The phenotypic manifestations of rare genic CNVs in autism spectrum disorder

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders

(2014) Dalila Pinto et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Refinement and Discovery of New Hotspots of Copy-Number Variation Associated with Autism Spectrum Disorder

(2013) Santhosh Girirajan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Genetic Landscapes of Autism Spectrum Disorders

(2013) Guillaume Huguet et al.   Annual Review of Genomics and Human Genetics

Clinical Characteristics of Children with Autism Spectrum Disorder and Co-Occurring Epilepsy

(2013) Emma W. Viscidi et al.   PLoS One

Ohnologs are overrepresented in pathogenic copy number mutations

(2013) A. McLysaght et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Clinical application of 2.7M Cytogenetics array for CNV detection in subjects with idiopathic autism and/or intellectual disability

(2012) Y Qiao et al.   CLINICAL GENETICS

Individual common variants exert weak effects on the risk for autism spectrum disorders

(2012) Richard Anney et al.   HUMAN MOLECULAR GENETICS

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

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

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

(2012) Santhosh Girirajan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genome-Wide Association for Abdominal Subcutaneous and Visceral Adipose Reveals a Novel Locus for Visceral Fat in Women

(2012) Caroline S. Fox et al.   PLoS Genetics

Human Copy Number Variation and Complex Genetic Disease

(2011) Santhosh Girirajan et al.   Annual Review of Genetics

Genotype-Environment Interactions in Microsatellite Stable/Microsatellite Instability-Low Colorectal Cancer: Results from a Genome-Wide Association Study

(2011) J. C. Figueiredo et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Social responsiveness scale-aided analysis of the clinical impact of copy number variations in autism

(2011) Emma van Daalen et al.   NEUROGENETICS

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

(2011) Stephan J. Sanders et al.   NEURON

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

(2010) Daniel Moreno-De-Luca et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Permutation importance: a corrected feature importance measure

(2010) André Altmann et al.   BIOINFORMATICS

The clinical context of copy number variation in the human genome

(2010) Charles Lee et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

A genome-wide scan for common alleles affecting risk for autism

(2010) R. Anney et al.   HUMAN MOLECULAR GENETICS

Advancing paternal age and risk of autism: new evidence from a population-based study and a meta-analysis of epidemiological studies

(2010) C M Hultman et al.   MOLECULAR PSYCHIATRY

Functional impact of global rare copy number variation in autism spectrum disorders

(2010) Dalila Pinto et al.   NATURE

A genome-wide association study of alcohol dependence

(2010) L. J. Bierut et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Commercially Available Outbred Mice for Genome-Wide Association Studies

(2010) Binnaz Yalcin et al.   PLoS Genetics

Risk of Autism and Increasing Maternal and Paternal Age in a Large North American Population

(2009) J. K. Grether et al.   AMERICAN JOURNAL OF EPIDEMIOLOGY

Recurrent Rearrangements in Synaptic and Neurodevelopmental Genes and Shared Biologic Pathways in Schizophrenia, Autism, and Mental Retardation

(2009) Audrey Guilmatre et al.   ARCHIVES OF GENERAL PSYCHIATRY

Willows: a memory efficient tree and forest construction package

(2009) Heping Zhang et al.   BMC BIOINFORMATICS

Phenomic determinants of genomic variation in autism spectrum disorders

(2009) Y Qiao et al.   JOURNAL OF MEDICAL GENETICS

A genome-wide linkage and association scan reveals novel loci for autism

(2009) Lauren A. Weiss et al.   NATURE

Common genetic variants on 5p14.1 associate with autism spectrum disorders

(2009) Kai Wang et al.   NATURE

Advanced Paternal Age Is Associated with Impaired Neurocognitive Outcomes during Infancy and Childhood

(2009) Sukanta Saha et al.   PLOS MEDICINE

Advanced Parental Age and the Risk of Autism Spectrum Disorder

(2008) M. S. Durkin et al.   AMERICAN JOURNAL OF EPIDEMIOLOGY

Conditional Variable Importance for Random Forests

(2008) Carolin Strobl et al.   BMC BIOINFORMATICS

Phenotypic variations on the theme of CNVs

(2008) Michael C O'Donovan et al.   NATURE GENETICS

Decomposing the autism phenotype into familial dimensions

(2007) Peter Szatmari et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Empirical characterization of random forest variable importance measures

(2007) Kellie J. Archer et al.   COMPUTATIONAL STATISTICS & DATA ANALYSIS