Adult neuropsychiatric expression and familial segregation of 2q13 duplications

Parental expression is overvalued in the interpretation of rare inherited variants

(2014) Gregory Costain   EUROPEAN JOURNAL OF HUMAN GENETICS

Deletion at the SLC1A1 glutamate transporter gene co-segregates with schizophrenia and bipolar schizoaffective disorder in a 5-generation family

(2013) Marina Myles-Worsley et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays

(2013) G. Costain et al.   HUMAN MOLECULAR GENETICS

Male-Biased Autosomal Effect of 16p13.11 Copy Number Variation in Neurodevelopmental Disorders

(2013) Maria Tropeano et al.   PLoS One

1q21.1 Microduplication expression in adults

(2012) Alessia Dolcetti et al.   GENETICS IN MEDICINE

Chromosomal Microarray versus Karyotyping for Prenatal Diagnosis

(2012) Ronald J. Wapner et al.   NEW ENGLAND JOURNAL OF MEDICINE

Hair pulling disorder (trichotillomania): Genes, neurobiology, and a model for understanding impulsivity and compulsivity

(2012) Christopher A. Flessner et al.   PSYCHIATRY RESEARCH

Evaluating Genetic Counseling for Family Members of Individuals With Schizophrenia in the Molecular Age

(2012) Gregory Costain et al.   SCHIZOPHRENIA BULLETIN

Evaluating Genetic Counseling for Individuals With Schizophrenia in the Molecular Age

(2012) Gregory Costain et al.   SCHIZOPHRENIA BULLETIN

Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways

(2012) Candice K. Silversides et al.   PLoS Genetics

Copy Number Variants in Schizophrenia: Confirmation of Five Previous Findings and New Evidence for 3q29 Microdeletions and VIPR2 Duplications

(2011) Douglas F. Levinson et al.   AMERICAN JOURNAL OF PSYCHIATRY

A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism

(2011) HE Yu et al.   CLINICAL GENETICS

Functional regulation of GABAA receptors in nervous system pathologies

(2011) Rochelle M Hines et al.   CURRENT OPINION IN NEUROBIOLOGY

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants

(2011) Hutton M Kearney et al.   GENETICS IN MEDICINE

Phenotype mining in CNV carriers from a population cohort †

(2011) Olli P. H. Pietiläinen et al.   HUMAN MOLECULAR GENETICS

Sex differences in reproductive fitness contribute to preferential maternal transmission of 22q11.2 deletions

(2011) G. Costain et al.   JOURNAL OF MEDICAL GENETICS

A copy number variation morbidity map of developmental delay

(2011) Gregory M Cooper et al.   NATURE GENETICS

Rare Copy Number Variation Discovery and Cross-Disorder Comparisons Identify Risk Genes for ADHD

(2011) A. C. Lionel et al.   Science Translational Medicine

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

(2010) David T. Miller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2010) Dalila Pinto et al.   NATURE

Segmental duplications mediate novel, clinically relevant chromosome rearrangements

(2009) M. Katharine Rudd 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

Strong association of de novo copy number mutations with sporadic schizophrenia

(2008) Bin Xu et al.   NATURE GENETICS