Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene
Published 2019 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Family-based exome sequencing and case-control analysis implicate CEP41 as an ASD gene
Authors
Keywords
-
Journal
Translational Psychiatry
Volume 9, Issue 1, Pages -
Publisher
Springer Nature
Online
2019-01-21
DOI
10.1038/s41398-018-0343-z
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Potential Role of Microtubule Stabilizing Agents in Neurodevelopmental Disorders
- (2017) Sara Anna Bonini et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders
- (2017) Jinchen Li et al. MOLECULAR PSYCHIATRY
- WebGestalt 2017: a more comprehensive, powerful, flexible and interactive gene set enrichment analysis toolkit
- (2017) Jing Wang et al. NUCLEIC ACIDS RESEARCH
- Caspase-8, association with Alzheimer’s Disease and functional analysis of rare variants
- (2017) Jan Rehker et al. PLoS One
- Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families
- (2017) Bashayer Al-Mubarak et al. Scientific Reports
- Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA
- (2016) Tychele N. Turner et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Brain connectivity in autism spectrum disorder
- (2016) Iman Mohammad-Rezazadeh et al. CURRENT OPINION IN NEUROLOGY
- Association of rare missense variants in the second intracellular loop of NaV1.7 sodium channels with familial autism
- (2016) M Rubinstein et al. MOLECULAR PSYCHIATRY
- Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes
- (2015) Nicola H. Chapman et al. HUMAN GENETICS
- Regulation of neuronal migration, an emerging topic in autism spectrum disorders
- (2015) Orly Reiner et al. JOURNAL OF NEUROCHEMISTRY
- Whole-genome sequencing of quartet families with autism spectrum disorder
- (2015) Ryan K C Yuen et al. NATURE MEDICINE
- Conserved Genetic Interactions between Ciliopathy Complexes Cooperatively Support Ciliogenesis and Ciliary Signaling
- (2015) Laura E. Yee et al. PLoS Genetics
- Novel Rare Missense Variations and Risk of Autism Spectrum Disorder: Whole-Exome Sequencing in Two Families with Affected Siblings and a Two-Stage Follow-Up Study in a Japanese Population
- (2015) Jun Egawa et al. PLoS One
- Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population
- (2015) Emiko Inoue et al. PLoS One
- MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing
- (2014) Evan A. Boyle et al. BIOINFORMATICS
- The Familial Risk of Autism
- (2014) Sven Sandin et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Synaptic, transcriptional and chromatin genes disrupted in autism
- (2014) Silvia De Rubeis et al. NATURE
- The contribution of de novo coding mutations to autism spectrum disorder
- (2014) Ivan Iossifov et al. NATURE
- Statistical power and significance testing in large-scale genetic studies
- (2014) Pak C. Sham et al. NATURE REVIEWS GENETICS
- Small organelle, big responsibility: the role of centrosomes in development and disease
- (2014) P. L. Chavali et al. PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES
- A de novo convergence of autism genetics and molecular neuroscience
- (2014) Niklas Krumm et al. TRENDS IN NEUROSCIENCES
- Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders
- (2014) Holly N Cukier et al. Molecular Autism
- Towards a molecular characterization of autism spectrum disorders: an exome sequencing and systems approach
- (2014) J Y An et al. Translational Psychiatry
- Rare-Variant Extensions of the Transmission Disequilibrium Test: Application to Autism Exome Sequence Data
- (2013) Zongxiao He et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Par3 controls neural crest migration by promoting microtubule catastrophe during contact inhibition of locomotion
- (2013) R. Moore et al. DEVELOPMENT
- Digenic inheritance in medical genetics
- (2013) Alejandro A Schäffer JOURNAL OF MEDICAL GENETICS
- Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations
- (2013) C Toma et al. MOLECULAR PSYCHIATRY
- Using Whole-Exome Sequencing to Identify Inherited Causes of Autism
- (2013) Timothy W. Yu et al. NEURON
- Whole-genome sequencing in an autism multiplex family
- (2013) Lingling Shi et al. Molecular Autism
- SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs)
- (2013) Brett S Abrahams et al. Molecular Autism
- A developmental and genetic classification for malformations of cortical development: update 2012
- (2012) A. James Barkovich et al. BRAIN
- Genetic architecture in autism spectrum disorder
- (2012) Bernie Devlin et al. CURRENT OPINION IN GENETICS & DEVELOPMENT
- Patterns and rates of exonic de novo mutations in autism spectrum disorders
- (2012) Benjamin M. Neale et al. NATURE
- Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
- (2012) Brian J. O’Roak et al. NATURE
- CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium
- (2012) Ji Eun Lee et al. NATURE GENETICS
- Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
- (2012) B. J. O'Roak et al. SCIENCE
- Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism
- (2012) Maria H. Chahrour et al. PLoS Genetics
- Optimizing the phenotyping of rodent ASD models: enrichment analysis of mouse and human neurobiological phenotypes associated with high-risk autism genes identifies morphological, electrophysiological, neurological, and behavioral features
- (2012) Joseph D Buxbaum et al. Molecular Autism
- Mutations in the TSGA14 gene in families with autism spectrum disorders
- (2011) O. Korvatska et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
- Autism spectrum disorders and autistic traits: A decade of new twin studies
- (2011) Angelica Ronald et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS
- Centrosomes, microtubules and neuronal development
- (2011) Marijn Kuijpers et al. MOLECULAR AND CELLULAR NEUROSCIENCE
- Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations
- (2011) Brian J O'Roak et al. NATURE GENETICS
- Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting
- (2010) Catalina Betancur BRAIN RESEARCH
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- Xenopus Meiotic Microtubule-Associated Interactome
- (2010) Vincent Gache et al. PLoS One
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- Disc1 regulates foxd3 and sox10 expression, affecting neural crest migration and differentiation
- (2009) C. M. Drerup et al. DEVELOPMENT
- Genetics and Biology of Microcephaly and Lissencephaly
- (2009) Ganeshwaran H. Mochida Seminars in Pediatric Neurology
- CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290
- (2008) Nicholas T. Gorden et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Identification of CC2D2A as a Meckel Syndrome Gene Adds an Important Piece to the Ciliopathy Puzzle
- (2008) Jonna Tallila et al. AMERICAN JOURNAL OF HUMAN GENETICS
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationPublish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn More