Citation Impact
Citing Papers
Variable phenotype of familial adenomatous polyposis in pedigrees with 3′ mutation in the APC gene
1998
The fragile X syndrome.
1998
β-Catenin Controls Hair Follicle Morphogenesis and Stem Cell Differentiation in the Skin
2001 Standout
Schizophrenia risk from complex variation of complement component 4
2016 StandoutNature
Apc1638N: A mouse model for familial adenomatous polyposis–associated desmoid tumors and cutaneous cysts
1998
Finishing the euchromatic sequence of the human genome
2004 StandoutNature
An assessment of the sequence gaps: Unfinished business in a finished human genome
2004
IKKβ Links Inflammation and Tumorigenesis in a Mouse Model of Colitis-Associated Cancer
2004 Standout
Base-excision repair of oxidative DNA damage
2007 StandoutNature
Apc1638T: a mouse model delineating critical domains of the adenomatous polyposis coli protein involved in tumorigenesis and development
1999
Psoriasis is associated with increased β-defensin genomic copy number
2007
Missense mutations interfere with VEGFR-3 signalling in primary lymphoedema
2000
β-Catenin regulates expression of cyclin D1 in colon carcinoma cells
1999 StandoutNature
Psoriasis
2009 Standout
The Chirila Keratoprosthesis: phase I human clinical trial
2002
The β-Catenin/TCF-4 Complex Imposes a Crypt Progenitor Phenotype on Colorectal Cancer Cells
2002 Standout
Neocentromeres in 15q24-26 Map to Duplicons Which Flanked an Ancestral Centromere in 15q25
2003
Large multiallelic copy number variations in humans
2015
Hydrogels in Regenerative Medicine
2009 Standout
Role for ELOVL3 and Fatty Acid Chain Length in Development of Hair and Skin Function
2004 StandoutNobel
Structural basis for triplet repeat disorders: a computational analysis
1999 StandoutNobel
American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
2011
Control of β-Catenin Phosphorylation/Degradation by a Dual-Kinase Mechanism
2002 Standout
miR-124a is required for hippocampal axogenesis and retinal cone survival through Lhx2 suppression
2011
The changing of the guard: Molecular diversity and rapid evolution of β-defensins
2006
A genome-wide comparison of recent chimpanzee and human segmental duplications
2005 StandoutNatureNobel
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
Wnt Signaling and an APC-Related Gene Specify Endoderm in Early C. elegans Embryos
1997 StandoutNobel
ELOVL3 Is an Important Component for Early Onset of Lipid Recruitment in Brown Adipose Tissue
2005 StandoutNobel
The mini-driver model of polygenic cancer evolution
2015 StandoutNobel
Detection of large-scale variation in the human genome
2004 Standout
Understanding the recent evolution of the human genome: insights from human-chimpanzee genome comparisons
2006
The Hedgehog and Wnt signalling pathways in cancer
2001 StandoutNature
The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders
2009
Enrichment of segmental duplications in regions of breaks of synteny between the human and mouse genomes suggest their involvement in evolutionary rearrangements
2003
Research Perspectives in Inherited Lymphatic Disease
2002
Lymphangiogenesis in development and human disease
2005 StandoutNature
The Rise and Fall of the Chemoattractant Receptor GPR33
2005 StandoutNobel
Metazoan MicroRNAs
2018 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
The Genetics of Autism Spectrum Disorders – A Guide for Clinicians
2012
Williams–Beuren Syndrome
2010 Standout
Wnt/β-Catenin Signaling and Disease
2012 Standout
TRINUCLEOTIDE REPEAT EXPANSION AND HUMAN DISEASE
1995
The ABC of APC
2001
Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence
2003
Defensins in innate antiviral immunity
2006
Segmental Duplications and Copy-Number Variation in the Human Genome
2005
Complex SNP-related sequence variation in segmental genome duplications
2004
The DExD/H-box helicase Dicer-2 mediates the induction of antiviral activity in drosophila
2008 StandoutNobel
The diagnosis and management of monogenic diabetes in children and adolescents
2009
Type 1 diabetes
2013 Standout
Hereditary Colorectal Cancer
2003 Standout
Analysis and Separation of Residues Important for the Chemoattractant and Antimicrobial Activities of β-Defensin 3
2008 StandoutNobel
Autism
2013 Standout
Wnt/β-Catenin Signaling in Development and Disease
2006 Standout
Genomic Rearrangements and Gene Copy-Number Alterations as a Cause of Nervous System Disorders
2006
Treatment of picornavirus infections
2002
Vertebrate pseudogenes
2000
De Novo Hair Follicle Morphogenesis and Hair Tumors in Mice Expressing a Truncated β-Catenin in Skin
1998 Standout
The 'just-right' signaling model: APC somatic mutations are selected based on a specific level of activation of the beta-catenin signaling cascade
2002
An overview of the development of artificial corneas with porous skirts and the use of PHEMA for such an application
