Citation Impact
Citing Papers
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy
2014 Standout
Wild-Type KRAS Is Required for Panitumumab Efficacy in Patients With Metastatic Colorectal Cancer
2008 Standout
Reciprocal Regulation of DUSP9 and DUSP16 Expression by HIF1 Controls ERK and p38 MAP Kinase Activity and Mediates Chemotherapy-Induced Breast Cancer Stem Cell Enrichment
2018 StandoutNobel
Honokiol induces apoptosis and autophagy via the ROS/ERK1/2 signaling pathway in human osteosarcoma cells in vitro and in vivo
2018 Standout
Computationally designed sensors detect endogenous Ras activity and signaling effectors at subcellular resolution
2024 StandoutNobel
Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management
2008
Seven Years’ Experience with 5-Aminolevulinic Acid in Detection of Transitional Cell Carcinoma of the Bladder
2007
Birth Prevalence of Congenital Heart Disease Worldwide
2011 Standout
Semisynthetic Src SH2 Domains Demonstrate Altered Phosphopeptide Specificity Induced by Incorporation of Unnatural Lysine Derivatives
2010 StandoutNobel
Identification of a novel nuclear localization signal in Tbx1 that is deleted in DiGeorge syndrome patients harboring the 1223delC mutation
2005
Pathological roles of MAPK signaling pathways in human diseases
2010 Standout
Cell Signaling by Receptor Tyrosine Kinases
2010 Standout
Do patients profit from 5-aminolevulinic acid-induced fluorescence diagnosis in transurethral resection of bladder carcinoma?
2002
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders
2008
Birth incidence and prevalence of tumor‐prone syndromes: Estimates from a UK family genetic register service
2010 Standout
22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features
2015 Standout
Ras history
2010
Melanomas acquire resistance to B-RAF(V600E) inhibition by RTK or N-RAS upregulation
2010 StandoutNature
Neural crest and cardiovascular development: A 20‐year perspective
2003
Protein tyrosine phosphatases: from genes, to function, to disease
2006
Prevalence of Muscular Dystrophies: A Systematic Literature Review
2014 Standout
ROS Function in Redox Signaling and Oxidative Stress
2014 Standout
Muscular dystrophies
2013
Sex hormones and their influence on chronic kidney disease
2018
EAU Guidelines on Non–Muscle-invasive Urothelial Carcinoma of the Bladder: Update 2013
2013 Standout
Impact of DEL22q11, trisomy 21, and other genetic syndromes on surgical outcome of conotruncal heart defects
2009
Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction
2006
Sex and gender: modifiers of health, disease, and medicine
2020 Standout
Fibroblast growth factor signalling: from development to cancer
2010 Standout
Senkung des Rezidivrisikos oberfl�chlicher Harnblasenkarzinome mittels 5-Aminol�vulins�ure-induzierter Fluoreszenzdiagnostik
2003
Single-cell analysis uncovers fibroblast heterogeneity and criteria for fibroblast and mural cell identification and discrimination
2020
Partial rescue of defects in Cited2-deficient embryos by HIF-1α heterozygosity
2006 StandoutNobel
The essence of senescence: Figure 1.
2010 Standout
Role of TBX1 in human del22q11.2 syndrome
2003
Reactive oxygen species (ROS) homeostasis and redox regulation in cellular signaling
2012 Standout
Mechanisms of drug combinations: interaction and network perspectives
2009 Standout
Developmental perspectives on copy number abnormalities of the 22q11.2 region
2010
Genetic Basis for Congenital Heart Defects: Current Knowledge
2007
Common pitfalls in preclinical cancer target validation
2017 StandoutNobel
Regulation and Function of the PD-L1 Checkpoint
2018 Standout
Photodynamic Diagnosis in Non–Muscle-Invasive Bladder Cancer: A Systematic Review and Cumulative Analysis of Prospective Studies
2009
Targeting the Raf-MEK-ERK mitogen-activated protein kinase cascade for the treatment of cancer
2007 Standout
Myasthenia gravis
2019 Standout
The evolving tumor microenvironment: From cancer initiation to metastatic outgrowth
2023 Standout
Molecular and Genetic Aspects of DiGeorge/Velocardiofacial Syndrome
2006
22q11.2 Deletions in Patients with Conotruncal Defects: Data from 1,610 Consecutive Cases
2013
Hyperactive Ras in developmental disorders and cancer
2007
Human TBX1 Missense Mutations Cause Gain of Function Resulting in the Same Phenotype as 22q11.2 Deletions
2007
Reactive oxygen species in cancer
2010 Standout
When Half Is Not Enough: Gene Expression and Dosage in the 22q11 Deletion Syndrome
2006
The changing epidemiology of congenital heart disease
2010
Recurrence and Progression of Disease in Non–Muscle-Invasive Bladder Cancer: From Epidemiology to Treatment Strategy
2009 Standout
Complex Congenital Heart Disease in Unaffected Relatives of Adults With 22q11.2 Deletion Syndrome
2011
22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot
2013
The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation
2009
The 2016 WHO Classification of Tumours of the Urinary System and Male Genital Organs—Part A: Renal, Penile, and Testicular Tumours
2016 Standout
Identification and functional analysis ofCITED2 mutations in patients with congenital heart defects
2005
Decreased DGCR8 Expression and miRNA Dysregulation in Individuals with 22q11.2 Deletion Syndrome
2014
Cardiac outflow tract anomalies
2013
Bladder cancer: Epidemiology, staging and grading, and diagnosis
2005 Standout
