Citation Impact
Citing Papers
Activation and Function of the MAPKs and Their Substrates, the MAPK-Activated Protein Kinases
2011 Standout
High burden and pervasive positive selection of somatic mutations in normal human skin
2015 StandoutScience
Chromosome Abnormalities and Genetic Counseling
2011
Basal Cell Carcinomas in Mice Overexpressing Sonic Hedgehog
1997 StandoutScience
Ribonuclease H2 mutations induce a cGAS / STING ‐dependent innate immune response
2016
Activating Smoothened mutations in sporadic basal-cell carcinoma
1998 StandoutNature
Basal cell carcinomas: attack of the hedgehog
2008 Standout
Efficacy and Safety of Vismodegib in Advanced Basal-Cell Carcinoma
2012 Standout
Mutational Landscape of Basal Cell Carcinomas by Whole-Exome Sequencing
2013
Crystal structures of Lymnaea stagnalis AChBP in complex with neonicotinoid insecticides imidacloprid and clothianidin
2008
The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas
1996
Hedgehog signalling in cancer formation and maintenance
2003 Standout
Early skin-to-skin contact for mothers and their healthy newborn infants
2016 Standout
Hedgehog: functions and mechanisms
2008 Standout
Type I interferonopathies: Mendelian type I interferon up-regulation
2014
The mechanisms of Hedgehog signalling and its roles in development and disease
2013 Standout
Treatment of Medulloblastoma with Hedgehog Pathway Inhibitor GDC-0449
2009 Standout
NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21
2006 StandoutNature
The patched signaling pathway in tumorigenesis and development: lessons from animal models
1999
The role of porphyrin chemistry in tumor imaging and photodynamic therapy
2010 Standout
Regulation and function of the cGAS–STING pathway of cytosolic DNA sensing
2016 Standout
Epigenetics and the environment: emerging patterns and implications
2012 Standout
The hedgehog signalling pathway in tumorigenesis and development
1999
Function and Regulation of CREB Family Transcription Factors in the Nervous System
2002 Standout
The Hedgehog and Wnt signalling pathways in cancer
2001 StandoutNature
Genomic imprinting: the emergence of an epigenetic paradigm
2011
Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory
2005
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 ( SMAD4)
2004 Standout
Targeting the Hedgehog pathway in cancer
2006 Standout
Cleft lip and palate: understanding genetic and environmental influences
2011 Standout
Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation
1999 Standout
Cleft lip and palate
2009 Standout
The pVHL-associated SCF ubiquitin ligase complex: Molecular genetic analysis of elongin B and C, Rbx1 and HIF-1α in renal cell carcinoma
2001 StandoutNobel
Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1
2010
Inhibition of the Hedgehog Pathway in Advanced Basal-Cell Carcinoma
2009 Standout
Arthrogryposis: A Review and Update
2009
Unraveling the therapeutic potential of the Hedgehog pathway in cancer
2013 Standout
Effects of oncogenic mutations in Smoothened and Patched can be reversed by cyclopamine
2000 StandoutNature
Malignant Gliomas in Adults
2008 Standout
Control of Neuronal Precursor Proliferation in the Cerebellum by Sonic Hedgehog
1999 Standout
The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma
1997
Hedgehog signaling in animal development: paradigms and principles
2001 Standout
Germline Mutation in NLRP2 (NALP2) in a Familial Imprinting Disorder (Beckwith-Wiedemann Syndrome)
2009
The Inflammasomes
2010 Standout
Expression of KCNQ1OT1, CDKN1C, H19, and PLAGL1 and the methylation patterns at the KvDMR1 and H19/IGF2 imprinting control regions is conserved between human and bovine
2012
De Novo Hair Follicle Morphogenesis and Hair Tumors in Mice Expressing a Truncated β-Catenin in Skin
1998 Standout
Treatment of Diffuse Basal Cell Carcinomas and Basaloid Follicular Hamartomas in Nevoid Basal Cell Carcinoma Syndrome by Wide-Area 5-Aminolevulinic Acid Photodynamic Therapy
2005
Localization of a gene for Mobius syndrome to chromosome 3q by linkage analysis in a Dutch family
1996
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis
2012
Efficient generation of mouse models of human diseases via ABE- and BE-mediated base editing
2018 Standout
Health Supervision for Children With Down Syndrome
2011 Standout
Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D
2012
Hedgehog Signaling in Development and Cancer
2008 Standout
Mutations in SUFU predispose to medulloblastoma
2002 Standout
The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog
1996 StandoutNature
Genetic Causes of Brain Tumors: Neurofibromatosis, Tuberous Sclerosis, von Hippel-Lindau, and Other Syndromes
2007
Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome
1996 Nature
Overview of the Status and Global Strategy for Neonicotinoids
2010 Standout
Tumour stem cells and drug resistance
2005 Standout
ERK and p38 MAPK-Activated Protein Kinases: a Family of Protein Kinases with Diverse Biological Functions
2004 Standout
Long Noncoding RNA and Cancer: A New Paradigm
2017 Standout
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
Child Health, Developmental Plasticity, and Epigenetic Programming
2010
DAMP-sensing receptors in sterile inflammation and inflammatory diseases
2019 Standout
Gain-of-function mutations in the mechanically activated ion channel PIEZO2 cause a subtype of Distal Arthrogryposis
2013 StandoutNobel
Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome
1997
Mobius syndrome redefined
2003 Standout
Controls of Hair Follicle Cycling
2001 Standout
GSK-3: tricks of the trade for a multi-tasking kinase
2003 Standout
A survey of phenotypic features in juvenile polyposis.
1998
Nevoid Basal Cell Carcinoma Syndrome
1995
PTCH Gene Mutations in Odontogenic Keratocysts
2000
Multiple pterygium syndrome
1980
Mutations in the Homeodomain of HOXD13 Cause Syndactyly Type 1-c in Two Chinese Families
2014
Human Homolog of patched , a Candidate Gene for the Basal Cell Nevus Syndrome
1996 StandoutScience
Integrating Genetic Approaches into the Discovery of Anticancer Drugs
1997 StandoutScienceNobel
CREB: A Stimulus-Induced Transcription Factor Activated by A Diverse Array of Extracellular Signals
1999 Standout
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
Works of Christine Oley being referenced
Nevoid basal cell carcinoma syndrome: Review of 118 affected individuals
1994
Crossover analysis in a British family suggests that Coffin‐Lowry syndrome maps to a 3.4‐cM interval in Xp22
1995
Striking intrafamilial phenotypic variability in Aicardi–Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C
2013
Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies
2008
An N-terminal G11A mutation in HOXD13 causes synpolydactyly and interferes with Gli3R function during limb pre-patterning†
2012
Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)
1988
Mutations in the Embryonal Subunit of the Acetylcholine Receptor (CHRNG) Cause Lethal and Escobar Variants of Multiple Pterygium Syndrome
2006
Further localization of the gene for nevoid basal cell carcinoma syndrome (NBCCS) in 15 Australasian families: linkage and loss of heterozygosity.
1993