Citation Impact
Citing Papers
Human Catechol- O -Methyltransferase Haplotypes Modulate Protein Expression by Altering mRNA Secondary Structure
2006 Science
A genomic region associated with protection against severe COVID-19 is inherited from Neandertals
2021 StandoutNobel
High burden and pervasive positive selection of somatic mutations in normal human skin
2015 StandoutScience
fastp: an ultra-fast all-in-one FASTQ preprocessor
2018 Standout
2014 AHA/ACC Guideline for the Management of Patients With Valvular Heart Disease
2014 Standout
Structure of the PAPP-ABP5 complex reveals mechanism of substrate recognition
2022 StandoutNobel
Age-related mutations associated with clonal hematopoietic expansion and malignancies
2014
In vivo cyclic induction of the FOXM1 transcription factor delays natural and progeroid aging phenotypes and extends healthspan
2022
Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model
2008
RIM1α and Interacting Proteins Involved in Presynaptic Plasticity Mediate Prepulse Inhibition and Additional Behaviors Linked to Schizophrenia
2010 StandoutNobel
Physiological and behavioural responsivity to stress and anxiogenic stimuli in COMT-deficient mice
2011
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity
2016
Role of glutamate in schizophrenia: integrating excitatory avenues of research
2008
A view on drug resistance in cancer
2019 StandoutNature
Liver fibrosis
2005 Standout
The neurocognitive phenotype in velo‐cardio‐facial syndrome: A developmental perspective
2008
Schizophrenia and 22q11.2 deletion syndrome
2008
The T-box factor MLS-1 acts as a molecular switch during specification of nonstriated muscle in C. elegans
2002 StandoutNobel
Catechol- O -methyltransferase gene polymorphisms are associated with multiple pain-evoking stimuli
2006
Predicting the clinical impact of human mutation with deep neural networks
2018
Tbx1 haploinsufficiency in the DiGeorge syndrome region causes aortic arch defects in mice
2001 Nature
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
2015 Standout
Hallmarks of aging: An expanding universe
2023 Standout
Abdominal aortic aneurysm
2005 Standout
Congenital heart disease in mice deficient for the DiGeorge syndrome region
1999 Nature
The ground state of embryonic stem cell self-renewal
2008 StandoutNature
Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis
2000
Multiplex assessment of protein variant abundance by massively parallel sequencing
2018
Modeling a model: Mouse genetics, 22q11.2 Deletion Syndrome, and disorders of cortical circuit development
2015
Glutamate and Schizophrenia: Phencyclidine, N‐Methyl‐d‐Aspartate Receptors, and Dopamine–Glutamate Interactions
2007
22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features
2015 Standout
Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)
2010
Progerin and telomere dysfunction collaborate to trigger cellular senescence in normal human fibroblasts
2011
REPuter: the manifold applications of repeat analysis on a genomic scale
2001 Standout
Cognitive, Behavioural and Psychiatric Phenotype in 22q11.2 Deletion Syndrome
2011
Dynamic changes in gene expression profiles of 22q11 and related orthologous genes during mouse development
2007
MEX-3 Is a KH Domain Protein That Regulates Blastomere Identity in Early C. elegans Embryos
1996 StandoutNobel
The Molecular Basis of Vascular Disorders
1999
Autism-Associated Neuroligin-3 Mutations Commonly Disrupt Tonic Endocannabinoid Signaling
2013 StandoutNobel
Progeria: A Paradigm for Translational Medicine
2014
High-performance medicine: the convergence of human and artificial intelligence
2018 Standout
Palmitoylation-dependent neurodevelopmental deficits in a mouse model of 22q11 microdeletion
2008
Proline Affects Brain Function in 22q11DS Children with the Low Activity COMT158 Allele
2008
Crystal structures of Nova-1 and Nova-2 K-homology RNA-binding domains
1999
The “All of Us” Research Program
2019 Standout
The Missing Diversity in Human Genetic Studies
2019 Standout
Neocortical excitation/inhibition balance in information processing and social dysfunction
2011 StandoutNature
Circuit-based framework for understanding neurotransmitter and risk gene interactions in schizophrenia
2008
Association between a common haplotype in the COMT gene region and psychiatric disorders in individuals with 22q11.2DS
2007
Non-B DNA conformations, mutagenesis and disease
2007
Rethinking schizophrenia
2010 StandoutNature
Insights into RNA structure and function from genome-wide studies
2014 StandoutNobel
A gene expression atlas of the central nervous system based on bacterial artificial chromosomes
2003 StandoutNature
Low-Copy Repeats Mediate the Common 3-Mb Deletion in Patients with Velo-cardio-facial Syndrome
1999
