相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Analysis of CHRNA7 Rare Variants in Autism Spectrum Disorder Susceptibility
Elena Bacchelli et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2015)
The human clinical phenotypes of altered CHRNA7 copy number
Madelyn A. Gillentine et al.
BIOCHEMICAL PHARMACOLOGY (2015)
The interaction between maternal immune activation and alpha 7 nicotinic acetylcholine receptor in regulating behaviors in the offspring
Wei-Li Wu et al.
BRAIN BEHAVIOR AND IMMUNITY (2015)
Maximizing the effect of an α7 nicotinic receptor PAM in a mouse model of schizophrenia-like sensory inhibition deficits
Karen E. Stevens et al.
BRAIN RESEARCH (2015)
The human CHRNA7 and CHRFAM7A genes: A review of the genetics, regulation, and function
Melissa L. Sinkus et al.
NEUROPHARMACOLOGY (2015)
Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit development
Daniel W. Meechan et al.
PROGRESS IN NEUROBIOLOGY (2015)
Analysis of the CHRNA7 gene mutation and polymorphism in Southern Han Chinese patients with nocturnal frontal epilepsy
Zhi-Hong Chen et al.
ASIAN PACIFIC JOURNAL OF TROPICAL MEDICINE (2015)
Dopamine in socioecological and evolutionary perspectives: implications for psychiatric disorders
Yoshie Yamaguchi et al.
FRONTIERS IN NEUROSCIENCE (2015)
Phenotypic differences in hiPSC NPCs derived from patients with schizophrenia
K. Brennand et al.
MOLECULAR PSYCHIATRY (2015)
Transcriptional Consequences of 16p11.2 Deletion and Duplication in Mouse Cortex and Multiplex Autism Families
Ian Blumenthal et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
The 22q11.2 Deletion Syndrome as a Window into Complex Neuropsychiatric Disorders Over the Lifespan
Rachel K. Jonas et al.
BIOLOGICAL PSYCHIATRY (2014)
A Mouse Model that Recapitulates Cardinal Features of the 15q13.3 Microdeletion Syndrome Including Schizophrenia- and Epilepsy-Related Alterations
Kim Fejgin et al.
BIOLOGICAL PSYCHIATRY (2014)
Reciprocal Duplication of the Williams-Beuren Syndrome Deletion on Chromosome 7q11.23 Is Associated with Schizophrenia
Jennifer Gladys Mulle et al.
BIOLOGICAL PSYCHIATRY (2014)
The Penetrance of Copy Number Variations for Schizophrenia and Developmental Delay
George Kirov et al.
BIOLOGICAL PSYCHIATRY (2014)
Analysis of copy number variations at 15 schizophrenia-associated loci
Elliott Rees et al.
BRITISH JOURNAL OF PSYCHIATRY (2014)
Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies
Johanna A. Jaehn et al.
EPILEPSY RESEARCH (2014)
Genome-wide analysis of rare copy number variations reveals PARK2 as a candidate gene for attention-deficit/hyperactivity disorder
I. Jarick et al.
MOLECULAR PSYCHIATRY (2014)
Neuroanatomical phenotypes in a mouse model of the 22q11.2 microdeletion
J. Ellegood et al.
MOLECULAR PSYCHIATRY (2014)
Evidence that duplications of 22q11.2 protect against schizophrenia
E. Rees et al.
MOLECULAR PSYCHIATRY (2014)
CNVs conferring risk of autism or schizophrenia affect cognition in controls
Hreinn Stefansson et al.
NATURE (2014)
Refining analyses of copy number variation identifies specific genes associated with developmental delay
Bradley P. Coe et al.
NATURE GENETICS (2014)
Most genetic risk for autism resides with common variation
Trent Gaugler et al.
NATURE GENETICS (2014)
Comprehensive survey of CNVs influencing gene expression in the human brain and its implications for pathophysiology
Divya Mehta et al.
NEUROSCIENCE RESEARCH (2014)
Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism
Iuliana Ionita-Laza et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2014)
Novel rare variants in F-box protein 45 (FBXO45) in schizophrenia
Chenyao Wang et al.
