Novel West syndrome candidate genes in a Chinese cohort

Calcium Dynamics Mediated by the Endoplasmic/Sarcoplasmic Reticulum and Related Diseases

(2017) et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function

(2017) Wenjuan Chen et al.   JOURNAL OF HUMAN GENETICS

Regulation of Calcium Homeostasis by ER Redox: A Close-Up of the ER/Mitochondria Connection

(2017) Alexander L. Chernorudskiy et al.   JOURNAL OF MOLECULAR BIOLOGY

Neuronal Ryanodine Receptors in Development and Aging

(2017) Nawaf Abu-Omar et al.   MOLECULAR NEUROBIOLOGY

Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching

(2017) Ahmed Arafat et al.   Scientific Reports

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures

(2016) Slavé Petrovski et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

(2016) Candace T. Myers et al.   AMERICAN JOURNAL OF HUMAN GENETICS

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers

(2016) Dong Li et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-Sjögren syndrome and Dandy-Walker syndrome

(2016) Nan Gai et al.   CLINICA CHIMICA ACTA

Analysis copy number variation of Chinese children in early-onset epileptic encephalopathies with unknown cause

(2016) Y. Ma et al.   CLINICAL GENETICS

Infantile spasms and 15q11.2q13.1 chromosome duplication in two successive generations

(2016) Raili Sylvia Riikonen et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Endothelial nitric oxide synthase: From biochemistry and gene structure to clinical implications of NOS3 polymorphisms

(2016) Gustavo H. Oliveira-Paula et al.   GENE

Mutations in mitochondrial enzyme GPT2 cause metabolic dysfunction and neurological disease with developmental and progressive features

(2016) Qing Ouyang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The use of targeted genomic capture and massively parallel sequencing in diagnosis of Chinese Leukoencephalopathies

(2016) Xiaole Wang et al.   Scientific Reports

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

(2015) Jason A. O’Rawe et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics

(2015) Jo M. Wilmshurst et al.   EPILEPSIA

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

(2014) Silke Appenzeller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Fragile X-like behaviors and abnormal cortical dendritic spines in Cytoplasmic FMR1-interacting protein 2-mutant mice

(2014) Kihoon Han et al.   HUMAN MOLECULAR GENETICS

A Rising Titan:TTNReview and Mutation Update

(2014) Claire Chauveau et al.   HUMAN MUTATION

Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTOR

(2014) A Oguro-Ando et al.   MOLECULAR PSYCHIATRY

Fragile X Syndrome: A Review of Associated Medical Problems

(2014) S. A. Kidd et al.   PEDIATRICS

CYFIP family proteins between autism and intellectual disability: links with Fragile X syndrome

(2014) Sabiha Abekhoukh et al.   Frontiers in Cellular Neuroscience

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

(2013) Gaetan Lesca et al.   NATURE GENETICS

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

(2013) Gemma L Carvill et al.   NATURE GENETICS

Translation drives mRNA quality control

(2012) Christopher J Shoemaker et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Haploinsufficiency of Cyfip1 Produces Fragile X-Like Phenotypes in Mice

(2012) Ozlem Bozdagi et al.   PLoS One

Immune function genes CD99L2, JARID2 and TPO show association with autism spectrum disorder

(2012) Paula S Ramos et al.   Molecular Autism

Maternally Derived Microduplications at 15q11-q13: Implication of Imprinted Genes in Psychotic Illness

(2011) Andrés Ingason et al.   AMERICAN JOURNAL OF PSYCHIATRY

FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism

(2011) Jennifer C. Darnell et al.   CELL

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

(2011) Siddharth Banka et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Longitudinal follow-up of autism spectrum features and sensory behaviors in Angelman syndrome by deletion class

(2011) Sarika U. Peters et al.   JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

A non-canonical start codon in the Drosophila fragile X gene yields two functional isoforms

(2011) R.W. Beerman et al.   NEUROSCIENCE

Prader-Willi syndrome and Angelman syndrome

(2010) Karin Buiting   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy

(2010) Manju A. Kurian et al.   BRAIN

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

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

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

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

IUPHAR-DB: the IUPHAR database of G protein-coupled receptors and ion channels

(2008) Anthony J. Harmar et al.   NUCLEIC ACIDS RESEARCH