and Epigenetic Networks in Intellectual Disabilities

(2011) Hans van Bokhoven   Annual Review of Genetics

Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time

(2011) Jonathan S Berg et al.   GENETICS IN MEDICINE

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Metabotropic Glutamate Receptors: Physiology, Pharmacology, and Disease

(2010) Colleen M. Niswender et al.   Annual Review of Pharmacology and Toxicology

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

(2010) Hanka Venselaar et al.   BMC BIOINFORMATICS

The prevalence of mental retardation: a critical review of recent literature

(2010) Nel Roeleveld et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots

(2010) Andreas Walter Kuss et al.   HUMAN GENETICS

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

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

(2010) Yingrui Li et al.   NATURE GENETICS

HomozygosityMapper--an interactive approach to homozygosity mapping

(2009) D. Seelow et al.   NUCLEIC ACIDS RESEARCH

Mechanisms of synaptic depression triggered by metabotropic glutamate receptors

(2008) C. Bellone et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Roles of distinct glutamate receptors in induction of anti-Hebbian long-term potentiation

(2008) Dimitri M. Kullmann et al.   JOURNAL OF PHYSIOLOGY-LONDON

Presynaptic glutamate receptors: physiological functions and mechanisms of action

(2008) Paulo S. Pinheiro et al.   NATURE REVIEWS NEUROSCIENCE