Citation Impact
Citing Papers
2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy
2014 Standout
Widespread Parallel Evolution in Sticklebacks by Repeated Fixation of Ectodysplasin Alleles
2005 StandoutScience
High burden and pervasive positive selection of somatic mutations in normal human skin
2015 StandoutScience
Induction of interferon-stimulated gene expression and antiviral responses require protein deacetylase activity
2004 StandoutNobel
Basal Cell Carcinomas in Mice Overexpressing Sonic Hedgehog
1997 StandoutScience
Activating Smoothened mutations in sporadic basal-cell carcinoma
1998 StandoutNature
Mutational Landscape of Basal Cell Carcinomas by Whole-Exome Sequencing
2013
The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas
1996
IKKβ Links Inflammation and Tumorigenesis in a Mouse Model of Colitis-Associated Cancer
2004 Standout
Deficient natural killer cell cytotoxicity in patients with IKK-γ/NEMO mutations
2002
Mutations in the NF-κB signaling pathway: implications for human disease
2006
The Tuberous Sclerosis Complex
2006 Standout
Human genetic defects in class-switch recombination (hyper-IgM syndromes)
2001 StandoutNobel
The patched signaling pathway in tumorigenesis and development: lessons from animal models
1999
Role of Transforming Growth Factor β in Human Disease
2000 Standout
Four tumor suppressor loci on chromosome 9q in bladder cancer: evidence for two novel candidate regions at 9q22.3 and 9q31
1999
PDZ Domains: Structural Modules for Protein Complex Assembly
2002
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein
1990 Nature
Helicobacter pylori infection triggers aberrant expression of activation-induced cytidine deaminase in gastric epithelium
2007 StandoutNobel
A Mammalian patched Homolog Is Expressed in Target Tissues of sonic hedgehog and Maps to a Region Associated with Developmental Abnormalities
1996
Shared Principles in NF-κB Signaling
2008 Standout
SINTBAD, a novel component of innate antiviral immunity, shares a TBK1‐binding domain with NAP1 and TANK
2007
A comprehensive genetic map of the human genome based on 5,264 microsatellites
1996 StandoutNature
Chromosome 9 Allele Loss Occurs in both Basal and Squamous Cell Carcinomas of the Skin
1994
Induction of activation-induced cytidine deaminase gene expression by IL-4 and CD40 ligation is dependent on STAT6 and NF B
2004
New insights into nNOS regulation of vascular homeostasis
2005 StandoutNobel
Pattern Recognition Receptors and Inflammation
2010 Standout
Integration of absorption, distribution, metabolism, and elimination genotyping data into a population pharmacokinetic analysis of nevirapine
2011
The Hedgehog and Wnt signalling pathways in cancer
2001 StandoutNature
Human Models of Inherited Immunoglobulin Class Switch Recombination and Somatic Hypermutation Defects (Hyper-IgM Syndromes)
2004
Induction of Differentiation in F9 Cells and Activation of Peroxisome Proliferator-Activated Receptor δ by Valproic Acid and Its Teratogenic Derivatives
2001
Medulloblastoma Growth Inhibition by Hedgehog Pathway Blockade
2002 StandoutScience
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
1991 StandoutNature
Location on Chromosome 15 of the Gene Defect Causing Marfan Syndrome
1990
Biochemical evidence that Patched is the Hedgehog receptor
1996 StandoutNature
Primary immunodeficiencies associated with pneumococcal disease
2003
Linkage of the Gene for an Autosomal Dominant Form of Juvenile Amyotrophic Lateral Sclerosis to Chromosome 9q34
1998
Inhibition of Rel/Nuclear Factor-κB signaling in skin results in defective DNA damage-induced cell cycle arrest and Ha-ras- and p53-independent tumor development
2002
Nuclear factor-κB in cancer development and progression
2006 StandoutNature
The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes
2002
The mechanisms of immune diversification and their disorders
2003
A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function
2006 StandoutNature
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22
1997
Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia
2001
Epidemiology of Brain Tumors
2007
Effects of oncogenic mutations in Smoothened and Patched can be reversed by cyclopamine
2000 StandoutNature
Malignant Gliomas in Adults
2008 Standout
IKBKG (nuclear factor-κB essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function
2008
Atypical Forms of Incontinentia Pigmenti in Male Individuals Result from Mutations of a Cytosine Tract in Exon 10 of NEMO (IKK-γ)
2001
The CEPH Consortium Linkage Map of Human Chromosome 13
1993
Molecular mechanisms of genetic variation and transcriptional regulation of CYP2C19
2012
Human nuclear factor κB essential modulator mutation can result in immunodeficiency without ectodermal dysplasia
2004
SHARPIN is a component of the NF-κB-activating linear ubiquitin chain assembly complex
2011 Nature
Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis
1990 Standout
Mutations inEDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia
2006
Zika Virus and Birth Defects — Reviewing the Evidence for Causality
2016 Standout
Valproic acid defines a novel class of HDAC inhibitors inducing differentiation of transformed cells
2001 Standout
A Dominant Complement Fixation Pathway for Pneumococcal Polysaccharides Initiated by SIGN-R1 Interacting with C1q
2006 StandoutNobel
Valproic Acid‐Induced Neural Tube Defects in Mouse and Human: Aspects of Chirality, Alternative Drug Development, Pharmacokinetics and Possible Mechanisms
1991
TGFβ Signaling in Growth Control, Cancer, and Heritable Disorders
2000 Standout
Nuclear factor κB essential modulator–deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia
2004
Cytochrome P450 enzymes in drug metabolism: Regulation of gene expression, enzyme activities, and impact of genetic variation
2013 Standout
Endoglin, a TGF-β binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1
1994 Standout
Cancer-related inflammation
2008 StandoutNature
The Marfan syndrome locus: Confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3
1991
The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog
1996 StandoutNature
Amyotrophic Lateral Sclerosis
2001 Standout
A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency
2003
European Gene Mapping Project(EUROGEM): Genetic Maps basedon the CEPH reference families
1994 Nobel
Genetic Causes of Brain Tumors: Neurofibromatosis, Tuberous Sclerosis, von Hippel-Lindau, and Other Syndromes
2007
Genome-wide detection and characterization of positive selection in human populations
2007 StandoutNature
A mutation of Ikbkg causes immune deficiency without impairing degradation of IκBα
2010 StandoutNobel
NF-κB Family of Transcription Factors: Central Regulators of Innate and Adaptive Immune Functions
2002 Standout
Sporadic medulloblastomas contain PTCH mutations.