2001
Primate defensins
2004
Analysis of Segmental Duplications and Genome Assembly in the Mouse
2004
Lectin Domains of Polypeptide GalNAc Transferases Exhibit Glycopeptide Binding Specificity
2011 StandoutNobel
Wnt signalling in stem cells and cancer
2005 StandoutNature
Crypt stem cells as the cells-of-origin of intestinal cancer
2008 StandoutNature
Submicroscopic Deletion in Patients with Williams-Beuren Syndrome Influences Expression Levels of the Nonhemizygous Flanking Genes
2006
Wnt/β-Catenin Signaling, Disease, and Emerging Therapeutic Modalities
2017 Standout
Implications of human genome architecture for rearrangement-based disorders: the genomic basis of disease
2004
β-Catenin stabilization dysregulates mesenchymal cell proliferation, motility, and invasiveness and causes aggressive fibromatosis and hyperplastic cutaneous wounds
2002 Standout
Conformational Preferences of Linear β-Defensins Are Revealed by Ion Mobility-Mass Spectrometry
2010 StandoutNobel
Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning
2011
Antifungal Agents: Mode of Action, Mechanisms of Resistance, and Correlation of These Mechanisms with Bacterial Resistance
1999 Standout
Reconstructing the DNA Methylation Maps of the Neandertal and the Denisovan
2014 StandoutScienceNobel
Carbohydrate Sulfotransferases of the GalNAc/Gal/GlcNAc6ST Family
2002 StandoutNobel
High resolution mapping of interstitial long arm deletions of chromosome 16: relationship to phenotype.
1993
A General Mechanism for Network-Dosage Compensation in Gene Circuits
2010 StandoutScienceNobel
Balloon Dilation Angioplasty of Peripheral Pulmonary Stenosis Associated With Williams Syndrome
2001
Radiocarbon Dates from the Oxford Ams System: Archaeometry Datelist 31
2002
Cloning of a human cDNA encoding a novel enzyme involved in the elongation of long-chain polyunsaturated fatty acids
2000
β-Arrestin1 modulates lymphoid enhancer factor transcriptional activity through interaction with phosphorylated dishevelled proteins
2001 StandoutNobel
Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function
2011 StandoutNobel
Early evidence of San material culture represented by organic artifacts from Border Cave, South Africa
2012 Standout
Molecular and clinical correlation study of Williams-Beuren syndrome: No evidence of molecular factors in the deletion region or imprinting affecting clinical outcome
1999
Cancer Genome Landscapes
2013 StandoutScience
Activation of β-Catenin-Tcf Signaling in Colon Cancer by Mutations in β-Catenin or APC
1997 StandoutScience
The cyclin D1 gene is a target of the β-catenin/LEF-1 pathway
1999 Standout
THE UBIQUITIN SYSTEM
1998 StandoutNobel
Irreversible Inhibitors of Serine, Cysteine, and Threonine Proteases
2002 Standout
Works of John Barber being referenced
A wooden bowl from Loch a 'Ghlinne Bhig, Bracadale, Skye
1994
Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.
1993
Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene.
1996
Inherited Interstitial Duplications of Proximal 15q: Genotype-Phenotype Correlations
1997
A de novo 4q34 interstitial deletion of at least 9.3 Mb with no discernible phenotypic effect
2010
Neurofibromatosis pseudogene amplification underlies euchromatic cytogenetic duplications and triplications of proximal 15q
1998
Amplification of a pseudogene cassette underlies euchromatic variation of 16p at the cytogenetic level
1999
3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome
2005
Transmitted duplication of 8p23.1–8p23.2 associated with speech delay, autism and learning difficulties
2008
Interstitial deletions without phenotypic effect: Prenatal diagnosis of a new family and brief review
1991
Directly transmitted unbalanced chromosome abnormalities and euchromatic variants
2005
KERATOPROSTHESES: PAST AND PRESENT
1988
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGH
2007
Unbalanced translocation in a mother and her son in one of two 5;10 translocation families
1996
Heterozygous Submicroscopic Inversions Involving Olfactory Receptor–Gene Clusters Mediate the Recurrent t(4;8)(p16;p23) Translocation
2002
Extensive Normal Copy Number Variation of a β-Defensin Antimicrobial-Gene Cluster
2003
A wooden bowl from Talisker Moor, Skye
1983
Virus-specific, early appearing neutralizing activity and interferon in tears of patients with acute hemorrhagic conjunctivitis
1985
Fatal disseminated cryptococcosis following intraocular involvement.
1988
Williams-Beuren syndrome: phenotypic variability and deletions of chromosomes 7, 11, and 22 in a series of 52 patients.
1996
Transient neonatal diabetes: widening the understanding of the etiopathogenesis of diabetes.
2000
Localisation of a gene for transient neonatal diabetes mellitus to an 18.72 cR3000 (approximately 5.4 Mb) interval on chromosome 6q.
1999
Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance.
1998