相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Formation of Chimeric Genes by Copy-Number Variation as a Mutational Mechanism in Schizophrenia
Caitlin Rippey et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing
Yong-hui Jiang et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Spatial and Temporal Mapping of De Novo Mutations in Schizophrenia to a Fetal Prefrontal Cortical Network
Suleyman Gulsuner et al.
CELL (2013)
Pathogenic or not? Assessing the clinical relevance of copy number variants
J. Y. Hehir-Kwa et al.
CLINICAL GENETICS (2013)
Clinical Significance of De Novo and Inherited Copy-Number Variation
Anneke T. Vulto-van Silfhout et al.
HUMAN MUTATION (2013)
De novo mutations in epileptic encephalopathies
Andrew S. Allen et al.
NATURE (2013)
A genomic view of mosaicism and human disease
Leslie G. Biesecker et al.
NATURE REVIEWS GENETICS (2013)
Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes
Slave Petrovski et al.
PLOS GENETICS (2013)
Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation
Jacob J. Michaelson et al.
CELL (2012)
Computational Techniques for Human Genome Resequencing Using Mated Gapped Reads
Paolo Carnevali et al.
JOURNAL OF COMPUTATIONAL BIOLOGY (2012)
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
Anita Rauch et al.
LANCET (2012)
Patterns and rates of exonic de novo mutations in autism spectrum disorders
Benjamin M. Neale et al.
NATURE (2012)
De novo mutations revealed by whole-exome sequencing are strongly associated with autism
Stephan J. Sanders et al.
NATURE (2012)
An integrated encyclopedia of DNA elements in the human genome
Ian Dunham et al.
NATURE (2012)
Rate of de novo mutations and the importance of father's age to disease risk
Augustine Kong et al.
NATURE (2012)
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
Brian J. O'Roak et al.
NATURE (2012)
De Novo Gene Disruptions in Children on the Autistic Spectrum
Ivan Iossifov et al.
NEURON (2012)
Genomics, Intellectual Disability, and Autism
Heather C. Mefford et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
Joep de Ligt et al.
NEW ENGLAND JOURNAL OF MEDICINE (2012)
A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
Daniel G. MacArthur et al.
SCIENCE (2012)
Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time
Jonathan S. Berg et al.
GENETICS IN MEDICINE (2011)
Exome sequencing supports a de novo mutational paradigm for schizophrenia
Bin Xu et al.
NATURE GENETICS (2011)
Increased exonic de novo mutation rate in individuals with schizophrenia
Simon L. Girard et al.
NATURE GENETICS (2011)
Genetics of Early Onset Cognitive Impairment
Hans Hilger Ropers
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 11 (2010)
A de novo paradigm for mental retardation
Lisenka E. L. M. Vissers et al.
NATURE GENETICS (2010)
Whole-Genome Sequencing in a Patient with Charcot-Marie-Tooth Neuropathy.
James R. Lupski et al.
NEW ENGLAND JOURNAL OF MEDICINE (2010)
Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays
Radoje Drmanac et al.
SCIENCE (2010)
Genome sequencing reveals Charcot-Marie-Tooth disease mutation
[Anonymous]
FUTURE NEUROLOGY (2010)
Diagnostic genome profiling in mental retardation
BBA de Vries et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport
J Kolehmainen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)