Citation Impact
Citing Papers
Chromosome Abnormalities and Genetic Counseling
2011
Association of COMT and PRODH gene variants with intelligence quotient (IQ) and executive functions in 22q11.2DS subjects
2014
Child Development and Molecular Genetics: 14 Years Later
2012
Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model
2008
Epigenetic regulation of the glucocorticoid receptor in human brain associates with childhood abuse
2009 Standout
Functional gene group analysis identifies synaptic gene groups as risk factor for schizophrenia
2011
Multi-Dimensional Prioritization of Dental Caries Candidate Genes and Its Enriched Dense Network Modules
2013
Case–control studies show that a non-conservative amino-acid change from a glutamine to arginine in the P2RX7 purinergic receptor protein is associated with both bipolar- and unipolar-affective disorders
2008
Tbx1 regulates brain vascularization
2013
The predictive value of numerical magnitude comparison for individual differences in mathematics achievement
2009 Standout
Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit development
2015
Gene set analysis of genome-wide association studies: Methodological issues and perspectives
2011
22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features
2015 Standout
Phenotypic variability of atypical 22q11.2 deletions not includingTBX1
2012
The STRING database in 2017: quality-controlled protein–protein association networks, made broadly accessible
2016 Standout
Cognitive, Behavioural and Psychiatric Phenotype in 22q11.2 Deletion Syndrome
2011
MAGMA: Generalized Gene-Set Analysis of GWAS Data
2015 Standout
The genetics of schizophrenia and bipolar disorder: dissecting psychosis
2005
Cleft lip and palate: understanding genetic and environmental influences
2011 Standout
A network of dopaminergic gene variations implicated as risk factors for schizophrenia
2007
Analysis of single nucleotide polymorphisms in genes in the chromosome 12Q24.31 region points to P2RX7 as a susceptibility gene to bipolar affective disorder
2006
Digit ratios by computer-assisted analysis confirm lack of anatomical evidence of prenatal androgen exposure in clinical phenotypes of polycystic ovary syndrome
2010
Matrix Metalloproteinases and Other Matrix Proteinases in Relation to Cariology: The Era of ‘Dentin Degradomics'
2015 Standout
Tbx1 is a negative modulator of Mef2c
2012
Cognitive development in children with 22q11.2 deletion syndrome
2012
Williams–Beuren Syndrome
2010 Standout
The Dopamine Hypothesis of Schizophrenia: Version III--The Final Common Pathway
2009 Standout
The genetics of isolated orofacial clefts: from genotypes to subphenotypes
2009
Rethinking schizophrenia
2010 StandoutNature
Developmental perspectives on copy number abnormalities of the 22q11.2 region
2010
A gene expression atlas of the central nervous system based on bacterial artificial chromosomes
2003 StandoutNature
Physiology and Pathophysiology of Purinergic Neurotransmission
2007 Standout
In vivo response to high-resolution variation of Tbx1 mRNA dosage
2007
Functional mapping and annotation of genetic associations with FUMA
2017 Standout
The 22q11 deletion: DiGeorge and velocardiofacial syndromes and the role of TBX1
2012
Alterations in Midline Cortical Thickness and Gyrification Patterns Mapped in Children with 22q11.2 Deletions
2008
Human TBX1 Missense Mutations Cause Gain of Function Resulting in the Same Phenotype as 22q11.2 Deletions
2007
When Half Is Not Enough: Gene Expression and Dosage in the 22q11 Deletion Syndrome
2006
Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome
2008
Disease-associated epigenetic changes in monozygotic twins discordant for schizophrenia and bipolar disorder
2011 Standout
Hypomethylation of MB-COMT promoter is a major risk factor for schizophrenia and bipolar disorder
2006
Genomic Rearrangements and Gene Copy-Number Alterations as a Cause of Nervous System Disorders
2006
22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia
2010
10 Years of GWAS Discovery: Biology, Function, and Translation
2017 Standout
Why do many psychiatric disorders emerge during adolescence?
2008 Standout
Health Supervision for Children With Down Syndrome
2011 Standout
Random Forests for Genetic Association Studies
2011
22q11.2 deletion syndrome
2015 Standout
Modeling Madness in Mice: One Piece at a Time
2006
The Diagnosis of Polycystic Ovary Syndrome during Adolescence
2015 Standout
Failure of neuronal homeostasis results in common neuropsychiatric phenotypes
2008 Nature
Genetics of Food Intake Self-Regulation in Childhood: Literature Review and Research Opportunities
2013 Standout
Quadruplex DNA: sequence, topology and structure
2006 Standout
MDGAs interact selectively with neuroligin-2 but not other neuroligins to regulate inhibitory synapse development
2012 StandoutNobel
Induced chromosome deletions cause hypersociability and other features of Williams–Beuren syndrome in mice
2009
Tbx1 controls cardiac neural crest cell migration during arch artery development by regulatingGbx2expression in the pharyngeal ectoderm
2009
p53 suppression partially rescues the mutant phenotype in mouse models of DiGeorge syndrome
2014
Targeting protein palmitoylation: selective inhibitors and implications in disease
2014
Atypical deletion of 22q11.2: Detection using the FISH TBX1 probe and molecular characterization with high-density SNP arrays
2009
A General Mechanism for Network-Dosage Compensation in Gene Circuits
2010 StandoutScienceNobel
AnFgf8mouse mutant phenocopies human 22q11 deletion syndrome
2002 StandoutNobel
Three phases of DiGeorge/22q11 deletion syndrome pathogenesis during brain development: Patterning, proliferation, and mitochondrial functions of 22q11 genes
2010
Click-Chemistry Based High Throughput Screening Platform for Modulators of Ras Palmitoylation
2017 StandoutNobel
Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome
2009
Network-assisted analysis to prioritize GWAS results: principles, methods and perspectives
2013
Receptors for Purines and Pyrimidines
2012 Standout
Common circuit defect of excitatory-inhibitory balance in mouse models of autism
2009 StandoutNobel
TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-Like Craniofacial Features and Hypocalcemia
2014
Variable importance analysis: A comprehensive review
2015 Standout
The revival of the Gini importance?
2018 Standout
The Genetic Architecture of Schizophrenia: New Mutations and Emerging Paradigms
2011
A Versatile Gene-Based Test for Genome-wide Association Studies
2010
Neurodevelopmental Outcomes in Children With Congenital Heart Disease: Evaluation and Management
2012 Standout
Works of Beate Glaser being referenced
Analyses of single marker and pairwise effects of candidate loci for rheumatoid arthritis using logistic regression and random forests
2007
Strong evidence that GNB1L is associated with schizophrenia
2007
Linkage disequilibrium mapping of bipolar affective disorder at 12q23‐q24 provides evidence for association at CUX2 and FLJ32356
2004
Analysis of ProDH, COMT and ZDHHC8 risk variants does not support individual or interactive effects on schizophrenia susceptibility
2006
A Variant in LIN28B Is Associated with 2D:4D Finger-Length Ratio, a Putative Retrospective Biomarker of Prenatal Testosterone Exposure
2010
Functional Gene Group Analysis Reveals a Role of Synaptic Heterotrimeric G Proteins in Cognitive Ability
2010
No Association Between Schizophrenia and Polymorphisms in COMT in Two Large Samples
2005
Identification of a potential Bipolar risk haplotype in the gene encoding the winged-helix transcription factor RFX4
2005
Localization of Bipolar Susceptibility Locus by Molecular Genetic Analysis of the Chromosome 12q23-q24 Region in Two Pedigrees With Bipolar Disorder and Darier’s Disease
2004
Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: Implications for 22q11 deletion syndrome
2006