SCHIZOPHRENIA RESEARCH (2014)
Optimizing neuronal differentiation from induced pluripotent stem cells to model ASD
Dae-Sung Kim et al.
FRONTIERS IN CELLULAR NEUROSCIENCE (2014)
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
Claire S. Leblond et al.
PLOS GENETICS (2014)
The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines (vol 4, pg e374, 2014)
M. Pathania et al.
TRANSLATIONAL PSYCHIATRY (2014)
iPSCs and small molecules: a reciprocal effort towards better approaches for drug discovery
Ru Zhang et al.
ACTA PHARMACOLOGICA SINICA (2013)
Genetic Counseling for Susceptibility Loci and Neurodevelopmental Disorders: The del15q11.2 as an Example
Veerle De Wolf et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption
Alex R. Paciorkowski et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2013)
Derepression of a Neuronal Inhibitor due to miRNA Dysregulation in a Schizophrenia-Related Microdeletion
Bin Xu et al.
CELL (2013)
Identification of single gene deletions at15q13.3: further evidence that CHRNA7 causes the 15q13.3 microdeletion syndrome phenotype
N. Hoppman-Chaney et al.
CLINICAL GENETICS (2013)
Estimates of penetrance for recurrent pathogenic copy-number variations
Jill A. Rosenfeld et al.
GENETICS IN MEDICINE (2013)
Global increases in both common and rare copy number load associated with autism
Santhosh Girirajan et al.
HUMAN MOLECULAR GENETICS (2013)
The Pattern of Cortical Dysfunction in a Mouse Model of a Schizophrenia-Related Microdeletion
Karine Fenelon et al.
JOURNAL OF NEUROSCIENCE (2013)
Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence (vol 12, pg 406, 2013)
A. Moreno-De-Luca et al.
LANCET NEUROLOGY (2013)
Using C-elegans to Decipher the Cellular and Molecular Mechanisms Underlying Neurodevelopmental Disorders
Carlos Bessa et al.
MOLECULAR NEUROBIOLOGY (2013)
Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts
D. Moreno-De-Luca et al.
MOLECULAR PSYCHIATRY (2013)
Copy number variation at 22q11.2: from rare variants to common mechanisms of developmental neuropsychiatric disorders
N. Hiroi et al.
MOLECULAR PSYCHIATRY (2013)
Copy number variants are frequent in genetic generalized epilepsy with intellectual disability
Saul A. Mullen et al.
NEUROLOGY (2013)
Implication of a Rare Deletion at Distal 16p11.2 in Schizophrenia
Saurav Guha et al.
JAMA PSYCHIATRY (2013)
Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence
Andres Moreno-De-Luca et al.
LANCET NEUROLOGY (2013)
Genome-wide Transcriptome Profiling Reveals the Functional Impact of Rare De Novo and Recurrent CNVs in Autism Spectrum Disorders
Rui Luo et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
The genetic variability and commonality of neurodevelopmental disease
Bradley P. Coe et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2012)
Genome-Wide Analysis of Copy Number Variants in Attention Deficit Hyperactivity Disorder: The Role of Rare Variants and Duplications at 15q13.3
Nigel M. Williams et al.
AMERICAN JOURNAL OF PSYCHIATRY (2012)
Analysis of Copy Number Variations in Brain DNA from Patients with Schizophrenia and Other Psychiatric Disorders
Tianzhang Ye et al.
BIOLOGICAL PSYCHIATRY (2012)
Regulation of synaptic functions in central nervous system by endocrine hormones and the maintenance of energy homoeostasis
Zhiping P. Pang et al.
BIOSCIENCE REPORTS (2012)
CNVs: Harbingers of a Rare Variant Revolution in Psychiatric Genetics
Dheeraj Malhotra et al.
CELL (2012)
Mutant mouse models of autism spectrum disorders
Giovanni Provenzano et al.
DISEASE MARKERS (2012)
Modeling psychiatric disorders through reprogramming
Kristen J. Brennand et al.
