Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

(2016) Seema R. Lalani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

(2016) Laura S. Kremer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases

(2016) Rong Chen et al.   NATURE BIOTECHNOLOGY

Health and population effects of rare gene knockouts in adult humans with related parents

(2016) V. M. Narasimhan et al.   SCIENCE

Natural Variation in Gene Expression Modulates the Severity of Mutant Phenotypes

(2015) Victoria Vu et al.   CELL

Ataxia and myoclonic epilepsy due to a heterozygous new mutation inKCNA2: proposal for a new channelopathy

(2015) S.D.J. Pena et al.   CLINICAL GENETICS

Matching Two Independent Cohorts ValidatesDPH1as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies

(2015) Catrina M. Loucks et al.   HUMAN MUTATION

Identification of cis-suppression of human disease mutations by comparative genomics

(2015) Daniel M. Jordan et al.   NATURE

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

(2015) Steffen Syrbe et al.   NATURE GENETICS

Anxiety as a neurodevelopmental disorder in a neuronal subpopulation: Evidence from gene expression data

(2015) Adela Viggiano et al.   PSYCHIATRY RESEARCH

Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

(2015) Anas M. Alazami et al.   Cell Reports

Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

(2015) Mariella Simon et al.   PLoS Genetics

Consanguineous Marriage, Reproductive Behaviour and Postnatal Mortality in Contemporary Iran

(2014) Meimanat Hosseini-Chavoshi et al.   HUMAN HEREDITY

Identifying Genes Responsible for Intellectual Disability in Consanguineous Families

(2014) Zafar Iqbal et al.   HUMAN HEREDITY

De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability

(2014) S E McCarthy et al.   MOLECULAR PSYCHIATRY

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

Transcriptional landscape of the prenatal human brain

(2014) Jeremy A. Miller et al.   NATURE

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

STRING v10: protein–protein interaction networks, integrated over the tree of life

(2014) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

Mutations in C12orf57 Cause a Syndromic Form of Colobomatous Microphthalmia

(2013) Fatema Zahrani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Spatial and Temporal Mapping of De Novo Mutations in Schizophrenia to a Fetal Prefrontal Cortical Network

(2013) Suleyman Gulsuner et al.   CELL

Simvastatin for cognitive deficits and behavioural problems in patients with neurofibromatosis type 1 (NF1-SIMCODA): a randomised, placebo-controlled trial

(2013) Thijs van der Vaart et al.   LANCET NEUROLOGY

Mental health: On the spectrum

(2013) David Adam   NATURE

Mechanism-Based Treatments in Neurodevelopmental Disorders: Fragile X Syndrome

(2013) Elizabeth Berry-Kravis   PEDIATRIC NEUROLOGY

Genetics of recessive cognitive disorders

(2013) Luciana Musante et al.   TRENDS IN GENETICS

Neurodevelopmental disorders: mechanisms and boundary definitions from genomes, interactomes and proteomes

(2013) A P Mullin et al.   Translational Psychiatry

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

(2012) Michael E. Talkowski et al.   CELL

Epilepsy and autism: Is there a special relationship?

(2012) Anne T. Berg et al.   EPILEPSY & BEHAVIOR

Genetic and Epigenetic Networks in Intellectual Disabilities

(2011) Hans van Bokhoven   Annual Review of Genetics

Causes of learning disability and epilepsy: a review

(2011) Elizabeth Prince et al.   CURRENT OPINION IN NEUROLOGY

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Neuroanatomical and neurochemical bases of theory of mind

(2011) Ahmad Abu-Akel et al.   NEUROPSYCHOLOGIA

Ubiquitination in Postsynaptic Function and Plasticity

(2010) Angela M. Mabb et al.   Annual Review of Cell and Developmental Biology

Genetics of Early Onset Cognitive Impairment

(2010) Hans Hilger Ropers   Annual Review of Genomics and Human Genetics

Role of ubiquitin–proteasome-mediated proteolysis in nervous system disease

(2010) Ashok N. Hegde et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

The impact of consanguinity on neonatal and infant health

(2010) A.H. Bittles et al.   EARLY HUMAN DEVELOPMENT

Expander: from expression microarrays to networks and functions

(2010) Igor Ulitsky et al.   Nature Protocols

Control of Cognition and Adaptive Behavior by the GLP/G9a Epigenetic Suppressor Complex

(2009) Anne Schaefer et al.   NEURON

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Oligosaccharyltransferase-Subunit Mutations in Nonsyndromic Mental Retardation

(2008) Florence Molinari et al.   AMERICAN JOURNAL OF HUMAN GENETICS