Citation Impact
Citing Papers
Chromosome Abnormalities and Genetic Counseling
2011
Subthreshold Psychotic Symptoms in 22q11.2 Deletion Syndrome
2014
Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model
2008
Cognitive phenotype and psychiatric disorder in 22q11.2 deletion syndrome: A review
2016
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
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
Cognitive, Behavioural and Psychiatric Phenotype in 22q11.2 Deletion Syndrome
2011
Cleft lip and palate: understanding genetic and environmental influences
2011 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 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
In vivo response to high-resolution variation of Tbx1 mRNA dosage
2007
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
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
Why do many psychiatric disorders emerge during adolescence?
2008 Standout
Health Supervision for Children With Down Syndrome
2011 Standout
22q11.2 deletion syndrome
2015 Standout
Modeling Madness in Mice: One Piece at a Time
2006
Failure of neuronal homeostasis results in common neuropsychiatric phenotypes
2008 Nature
Quadruplex DNA: sequence, topology and structure
2006 Standout
Prevalence of and Potential Influencing Factors for Alcohol Dependence in Europe
2014
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
Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome
2015
p53 suppression partially rescues the mutant phenotype in mouse models of DiGeorge syndrome
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
Epidemiology ofDSM-5Alcohol Use Disorder
2015 Standout
Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome
2009
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
The Genetic Architecture of Schizophrenia: New Mutations and Emerging Paradigms
2011
Neurodevelopmental Outcomes in Children With Congenital Heart Disease: Evaluation and Management
2012 Standout
Works of Stephen Monks being referenced
Strong evidence that GNB1L is associated with schizophrenia
2007
Schizophrenia two‐hit hypothesis in velo‐cardio facial syndrome
2013
Further evidence for high rates of schizophrenia in 22q11.2 deletion syndrome
2014
Psychiatric morbidity in a cross-sectional sample of male remanded prisoners?
2005
Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: Implications for 22q11 deletion syndrome
2006