Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection

A novel c.2T > C mutation of the KDM5C/JARID1C gene in one large family with X-linked intellectual disability

(2012) Katrin Õunap et al.   European Journal of Medical Genetics

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Neuropilins lock secreted semaphorins onto plexins in a ternary signaling complex

(2012) Bert J C Janssen et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Transient expression of Xpn, an XLMR protein related to neurite extension, during brain development and participation in neurite outgrowth

(2012) T. Ishikawa et al.   NEUROSCIENCE

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE

(2012) C Nava et al.   Translational Psychiatry

Adaptor Protein Complex 4 Deficiency Causes Severe Autosomal-Recessive Intellectual Disability, Progressive Spastic Paraplegia, Shy Character, and Short Stature

(2011) Rami Abou Jamra et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome Arrays for the Detection of Copy Number Variations in Idiopathic Mental Retardation, Idiopathic Generalized Epilepsy and Neuropsychiatric Disorders: Lessons for Diagnostic Workflow and Research

(2011) R. Hochstenbach et al.   CYTOGENETIC AND GENOME RESEARCH

Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13

(2011) Minal Çalışkan et al.   HUMAN MOLECULAR GENETICS

Concurrent CIC mutations, IDH mutations, and 1p/19q loss distinguish oligodendrogliomas from other cancers

(2011) Stephen Yip et al.   JOURNAL OF PATHOLOGY

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

(2011) Hossein Najmabadi et al.   NATURE

Mutations in CIC and FUBP1 Contribute to Human Oligodendroglioma

(2011) C. Bettegowda et al.   SCIENCE

A Dual Binding Mode for RhoGTPases in Plexin Signalling

(2011) Christian H. Bell et al.   PLOS BIOLOGY

Aarskog-Scott syndrome: Clinical update and report of nine novel mutations of theFGD1gene

(2010) A. Orrico et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

(2010) A. McKenna et al.   GENOME RESEARCH

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Moving Targets That Drive Cancer Progression

(2010) Mark Shackleton   NEW ENGLAND JOURNAL OF MEDICINE

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

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

Role of H3K4 demethylases in complex neurodevelopmental diseases

(2010) Christopher Wynder et al.   Epigenomics

Spatiotemporal expression in mouse brain of Kiaa2022, a gene disrupted in two patients with severe mental retardation

(2009) Vincent Cantagrel et al.   GENE EXPRESSION PATTERNS

Gene Expression Atlas at the European Bioinformatics Institute

(2009) Misha Kapushesky et al.   NUCLEIC ACIDS RESEARCH

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

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

Axon guidance and synaptic maintenance: preclinical markers for neurodegenerative disease and therapeutics

(2009) Ling Lin et al.   TRENDS IN NEUROSCIENCES

Submicroscopic Duplications of the Hydroxysteroid Dehydrogenase HSD17B10 and the E3 Ubiquitin Ligase HUWE1 Are Associated with Mental Retardation

(2008) Guy Froyen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Semaphorin Receptor PlexinA3 Mediates Neuronal Apoptosis during Dorsal Root Ganglia Development

(2008) A. Ben-Zvi et al.   JOURNAL OF NEUROSCIENCE

The Histone Demethylase KDM5b/JARID1b Plays a Role in Cell Fate Decisions by Blocking Terminal Differentiation

(2008) B. K. Dey et al.   MOLECULAR AND CELLULAR BIOLOGY

Implementation of GenePattern within the Stanford Microarray Database

(2008) J. Hubble et al.   NUCLEIC ACIDS RESEARCH