Whole Exome Sequencing in Females with Autism Implicates Novel and Candidate Genes

Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing

(2014) Yaping Yang et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Gain-of-Function Mutations in SCN11A Cause Familial Episodic Pain

(2013) Xiang Yang Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SUMOylation negatively modulates target gene occupancy of the KDM5B, a histone lysine demethylase

(2013) Murilo TD Bueno et al.   Epigenetics

Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services

(2013) Jennifer L. Roberts et al.   GENE

ARAP2 Signals through Arf6 and Rac1 to Control Focal Adhesion Morphology

(2013) Pei-Wen Chen et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Role for Lhx2 in corticogenesis through regulation of progenitor differentiation

(2013) Shen-Ju Chou et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Excess of rare novel loss-of-function variants in synaptic genes in schizophrenia and autism spectrum disorders

(2013) E M Kenny et al.   MOLECULAR PSYCHIATRY

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

(2013) Silvia Cappello et al.   NATURE GENETICS

A blood based 12-miRNA signature of Alzheimer disease patients

(2013) Petra Leidinger et al.   GENOME BIOLOGY

Botch Promotes Neurogenesis by Antagonizing Notch

(2012) Zhikai Chi et al.   DEVELOPMENTAL CELL

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

(2012) Benjamin M. Neale et al.   NATURE

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

(2011) Asli Sirmaci et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification and characterization of a set of conserved and new regulators of cytoskeletal organization, cell morphology and migration

(2011) Siau Bai et al.   BMC BIOLOGY

ANKRD11 gene deletion in a 17-year-old male

(2011) Erin L. Youngs et al.   CLINICAL DYSMORPHOLOGY

Mutations in Traf3ip1 reveal defects in ciliogenesis, embryonic development, and altered cell size regulation

(2011) Nicolas F. Berbari et al.   DEVELOPMENTAL BIOLOGY

Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay

(2011) Rachel D. Burnside et al.   HUMAN GENETICS

Large-scale genome-wide association study of Asian population reveals genetic factors in FRMD4A and other loci influencing smoking initiation and nicotine dependence

(2011) Dankyu Yoon et al.   HUMAN GENETICS

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy

(2011) Marian A.J. Weterman et al.   HUMAN MOLECULAR GENETICS

TRIM5 is an innate immune sensor for the retrovirus capsid lattice

(2011) Thomas Pertel et al.   NATURE

Death receptor 6 negatively regulates oligodendrocyte survival, maturation and myelination

(2011) Sha Mi et al.   NATURE MEDICINE

A genome-wide association study of DSM-IV cannabis dependence

(2010) Arpana Agrawal et al.   ADDICTION BIOLOGY

Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: Congenital dislocations and vertebral changes as principal diagnostic features

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

Retinoic Acid Induced 1, RAI1: A Dosage Sensitive Gene Related to Neurobehavioral Alterations Including Autistic Behavior

(2010) Paulina Carmona-Mora et al.   CURRENT GENOMICS

Methyl-H3K9-binding protein MPP8 mediates E-cadherin gene silencing and promotes tumour cell motility and invasion

(2010) Kenji Kokura et al.   EMBO JOURNAL

Histone demethylase KDM5A is an integral part of the core Notch-RBP-J repressor complex

(2010) R. Liefke et al.   GENES & DEVELOPMENT

Nucleoporin Nup98: a gatekeeper in the eukaryotic kingdoms

(2010) Masaaki Iwamoto et al.   GENES TO CELLS

Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors

(2010) Shin-ichiro Yoshimura et al.   JOURNAL OF CELL BIOLOGY

TEX14 Interacts with CEP55 To Block Cell Abscission

(2010) T. Iwamori et al.   MOLECULAR AND CELLULAR BIOLOGY

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia

(2010) A Piton et al.   MOLECULAR PSYCHIATRY

TRIM9, a novel brain-specific E3 ubiquitin ligase, is repressed in the brain of Parkinson's disease and dementia with Lewy bodies

(2010) Kunikazu Tanji et al.   NEUROBIOLOGY OF DISEASE

Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease

(2010) Duane L. Guernsey et al.   PLoS Genetics

TRPM2variants and bipolar disorder risk: confirmation in a family-based association study

(2009) Chun Xu et al.   BIPOLAR DISORDERS

The family of ubiquitin-conjugating enzymes (E2s): deciding between life and death of proteins

(2009) Sjoerd J. L. van Wijk et al.   FASEB JOURNAL

Is gestation in Prader-Willi syndrome affected by the genetic subtype?

(2009) Merlin G. Butler et al.   JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Pirin downregulation is a feature of AML and leads to impairment of terminal myeloid differentiation

(2009) S Licciulli et al.   LEUKEMIA

Biochemical Analyses of Human IST1 and Its Function in Cytokinesis

(2009) Monika Bajorek et al.   MOLECULAR BIOLOGY OF THE CELL

Secreted semaphorins control spine distribution and morphogenesis in the postnatal CNS

(2009) Tracy S. Tran et al.   NATURE

An Autosomal Linkage Scan for Cannabis Use Disorders in the Nicotine Addiction Genetics Project

(2008) Arpana Agrawal et al.   ARCHIVES OF GENERAL PSYCHIATRY

Mutations in the calcium-related gene IL1RAPL1 are associated with autism

(2008) A. Piton et al.   HUMAN MOLECULAR GENETICS

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10

(2008) Cyril Goizet et al.   HUMAN MUTATION

SMAD proteins control DROSHA-mediated microRNA maturation

(2008) Brandi N. Davis et al.   NATURE

Novel interaction partners of Bardet-Biedl syndrome proteins

(2007) F. Oeffner et al.   CELL MOTILITY AND THE CYTOSKELETON