4.6 Article

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

Related references

Note: Only part of the references are listed.
Article Multidisciplinary Sciences

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders

Mari E. K. Niemi et al.

NATURE (2018)

Article Biochemistry & Molecular Biology

NAR Breacthrough Article denovo-db: a compendium of human de novo variants

Tychele N. Turner et al.

NUCLEIC ACIDS RESEARCH (2017)

Article Multidisciplinary Sciences

Prevalence and architecture of de novo mutations in developmental disorders

Jeremy F. McRae et al.

NATURE (2017)

Article Neurosciences

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

Madeleine R. Geisheker et al.

NATURE NEUROSCIENCE (2017)

Article Developmental Biology

Imp and Syp RNA-binding proteins govern decommissioning of Drosophila neural stem cells

Ching-Po Yang et al.

DEVELOPMENT (2017)

Article Biochemistry & Molecular Biology

Genomic Patterns of De Novo Mutation in Simplex Autism

Tychele N. Turner et al.

Article Genetics & Heredity

Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA

Tychele N. Turner et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

Article Genetics & Heredity

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families

Virpi M. Leppa et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2016)

Article Genetics & Heredity

Mutations in MYT1, encoding the myelin transcription factor 1, are a rare cause of OAVS

Estelle Lopez et al.

JOURNAL OF MEDICAL GENETICS (2016)

Article Neurosciences

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

Stefan H. Lelieveld et al.

NATURE NEUROSCIENCE (2016)

Article Genetics & Heredity

Excess of rare, inherited truncating mutations in autism

Niklas Krumm et al.

NATURE GENETICS (2015)

Article Biochemistry & Molecular Biology

Whole-genome sequencing of quartet families with autism spectrum disorder

Ryan K. C. Yuen et al.

NATURE MEDICINE (2015)

Article Biochemical Research Methods

Wham: Identifying Structural Variants of Biological Consequence

Zev N. Kronenberg et al.

PLOS COMPUTATIONAL BIOLOGY (2015)

Article Multidisciplinary Sciences

Synaptic, transcriptional and chromatin genes disrupted in autism

Silvia De Rubeis et al.

NATURE (2014)

Article Multidisciplinary Sciences

Genome sequencing identifies major causes of severe intellectual disability

Christian Gilissen et al.

NATURE (2014)

Article Multidisciplinary Sciences

The contribution of de novo coding mutations to autism spectrum disorder

Ivan Iossifov et al.

NATURE (2014)

Article Biotechnology & Applied Microbiology

LUMPY: a probabilistic framework for structural variant discovery

Ryan M. Layer et al.

GENOME BIOLOGY (2014)

Article Biochemical Research Methods

DELLY: structural variant discovery by integrated paired-end and split-read analysis

Tobias Rausch et al.

BIOINFORMATICS (2012)

Article Biochemistry & Molecular Biology

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders

Christian P. Schaaf et al.

HUMAN MOLECULAR GENETICS (2011)

Article Genetics & Heredity

Discovery and genotyping of genome structural polymorphism by sequencing on a population scale

Robert E. Handsaker et al.

NATURE GENETICS (2011)

Article Biochemical Research Methods

Robust relationship inference in genome-wide association studies

Ani Manichaikul et al.

BIOINFORMATICS (2010)

Article Biochemical Research Methods

Fast and accurate long-read alignment with Burrows-Wheeler transform

Heng Li et al.

BIOINFORMATICS (2010)

Article Biochemistry & Molecular Biology

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

Aaron McKenna et al.

GENOME RESEARCH (2010)

Article Genetics & Heredity

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

Santhosh Girirajan et al.

NATURE GENETICS (2010)

Editorial Material Neurosciences

The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors

Gerald D. Fischbach et al.

NEURON (2010)

Article Multidisciplinary Sciences

Diversity of Human Copy Number Variation and Multicopy Genes

Peter H. Sudmant et al.

SCIENCE (2010)

Article Multidisciplinary Sciences

p57Kip2 cooperates with Nurr1 in developing dopamine cells

B Joseph et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2003)