Disentangling the Myriad Genomics of Complex Disorders, Specifically Focusing on Autism, Epilepsy, and Schizophrenia

Inherited balanced translocation t(9;17)(q33.2;q25.3) concomitant with a 16p13.1 duplication in a patient with schizophrenia

(2011) Tod Fullston et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3

(2011) Jane A Hurst et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cockayne syndrome caused by paternally inherited 5Mb deletion of 10q11.2 and a frameshift mutation of ERCC6

(2011) Shailly Jain Ghai et al.   European Journal of Medical Genetics

Revisiting Mendelian disorders through exome sequencing

(2011) Chee-Seng Ku et al.   HUMAN GENETICS

Regulation of MET by FOXP2, Genes Implicated in Higher Cognitive Dysfunction and Autism Risk

(2011) Z. Mukamel et al.   JOURNAL OF NEUROSCIENCE

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

(2011) Dan Levy et al.   NEURON

Rare De Novo Variants Associated with Autism Implicate a Large Functional Network of Genes Involved in Formation and Function of Synapses

(2011) Sarah R. Gilman et al.   NEURON

Identifying Human Disease Genes through Cross-Species Gene Mapping of Evolutionary Conserved Processes

(2011) Martin Poot et al.   PLoS One

A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism

(2010) Xin-Li Huang et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Identification of a microdeletion at the 7q33-q35 disrupting the CNTNAP2 gene in a Brazilian stuttering case

(2010) Aline L. Petrin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Basic Abnormalities in Visual Processing Affect Face Processing at an Early Age in Autism Spectrum Disorder

(2010) Petra Hendrika Johanna Maria Vlamings et al.   BIOLOGICAL PSYCHIATRY

More prolonged brain activity related to gaze cueing in schizophrenia

(2010) Maurice J.C.M. Magnée et al.   CLINICAL NEUROPHYSIOLOGY

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH

(2010) Anne Chun-Hui Tsai et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

De novo rates and selection of large copy number variation

(2010) A. Itsara et al.   GENOME RESEARCH

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations

(2010) Katrin Friedrich et al.   HUMAN GENETICS

High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients

(2010) Caroline Rooryck et al.   HUMAN GENETICS

Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes

(2010) Tamim H. Shaikh et al.   HUMAN MOLECULAR GENETICS

Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex

(2010) Patrice Roll et al.   HUMAN MOLECULAR GENETICS

Phenotypic variability and genetic susceptibility to genomic disorders

(2010) S. Girirajan et al.   HUMAN MOLECULAR GENETICS

Complete ascertainment of intragenic copy number mutations (CNMs) in the CFTR gene and its implications for CNM formation at other autosomal loci

(2010) Sylvia Quemener et al.   HUMAN MUTATION

Detection of clinically relevant exonic copy-number changes by array CGH

(2010) Philip M. Boone et al.   HUMAN MUTATION

Cohen syndrome diagnosis using whole genome arrays

(2010) N. Rivera-Brugues et al.   JOURNAL OF MEDICAL GENETICS

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly

(2010) H. Darvish et al.   JOURNAL OF MEDICAL GENETICS

Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis

(2010) Nigel M Williams et al.   LANCET

A double hit implicates DIAPH3 as an autism risk gene

(2010) J A S Vorstman et al.   MOLECULAR PSYCHIATRY

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

(2010) Dalila Pinto et al.   NATURE

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

(2010) Santhosh Girirajan et al.   NATURE GENETICS

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

(2010) Sabine Endele et al.   NATURE GENETICS

Genetic Advances in the Study of Speech and Language Disorders

(2010) D.F. Newbury et al.   NEURON

Tbr1 regulates regional and laminar identity of postmitotic neurons in developing neocortex

(2010) F. Bedogni et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Rethinking the genetic architecture of schizophrenia

(2010) K. J. Mitchell et al.   PSYCHOLOGICAL MEDICINE

High-Resolution Analysis of Parent-of-Origin Allelic Expression in the Mouse Brain

(2010) C. Gregg et al.   SCIENCE

Sex-Specific Parent-of-Origin Allelic Expression in the Mouse Brain

(2010) C. Gregg et al.   SCIENCE

Key role for gene dosage and synaptic homeostasis in autism spectrum disorders

(2010) Roberto Toro et al.   TRENDS IN GENETICS

Recent advances in the genetics of language impairment

(2010) Dianne F Newbury et al.   Genome Medicine

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

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

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

A duplication including GATA4 does not co-segregate with congenital heart defects

(2009) Irene C. Joziasse et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

(2009) C. G. F. de Kovel et al.   BRAIN

Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders

(2009) HM Ozgen et al.   CLINICAL GENETICS

Chromosomal deletion unmasking a recessive disease: 22q13 deletion syndrome and metachromatic leukodystrophy

(2009) A-M Bisgaard et al.   CLINICAL GENETICS

Dominant versus recessive traits conveyed by allelic mutations - to what extent is nonsense-mediated decay involved?

(2009) S Ben-Shachar et al.   CLINICAL GENETICS

Recurrent copy number changes in mentally retarded children harbour genes involved in cellular localization and the glutamate receptor complex

(2009) Martin Poot et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Autism susceptibility candidate 2 (Auts2) encodes a nuclear protein expressed in developing brain regions implicated in autism neuropathology

(2009) Francesco Bedogni et al.   GENE EXPRESSION PATTERNS

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

Major contribution of dominant inheritance to autism spectrum disorders (ASDs) in population-based families

(2009) Takeshi Nishiyama et al.   JOURNAL OF HUMAN GENETICS

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome

(2009) B W M van Bon et al.   JOURNAL OF MEDICAL GENETICS

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes

(2009) J Elia et al.   MOLECULAR PSYCHIATRY

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

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

(2009) Donald F. Conrad et al.   NATURE

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

(2009) Ingo Helbig et al.   NATURE GENETICS

Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autism spectrum disorder

(2009) Martin Poot et al.   NEUROGENETICS

Narrowing the Boundaries of the Genetic Architecture of Schizophrenia

(2009) N. R. Wray et al.   SCHIZOPHRENIA BULLETIN

Forging Links between Human Mental Retardation–Associated CNVs and Mouse Gene Knockout Models

(2009) Caleb Webber et al.   PLoS Genetics

Structural Variation of Chromosomes in Autism Spectrum Disorder

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

Molecular Cytogenetic Analysis and Resequencing of Contactin Associated Protein-Like 2 in Autism Spectrum Disorders

(2008) Betul Bakkaloglu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion

(2008) Claudia Torniero et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Transmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties

(2008) Mary Glancy et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A 15q13.3 microdeletion segregating with autism

(2008) Alistair T Pagnamenta et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Defensins and the dynamic genome: What we can learn from structural variation at human chromosome band 8p23.1

(2008) E. J. Hollox et al.   GENOME RESEARCH

Novel microdeletion syndromes detected by chromosome microarrays

(2008) Anne M. Slavotinek   HUMAN GENETICS

Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders

(2008) D T Miller et al.   JOURNAL OF MEDICAL GENETICS

Copy-number variations associated with neuropsychiatric conditions

(2008) Edwin H. Cook Jr et al.   NATURE

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 Functional Genetic Link between Distinct Developmental Language Disorders

(2008) Sonja C. Vernes et al.   NEW ENGLAND JOURNAL OF MEDICINE