Differential gene expression in the hippocampus of the Df1/+ mice: A model for 22q11.2 deletion syndrome and schizophrenia
2007
In vivo response to high-resolution variation of Tbx1 mRNA dosage
2007
Detailed analysis of 22q11.2 with a high density MLPA probe set
2007
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
Metabolomics in premature labor: a novel approach to identify patients at risk for preterm delivery
2010
Goosecoid-like (GSCL), a candidate gene for velocardiofacial syndrome, is not essential for normal mouse development
1998
Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome
2008
Meta-analyses of genetic studies on major depressive disorder
2007
22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia
2010
Polymorphisms in microRNA target sites influence susceptibility to schizophrenia by altering the binding of miRNAs to their targets
2013
Cognition in Mouse Models of Schizophrenia Susceptibility Genes
2009
Integrated digital error suppression for improved detection of circulating tumor DNA
2016
Chromosomal microdeletions: dissecting del22q11 syndrome
2001
Regulation of α1(I) Collagen Messenger RNA Decay by Interactions with αCP at the 3′-Untranslated Region
2004
Catechol-O-methyltransferase polymorphism modulates cognitive control in children with chromosome 22q11.2 deletion syndrome
2009
Insulin-Like Growth Factor Binding Protein-5 in Physiology and Disease
2020
The Hallmarks of Aging
2013 Standout
Chromatin remodeller SMARCA4 recruits topoisomerase 1 and suppresses transcription-associated genomic instability
2016 StandoutNobel
Neurobiology of Schizophrenia
2006
The 22q11 deletion syndromes
2000
Prefrontal-Hippocampal Coupling During Memory Processing Is Modulated by COMT Val158Met Genotype
2006
Glutamate and Schizophrenia: Beyond the Dopamine Hypothesis
2006
ClinVar: public archive of interpretations of clinically relevant variants
2015 Standout
22q11.2 deletion syndrome
2015 Standout
Modeling Madness in Mice: One Piece at a Time
2006
The molecular neurobiology of depression
2008 StandoutNature
Goosecoid-like, a gene deleted in DiGeorge and velocardiofacial syndromes, recognizes DNA with a bicoid-like specificity and is expressed in the developing mouse brain
1998
The effects of gender and catechol O-methyltransferase (COMT) Val108/158Met polymorphism on emotion regulation in velo-cardio-facial syndrome (22q11.2 deletion syndrome): An fMRI study
2010
Neutrophil recruitment and function in health and inflammation
2013 Standout
Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations
2017
The Genetics of Symptom-Based Phenotypes: Toward a Molecular Classification of Schizophrenia
2008
Segmental duplications: an 'expanding' role in genomic instability and disease
2001
Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage
2004
Quadruplex DNA: sequence, topology and structure
2006 Standout
2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: Executive Summary
2020
CADD: predicting the deleteriousness of variants throughout the human genome
2018 Standout
Potential Biases in Machine Learning Algorithms Using Electronic Health Record Data
2018 Standout
Toll-Like Receptors
2003 Standout
A catechol- O -methyltransferase that is essential for auditory function in mice and humans
2008 StandoutNobel
Inactivation ofTbx1in the pharyngeal endoderm results in 22q11DS malformations
2006
Cognitive and Psychiatric Predictors to Psychosis in Velocardiofacial Syndrome: A 3-Year Follow-Up Study
2010
The Protein Kinase Complement of the Human Genome
2002 StandoutScience
Psychopathology in adults with 22q11 deletion syndrome and moderate and severe intellectual disability
2014
Decrease in topoisomerase I is responsible for activation-induced cytidine deaminase (AID)-dependent somatic hypermutation
2011 StandoutNobel
Recognition of RNA Branch Point Sequences by the KH Domain of Splicing Factor 1 (Mammalian Branch Point Binding Protein) in a Splicing Factor Complex
2001 StandoutNobel
Deletion of 150 kb in the Minimal Digeorge/Velocardiofacial Syndrome Critical Region in Mouse
1999
Next Generation of Fluorine-Containing Pharmaceuticals, Compounds Currently in Phase II–III Clinical Trials of Major Pharmaceutical Companies: New Structural Trends and Therapeutic Areas
2016 Standout
The cell-adhesion G protein-coupled receptor BAI3 is a high-affinity receptor for C1q-like proteins
2011 StandoutNobel
AID-induced decrease in topoisomerase 1 induces DNA structural alteration and DNA cleavage for class switch recombination
2009 StandoutNobel
Atypical development of the executive attention network in children with chromosome 22q11.2 deletion syndrome
2010
Tbx1 haploinsufficiency is linked to behavioral disorders in mice and humans: Implications for 22q11 deletion syndrome
2006