DISEASE MODELS & MECHANISMS (2012)
Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes
Jill A. Rosenfeld et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy
Yuwu Jiang et al.
HUMAN GENETICS (2012)
Alpha7 Nicotinic Acetylcholine Receptor Is a Target in Pharmacology and Toxicology
Miroslav Pohanka
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2012)
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders
Flore Zufferey et al.
JOURNAL OF MEDICAL GENETICS (2012)
Genome-wide survey implicates the influence of copy number variants (CNVs) in the development of early-onset bipolar disorder
L. Priebe et al.
MOLECULAR PSYCHIATRY (2012)
De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia
G. Kirov et al.
MOLECULAR PSYCHIATRY (2012)
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant
Christelle Golzio et al.
NATURE (2012)
Haploinsufficiency of Cyfip1 Produces Fragile X-Like Phenotypes in Mice
Ozlem Bozdagi et al.
PLOS ONE (2012)
Cxcr4 regulation of interneuron migration is disrupted in 22q11.2 deletion syndrome
Daniel W. Meechan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2012)
Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
Claire S. Leblond et al.
PLOS GENETICS (2012)
Evidence of novel fine-scale structural variation at autism spectrum disorder candidate loci
Dale J. Hedges et al.
MOLECULAR AUTISM (2012)
Animal Models of Psychiatric Disorders That Reflect Human Copy Number Variation
Jun Nomura et al.
NEURAL PLASTICITY (2012)
The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex Neurogenesis
Mehmet Bakircioglu et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Human Mutations in NDE1 Cause Extreme Microcephaly with Lissencephaly
Fowzan S. Alkuraya et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2011)
Copy Number Variants in Schizophrenia: Confirmation of Five Previous Findings and New Evidence for 3q29 Microdeletions and VIPR2 Duplications
Douglas F. Levinson et al.
AMERICAN JOURNAL OF PSYCHIATRY (2011)
Rare copy number variants are an important cause of epileptic encephalopathies
Heather C. Mefford et al.
ANNALS OF NEUROLOGY (2011)
Cognitive, Behavioural and Psychiatric Phenotype in 22q11.2 Deletion Syndrome
Nicole Philip et al.
BEHAVIOR GENETICS (2011)
The Human Brain in a Dish: The Promise of iPSC-Derived Neurons
Ricardo Dolmetsch et al.
CELL (2011)
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities
Erin B. Kaminsky et al.
GENETICS IN MEDICINE (2011)
Relating CNVs to transcriptome data at fine resolution: Assessment of the effect of variant size, type, and overlap with functional regions
Andreas Schlattl et al.
GENOME RESEARCH (2011)
Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: a susceptibility region for neurological dysfunction including developmental and language delay
Rachel D. Burnside et al.
HUMAN GENETICS (2011)
The 22q11.2 microdeletion: Fifteen years of insights into the genetic and neural complexity of psychiatric disorders
Liam J. Drew et al.
INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE (2011)
Regulation of molecular pathways in the Fragile X Syndrome: insights into Autism Spectrum Disorders
Silvia De Rubeis et al.
JOURNAL OF NEURODEVELOPMENTAL DISORDERS (2011)
Evidence for altered hippocampal function in a mouse model of the human 22q11.2 microdeletion
Liam J. Drew et al.
MOLECULAR AND CELLULAR NEUROSCIENCE (2011)
Modelling schizophrenia using human induced pluripotent stem cells
Kristen J. Brennand et al.
NATURE (2011)
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
Sebastien Jacquemont et al.
NATURE (2011)
A copy number variation morbidity map of developmental delay
Gregory M. Cooper et al.
NATURE GENETICS (2011)
Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders
Dan Levy et al.
NEURON (2011)
Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism
Stephan J. Sanders et al.
NEURON (2011)
Understanding the impact of 1q21.1 copy number variant
Chansonette Harvard et al.
ORPHANET JOURNAL OF RARE DISEASES (2011)
Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism
Guy Horev et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)
From Toxins Targeting Ligand Gated Ion Channels to Therapeutic Molecules
Adak Nasiripourdori et al.