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1–like phenotype
2007
Computation of Conformational Coupling in Allosteric Proteins
2009 StandoutNobel
Muscular dystrophy
2013
Lectin Domains of Polypeptide GalNAc Transferases Exhibit Glycopeptide Binding Specificity
2011 StandoutNobel
Clinically Relevant Reduction in Risk of Recurrence of Superficial Bladder Cancer Using 5-Aminolevulinic Acid-Induced Fluorescence Diagnosis: 8-Year Results of Prospective Randomized Study
2007
Down syndrome
2020 Standout
22q11.2 deletion syndrome
2015 Standout
ROS signalling in the biology of cancer
2017 Standout
A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review
2009
EAU Guidelines on Non-Muscle-Invasive Urothelial Carcinoma of the Bladder
2008 Standout
Guidelines for the diagnosis and management of individuals with neurofibromatosis 1
2006 Standout
The Human and Mouse Complement of SH2 Domain Proteins—Establishing the Boundaries of Phosphotyrosine Signaling
2006
The cancer genome
2009 StandoutNature
Principles of Cancer Therapy: Oncogene and Non-oncogene Addiction
2009 Standout
SPRED 1 Mutations in a Neurofibromatosis Clinic
2010
Expression of H-RASV12 in a zebrafish model of Costello syndrome causes cellular senescence in adult proliferating cells
2008
The MAPK pathway across different malignancies: A new perspective
2014 Standout
Oncogenic transformation and experimental models of human cancer
2007
Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning
2011
Biochemical and Functional Characterization of Germ Line KRAS Mutations
2007
Hexylaminolaevulinate fluorescence cystoscopy in patients previously treated with intravesical bacille Calmette‐Guérin
2009
2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy
2011 Standout
Transurethral Resection For Bladder Cancer Using 5-Aminolevulinic Acid Induced Fluorescence Endoscopy Versus White Light Endoscopy
2002
Bladder Cancer
2020 Standout
Advances in the Understanding of the Genetic Determinants of Congenital Heart Disease and Their Impact on Clinical Outcomes
2018
ACC/AHA 2008 Guidelines for the Management of Adults With Congenital Heart Disease: Executive Summary
2008 Standout
2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death
2015 Standout
Neurodevelopmental attributes of joint hypermobility syndrome/Ehlers–Danlos syndrome, hypermobility type: Update and perspectives
2015
Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors
2009
A Comprehensive Survey of Ras Mutations in Cancer
2012 Standout
Therapeutic strategies for congenital myasthenic syndromes
2018
Psychiatric and psychological aspects in the Ehlers–Danlos syndromes
2017 Standout
Conditional Deletion of Focal Adhesion Kinase Leads to Defects in Ventricular Septation and Outflow Tract Alignment
2007 StandoutNobel
MEK1 mutations confer resistance to MEK and B-RAF inhibition
2009
Imaging and Photodynamic Therapy: Mechanisms, Monitoring, and Optimization
2010 Standout
The Neuromuscular Junction and Wide Heterogeneity of Congenital Myasthenic Syndromes
2018
Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations
2015
Neurodevelopmental Outcomes in Children With Congenital Heart Disease: Evaluation and Management
2012 Standout
Works of Anna Sárközy being referenced
Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction
2018
Skeletal muscle involvement in cardiomyopathies
2013
Spectrum of atrial septal defects associated with mutations of NKX2.5 and GATA4 transcription factors
2005
DiGeorge subtypes of nonsyndromic conotruncal defects: evidence against a major role of TBX1 Gene
2003
Leopard syndrome
2008
Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome
2004
Clinical features of the myasthenic syndrome arising from mutations in GMPPB
2016
NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome
2005
Diversity, parental germline origin, and phenotypic spectrum of de novoHRASmissense changes in Costello syndrome
2006
Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy
2013
Mutations ofZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot
2003
A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome
2004
157th ENMC International Workshop: Patient registries for rare, inherited muscular disorders 25–27 January 2008 Naarden, The Netherlands
2008
Familial transposition of the great arteries caused by multiple mutations in laterality genes
2009
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype–phenotype correlations
2009
Familial recurrence of nonsyndromic congenital heart defects in first degree relatives of patients with deletion 22q11.2
2005
Familial recurrence of congenital heart disease: an overview and review of the literature
2006
Role of 5-aminolevulinic acid in the diagnosis and treatment of superficial bladder cancer: improvement in diagnostic sensitivity
2001
Grouping of Multiple-Lentigines/LEOPARD and Noonan Syndromes on the PTPN11 Gene
2002
PTPN11 gene mutations: linking the Gln510Glu mutation to the “LEOPARD syndrome phenotype”
2006
New mutations inZFPM2/FOG2gene in tetralogy of Fallot and double outlet right ventricle
2010
22q11 Deletion syndrome: a review of some developmental biology aspects of the cardiovascular system
2006
Germline Missense Mutations Affecting KRAS Isoform B Are Associated with a Severe Noonan Syndrome Phenotype
2006
Prevalence and Clinical Significance of Cardiovascular Abnormalities in Patients With the LEOPARD Syndrome
2007