1997
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
1991 Standout
Systems analysis identifies an essential role for SHANK-associated RH domain-interacting protein (SHARPIN) in macrophage Toll-like receptor 2 (TLR2) responses
2011 StandoutNobel
Lysine post-translational modifications of collagen
2012
Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.
1997
Deficient natural killer cell cytotoxicity in patients with IKK-γ/NEMO mutations
2002
A family of RIM-binding proteins regulated by alternative splicing: Implications for the genesis of synaptic active zones
2002 StandoutNobel
Mutations in the human homologue of Drosophila patched (PTCH) in basal cell carcinomas and the Gorlin syndrome: different in vivo mechanisms of PTCH inactivation.
1996
Mutations in the human homologue of the Drosophila segment polarity gene patched (PTCH) in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system.
1997
DNA Mismatch Repair: Functions and Mechanisms
2005 StandoutNobel
Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families: linkage and loss of heterozygosity.
1993
Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT1 or HHT2.
1996
Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features.
1996
Requirement of NF-κB/Rel for the development of hair follicles and other epidermal appendices
2001
Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients.
1996
The Carboxyl-Terminal Region of IκB Kinase γ (IKKγ) Is Required for Full IKK Activation
2002
Death Receptor Signaling Giving Life to Ectodermal Organs
2002
Pharmacogenomics of the Triazole Antifungal Agent Voriconazole
2011
Valproic acid
1987
Nevoid Basal Cell Carcinoma Syndrome
1995
MyD88 signaling in nonhematopoietic cells protects mice against induced colitis by regulating specific EGF receptor ligands
2010 StandoutNobel
Evidence that haploinsufficiency ofPtch leads to medulloblastoma in mice
2000
Human Homolog of patched , a Candidate Gene for the Basal Cell Nevus Syndrome
1996 StandoutScience
Human microRNA genes are frequently located at fragile sites and genomic regions involved in cancers
2004 Standout
Integrating Genetic Approaches into the Discovery of Anticancer Drugs
1997 StandoutScienceNobel
Altered Neural Cell Fates and Medulloblastoma in Mouse patched Mutants
1997 StandoutScience
Niemann-Pick C1 Like 1 Protein Is Critical for Intestinal Cholesterol Absorption
2004 StandoutScience
SMART, a simple modular architecture research tool: Identification of signaling domains
1998 Standout
Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions.
1996
Chemical Glycoproteomics
2016 StandoutNobel
A strategy for constructing high-resolution genetic maps of the human genome: a genetic map of chromosome 17p, ordered with meiotic breakpoint-mapping panels.
1995
Works of Peter Farndon being referenced
Complications of the naevoid basal cell carcinoma syndrome: results of a population based study.
1993
A new polymorphic locus, D7S411, isolated by cloning from preparative pulse-field gels is close to the mutation causing cystic fibrosis
1990
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene
2000
Location of gene for Gorlin syndrome
1992
Genetic information and testing in insurance and employment: technical, social and ethical issues
2003
Analysis of 133 Meioses Places the Genes for Nevoid Basal Cell Carcinoma (Gorlin) Syndrome and Fanconi Anemia Group C in a 2.6-cM Interval and Contributes to the Fine Map of 9q22.3
1994
A recombination map of the human X-chromosome
1990
Pharmacogenetics of CYP2C19: functional and clinical implications of a new variant CYP2C19*17
2009
A Novel X-Linked Disorder of Immune Deficiency and Hypohidrotic Ectodermal Dysplasia Is Allelic to Incontinentia Pigmenti and Due to Mutations in IKK-gamma (NEMO)
2000
A Connective Tissue Disorder Caused by Mutations of the Lysyl Hydroxylase 3 Gene
2008
REPORT on the Third International Workshop on Chromosome 9
1994
An exclusion map of Marfan syndrome.
1990
The fetal valproate syndrome
1984
Male to male transmission of the G syndrome
1983
A linkage map of 10 loci flanking the Marfan syndrome locus on 15q: results of an International Consortium study.
1992