TOXINS (2011)
Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy Syndromes
Erin L. Heinzen et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Microdeletions of 3q29 Confer High Risk for Schizophrenia
Jennifer Gladys Mulle et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
David T. Miller et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Autistic and Psychiatric Findings Associated With the 3q29 Microdeletion Syndrome: Case Report and Review
Fabiola Quintero-Rivera et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies
Carolien G. F. de Kovel et al.
BRAIN (2010)
Delineation of 15q13.3 microdeletions
A. Masurel-Paulet et al.
CLINICAL GENETICS (2010)
Critical Role of the Src Homology 2 (SH2) Domain of Neuronal SH2B1 in the Regulation of Body Weight and Glucose Homeostasis in Mice
David L. Morris et al.
ENDOCRINOLOGY (2010)
Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity
Ruxandra Bachmann-Gagescu et al.
GENETICS IN MEDICINE (2010)
Penetrance for copy number variants associated with schizophrenia
Evangelos Vassos et al.
HUMAN MOLECULAR GENETICS (2010)
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size
Marwan Shinawi et al.
JOURNAL OF MEDICAL GENETICS (2010)
Rare chromosomal deletions and duplications in attention-deficit hyperactivity disorder: a genome-wide analysis
Nigel M. Williams et al.
LANCET (2010)
Large, rare chromosomal deletions associated with severe early-onset obesity
Elena G. Bochukova et al.
NATURE (2010)
A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
R. G. Walters et al.
NATURE (2010)
Functional impact of global rare copy number variation in autism spectrum disorders
Dalila Pinto et al.
NATURE (2010)
Understanding variable expressivity in microdeletion syndromes
Joris A. Veltman et al.
NATURE GENETICS (2010)
A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay
Santhosh Girirajan et al.
NATURE GENETICS (2010)
Genetically complex epilepsies, copy number variants and syndrome constellations
Heather C. Mefford et al.
GENOME MEDICINE (2010)
Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies
Heather C. Mefford et al.
PLOS GENETICS (2010)
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
Helen V. Firth et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Neuropathologic Features in Adults with 22q11.2 Deletion Syndrome
T. R. Kiehl et al.
CEREBRAL CORTEX (2009)
AMP-Activated Protein Kinase Phosphorylates Retinoblastoma Protein to Control Mammalian Brain Development
Biplab Dasgupta et al.
DEVELOPMENTAL CELL (2009)
Microduplication 22q11.2: A new chromosomal syndrome
Marie-France Portnoi
EUROPEAN JOURNAL OF MEDICAL GENETICS (2009)
A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease
Heather C. Mefford et al.
GENOME RESEARCH (2009)
Genetic association analysis of copy-number variation (CNV) in human disease pathogenesis
Iuliana Ionita-Laza et al.
GENOMICS (2009)
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance
Leanne M. Dibbens et al.
HUMAN MOLECULAR GENETICS (2009)
Support for the involvement of large copy number variants in the pathogenesis of schizophrenia
George Kirov et al.
HUMAN MOLECULAR GENETICS (2009)
Disruption of contactin 4 in three subjects with autism spectrum disorder
J. Roohi et al.
JOURNAL OF MEDICAL GENETICS (2009)
Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
F. D. Hannes et al.
JOURNAL OF MEDICAL GENETICS (2009)
Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome
B. W. M. van Bon et al.
JOURNAL OF MEDICAL GENETICS (2009)
Finding the missing heritability of complex diseases
Teri A. Manolio et al.
NATURE (2009)
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
Joseph T. Glessner et al.
NATURE (2009)
Microduplications of 16p11.2 are associated with schizophrenia
Shane E. McCarthy et al.
NATURE GENETICS (2009)
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
Ingo Helbig et al.
NATURE GENETICS (2009)
Proline Affects Brain Function in 22q11DS Children with the Low Activity COMT158 Allele
Jacob A. S. Vorstman et al.
NEUROPSYCHOPHARMACOLOGY (2009)
NDE1 and NDEL1: Multimerisation, alternate splicing and DISC1 interaction
Nicholas J. Bradshaw et al.
