Genome sequencing identifies major causes of severe intellectual disability

Formation of Chimeric Genes by Copy-Number Variation as a Mutational Mechanism in Schizophrenia

(2013) Caitlin Rippey et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

(2013) Yong-hui Jiang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Spatial and Temporal Mapping of De Novo Mutations in Schizophrenia to a Fetal Prefrontal Cortical Network

(2013) Suleyman Gulsuner et al.   CELL

Pathogenic or not? Assessing the clinical relevance of copy number variants

(2013) JY Hehir-Kwa et al.   CLINICAL GENETICS

Clinical Significance of De Novo and Inherited Copy-Number Variation

(2013) Anneke T. Vulto-van Silfhout et al.   HUMAN MUTATION

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

A genomic view of mosaicism and human disease

(2013) Leslie G. Biesecker et al.   NATURE REVIEWS GENETICS

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Whole-Genome Sequencing in Autism Identifies Hot Spots for De Novo Germline Mutation

(2012) Jacob J. Michaelson et al.   CELL

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

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

(2012) Benjamin M. Neale et al.   NATURE

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Rate of de novo mutations and the importance of father’s age to disease risk

(2012) Augustine Kong et al.   NATURE

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

(2012) Brian J. O’Roak et al.   NATURE

De Novo Gene Disruptions in Children on the Autistic Spectrum

(2012) Ivan Iossifov et al.   NEURON

Genomics, Intellectual Disability, and Autism

(2012) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time

(2011) Jonathan S Berg et al.   GENETICS IN MEDICINE

Computational Techniques for Human Genome Resequencing Using Mated Gapped Reads

(2011) Paolo Carnevali et al.   JOURNAL OF COMPUTATIONAL BIOLOGY

Exome sequencing supports a de novo mutational paradigm for schizophrenia

(2011) Bin Xu et al.   NATURE GENETICS

Increased exonic de novo mutation rate in individuals with schizophrenia

(2011) Simon L Girard et al.   NATURE GENETICS

Genetics of Early Onset Cognitive Impairment

(2010) Hans Hilger Ropers   Annual Review of Genomics and Human Genetics

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy

(2010) James R. Lupski et al.   NEW ENGLAND JOURNAL OF MEDICINE

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

(2009) R. Drmanac et al.   SCIENCE