Machine Learning in Medicine
2019 Standout
AnFgf8mouse mutant phenocopies human 22q11 deletion syndrome
2002 StandoutNobel
ProTox-II: a webserver for the prediction of toxicity of chemicals
2018 Standout
Three phases of DiGeorge/22q11 deletion syndrome pathogenesis during brain development: Patterning, proliferation, and mitochondrial functions of 22q11 genes
2010
Characterisation of Two Major Cellular Poly(rC)-Binding Human Proteins, Each Containing Three K-homologous (KH) Domains
1995
Splicing-Directed Therapy in a New Mouse Model of Human Accelerated Aging
2011
2020 ACC/AHA Guideline for the Management of Patients With Valvular Heart Disease: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines
2020 Standout
Conditional Deletion of Focal Adhesion Kinase Leads to Defects in Ventricular Septation and Outflow Tract Alignment
2007 StandoutNobel
Temporomandibular Disorders
2008 Standout
Normal cardiovascular development in mice deficient for 16 genes in 550 kb of the velocardiofacial/ DiGeorge syndrome region
2000
Diminished dosage of 22q11 genes disrupts neurogenesis and cortical development in a mouse model of 22q11 deletion/DiGeorge syndrome
2009
Preterm labor: One syndrome, many causes
2014 StandoutScience
Calcific Aortic Valve Stenosis: Methods, Models, and Mechanisms
2011
Deficits in microRNA-mediated Cxcr4/Cxcl12 signaling in neurodevelopmental deficits in a 22q11 deletion syndrome mouse model
2013
A Novel LPS-Inducible C-Type Lectin Is a Transcriptional Target of NF-IL6 in Macrophages
1999
Histone3 lysine4 trimethylation regulated by the facilitates chromatin transcription complex is critical for DNA cleavage in class switch recombination
2010 StandoutNobel
Characterisation of Two Major Cellular Poly(rC)-Binding Human Proteins, Each Containing Three K-homologous (KH) Domains
1995
Accurate proteome-wide missense variant effect prediction with AlphaMissense
2023 StandoutScienceNobel
Neurodevelopmental Outcomes in Children With Congenital Heart Disease: Evaluation and Management
2012 Standout
Works of Birgit Funke being referenced
Analysis of TBX1 Variation in Patients with Psychotic and Affective Disorders
2007
Dysbindin Genotype and Negative Symptoms in Schizophrenia
2006
ACMG clinical laboratory standards for next-generation sequencing
2013
A gender‐moderated effect of a functional COMT polymorphism on prefrontal brain morphology and function in velo‐cardio‐facial syndrome (22q11.2 deletion syndrome)
2006
Isolation and Characterization of a Novel Gene Containing WD40 Repeats from the Region Deleted in Velo–cardio–facial/ DiGeorge Syndrome on Chromosome 22q11
2001
Mice overexpressing genes from the 22q11 region deleted in velo-cardio-facial syndrome/DiGeorge syndrome have middle and inner ear defects
2001
Mouse and Human CRKL Is Dosage Sensitive for Cardiac Outflow Tract Formation
2015
COMT genotype and manic symptoms in schizophrenia
2006
Using high-resolution variant frequencies to empower clinical genome interpretation
2017
Gene expression profile of trisomy 21 placentas: A potential approach for designing noninvasive techniques of prenatal diagnosis
2002
Characterization and Mutation Analysis of Goosecoid-like (GSCL), a Homeodomain-Containing Gene That Maps to the Critical Region for VCFS/DGS on 22q11
1997
Expression of Cdcrel-1 (Pnutl1), a gene frequently deleted in velo-cardio-facial syndrome/DiGeorge syndrome
2000
Murine protein which binds preferentially to oligo-C-rich single-stranded nucleic acids
1994
Isolation and Characterization of a Human Gene Containing a Nuclear Localization Signal from the Critical Region for Velo–Cardio–Facial Syndrome on 22q11
1998
Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in mice
2009
College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests
2014
DTNBP1 genotype influences cognitive decline in schizophrenia
2006
Genetic Misdiagnoses and the Potential for Health Disparities
2016
COMT genetic variation confers risk for psychotic and affective disorders: a case control study
2005
Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome
2006
Der(22) Syndrome and Velo-Cardio-Facial Syndrome/DiGeorge Syndrome Share a 1.5-Mb Region of Overlap on Chromosome 22q11
1999
Genetic variation in DTNBP1 influences general cognitive ability
2006
A 200-kb region of human chromosome 22q11.2 confers antipsychotic-responsive behavioral abnormalities in mice
2005
Comparative mapping of the human 22q11 chromosomal region and the orthologous region in mice reveals complex changes in gene organization
1997
The mouse poly(C)-binding protein exists in multiple isoforms and interacts with several RNA-binding proteins
1996
Cardiovascular Pathology in Hutchinson-Gilford Progeria: Correlation With the Vascular Pathology of Aging
2010