Phenotype mining in CNV carriers from a population cohort †

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

(2010) R. G. Walters et al.   NATURE

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

(2010) Dalila Pinto et al.   NATURE

Mixed-Handedness Is Linked to Mental Health Problems in Children and Adolescents

(2010) A. Rodriguez et al.   PEDIATRICS

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

(2010) Heather C. Mefford et al.   PLoS Genetics

Molecular (SNP) analyses of overlapping hemizygous deletions of 10q25.3 to 10qter in four patients: Evidence for HMX2 and HMX3 as candidate genes in hearing and vestibular function

(2009) Nathaniel D. Miller et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Schizophrenia in the Offspring of Antenatally Depressed Mothers in the Northern Finland 1966 Birth Cohort: Relationship to Family History of Psychosis

(2009) Pirjo Mäki et al.   AMERICAN JOURNAL OF PSYCHIATRY

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

An interstitial deletion of 7.1Mb in chromosome band 6p22.3 associated with developmental delay and dysmorphic features including heart defects, short neck, and eye abnormalities

(2009) Anna Bremer et al.   European Journal of Medical Genetics

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance

(2009) L. M. Dibbens et al.   HUMAN MOLECULAR GENETICS

Support for the involvement of large copy number variants in the pathogenesis of schizophrenia

(2009) George Kirov et al.   HUMAN MOLECULAR GENETICS

Origins and functional impact of copy number variation in the human genome

(2009) Donald F. Conrad et al.   NATURE

Neurexin 1 (NRXN1) Deletions in Schizophrenia

(2009) G. Kirov et al.   SCHIZOPHRENIA BULLETIN

Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

(2009) Ryan N Traylor et al.   Molecular Cytogenetics

The Genome-wide Patterns of Variation Expose Significant Substructure in a Founder Population

(2008) Eveliina Jakkula et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Structural Variation of Chromosomes in Autism Spectrum Disorder

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial Syndrome

(2008) Shay Ben-Shachar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Polyneuropathy, scoliosis, tall stature, and oligodontia represent novel features of the interstitial 6p deletion phenotype

(2008) Birgit Zirn et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Epilepsy in the northern Finland birth cohort 1966 with special reference to fertility

(2008) Eeva Löfgren et al.   EPILEPSY & BEHAVIOR

Rare chromosomal deletions and duplications increase risk of schizophrenia

(2008) Jennifer L. Stone et al.   NATURE

Large recurrent microdeletions associated with schizophrenia

(2008) Hreinn Stefansson et al.   NATURE

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

(2008) Andrew J Sharp et al.   NATURE GENETICS

Genome-wide association analysis of metabolic traits in a birth cohort from a founder population

(2008) Chiara Sabatti et al.   NATURE GENETICS

Integrated detection and population-genetic analysis of SNPs and copy number variation

(2008) Steven A McCarroll et al.   NATURE GENETICS

Association between Microdeletion and Microduplication at 16p11.2 and Autism

(2008) Lauren A. Weiss et al.   NEW ENGLAND JOURNAL OF MEDICINE

Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms

(2008) Sharon J. Diskin et al.   NUCLEIC ACIDS RESEARCH

Non-participation in a field survey with respect to psychiatric disorders

(2008) Marianne Haapea et al.   SCANDINAVIAN JOURNAL OF PUBLIC HEALTH

Associations between early development and outcome in schizophrenia — A 35-year follow-up of the Northern Finland 1966 Birth Cohort

(2008) Erika Jääskeläinen et al.   SCHIZOPHRENIA RESEARCH

Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia

(2008) T. Walsh et al.   SCIENCE