NEUROSCIENCE LETTERS (2009)
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases
Ignatia B. Van den Veyver et al.
PRENATAL DIAGNOSIS (2009)
Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome
Daniel W. Meechan et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Neurexin 1 (NRXN1) Deletions in Schizophrenia
George Kirov et al.
SCHIZOPHRENIA BULLETIN (2009)
Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders
Jonathan Sebat et al.
TRENDS IN GENETICS (2009)
Disruption of neurexin 1 associated with autism spectrum disorder
Hyung-Goo Kim et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Microduplication 22q11.2: A benign polymorphism or a syndrome with a very large clinical variability and reduced penetrance? Report of two families
Winnie Courtens et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)
Functional characterization of NIPA2, a selective Mg2+ transporter
Angela Goytain et al.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY (2008)
The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP
Ilaria Napoli et al.
CELL (2008)
Large recurrent microdeletions associated with schizophrenia
Hreinn Stefansson et al.
NATURE (2008)
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
Andrew J. Sharp et al.
NATURE GENETICS (2008)
Common and rare variants in multifactorial susceptibility to common diseases
Walter Bodmer et al.
NATURE GENETICS (2008)
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
Nicola Brunetti-Pierri et al.
NATURE GENETICS (2008)
Association between microdeletion and microduplication at 16p11.2 and autism
Lauren A. Weiss et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes
Heather C. Mefford et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication
Blake C. Ballif et al.
MOLECULAR CYTOGENETICS (2008)
Recurrent 16p11.2 microdeletions in autism
Ravinesh A. Kumar et al.
HUMAN MOLECULAR GENETICS (2008)
Induction of pluripotent stem cells from adult human fibroblasts by defined factors
Kazutoshi Takahashi et al.
CELL (2007)
Site-specific role of catechol-O-methyltransferase in dopamine overflow within prefrontal cortex and dorsal striatum
Leonid Yavich et al.
JOURNAL OF NEUROSCIENCE (2007)
Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation
Reinhard Ullmann et al.
HUMAN MUTATION (2007)
Animal models of human disease: zebrafish swim into view
Graham J. Lieschke et al.
NATURE REVIEWS GENETICS (2007)
NIPA1(SPG6), the basis for autosomal dominant form of hereditary spastic paraplegia, encodes a functional Mg2+ transporter
Angela Goytain et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
Relative impact of nucleotide and copy number variation on gene expression phenotypes
Barbara E. Stranger et al.
SCIENCE (2007)
Neuronal SH2B1 is essential for controlling energy and glucose homeostasis
Decheng Ren et al.
JOURNAL OF CLINICAL INVESTIGATION (2007)
Global variation in copy number in the human genome
Richard Redon et al.
NATURE (2006)
Transcriptional and behavioral interaction between 22q11.2 orthologs modulates schizophrenia-related phenotypes in mice
M Paterlini et al.
NATURE NEUROSCIENCE (2005)
Genetic, developmental, and physical factors associated with attention deficit hyperactivity disorder in patients with velocardiofacial syndrome
D Gothelf et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS (2004)
Disruption of Contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome
T Fernandez et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Microduplication 22q11.2, an emerging syndrome: Clinical, cytogenetic, and molecular analysis of thirteen patients
RE Ensenauer et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Role of TBX1 in human del22q11.2 syndrome
H Yagi et al.
LANCET (2003)
NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)
S Rainier et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Association between a functional catechol O-methyltransferase gene polymorphism and schizophrenia:: Meta-analysis of case-control and family-based studies
SJ Glatt et al.
AMERICAN JOURNAL OF PSYCHIATRY (2003)
PRODH mutations and hyperprolinemia in a subset of schizophrenic patients
H Jacquet et al.
HUMAN MOLECULAR GENETICS (2002)
GCP5 and GCP6:: Two new members of the human γ-tubulin complex
SM Murphy et al.
MOLECULAR BIOLOGY OF THE CELL (2001)
The 22q11 deletion syndromes
PJ Scambler
HUMAN MOLECULAR GENETICS (2000)