Citation Impact
Citing Papers
Genome-Scale CRISPR-Cas9 Knockout Screening in Human Cells
2013 StandoutScience
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
1995 StandoutNature
Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15.
1991
Interaction of Hydroxylated Collagen IV with the von Hippel-Lindau Tumor Suppressor
2007 StandoutNobel
Loss of Hypoxia-Inducible Factor Prolyl Hydroxylase Activity in Cardiomyocytes Phenocopies Ischemic Cardiomyopathy
2010 StandoutNobel
Infantile spasms in tuberous sclerosis complex
2001
Germline mutation profile of theVHL gene in von Hippel-Lindau disease and in sporadic hemangioblastoma
1998
The psychopathologies of children and adolescents with tuberous sclerosis complex (TSC)
2007
Guide to Bone Health and Disease in Cystic Fibrosis
2005
Inherited pancreatic endocrine tumor syndromes: Advances in molecular pathogenesis, diagnosis, management, and controversies
2008
Comprehensive Mutation Analysis of TSC1 and TSC2—and Phenotypic Correlations in 150 Families with Tuberous Sclerosis
1999
Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene
2002
Mosaicism in von Hippel–Lindau Disease: Lessons from Kindreds with Germline Mutations Identified in Offspring with Mosaic Parents
2000
pVHL Acts as an Adaptor to Promote the Inhibitory Phosphorylation of the NF-κB Agonist Card9 by CK2
2007 StandoutNobel
Everolimus for Advanced Pancreatic Neuroendocrine Tumors
2011 Standout
The Tuberous Sclerosis Complex
2006 Standout
Natural history of cardiac rhabdomyoma in infancy and childhood
1990
Molecular Genetic and Phenotypic Analysis Reveals Differences between TSC1 and TSC2 Associated Familial and Sporadic Tuberous Sclerosis
1997
The von Hippel–Lindau tumour suppressor protein: O2 sensing and cancer
2008 StandoutNobel
Cystic fibrosis
2016 Standout
The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho
2000
Gefitinib or Carboplatin–Paclitaxel in Pulmonary Adenocarcinoma
2009 Standout
The β-Thalassemias
1999 Standout
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
1994 StandoutNature
Regulation of mTOR function in response to hypoxia by REDD1 and the TSC1/TSC2 tumor suppressor complex
2004 StandoutNobel
The von Hippel–Lindau tumour suppressor: a multi-faceted inhibitor of tumourigenesis
2004
Molecular basis of the VHL hereditary cancer syndrome
2002 StandoutNobel
Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.
1993
Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis
2002
Phaeochromocytoma
2005 Standout
Hypoxia and Inflammation
2011 Standout
National Institutes of Health Consensus Conference: Tuberous Sclerosis Complex
2000
Apparent preferential loss of heterozygosity atTSC2 overTSC1 chromosomal region in tuberous sclerosis hamartomas
1996
Vitamin D Deficiency
2007 Standout
Somatic mutations in VHL germline deletion kindred correlate with mild phenotype
2004
gigas, a Drosophila Homolog of Tuberous Sclerosis Gene Product-2, Regulates the Cell Cycle
1999
von Hippel-Lindau Disease
1997 StandoutNobel
MORBIDITY ASSOCIATED WITH TUBEROUS SCLEROSIS: A POPULATION STUDY
1996
Sirolimus for Angiomyolipoma in Tuberous Sclerosis Complex or Lymphangioleiomyomatosis
2008 Standout
Molecular and clinical analyses of 84 patients with tuberous sclerosis complex
2006
Renal Cystic Disease in Tuberous Sclerosis: Role of the Polycystic Kidney Disease 1 Gene
1997
The von Hippel-Lindau Tumor Suppressor Protein Is Required for Proper Assembly of an Extracellular Fibronectin Matrix
1998 StandoutNobel
A CFTR Potentiator in Patients with Cystic Fibrosis and the G551D Mutation
2011 Standout
Deletion of the TSC2 and PKD1 genes associated with severe infantile polycystic kidney disease — a contiguous gene syndrome
1994
Synthetic peptides define critical contacts between elongin C, elongin B, and the von Hippel-Lindau protein
1999 StandoutNobel
TSC2 Mediates Cellular Energy Response to Control Cell Growth and Survival
2003 Standout
von Hippel-Lindau disease
2003 Standout
Advances in the treatment of neurofibromatosis-associated tumours
2013
Phosphorylation and Functional Inactivation of TSC2 by Erk
2005 Standout
HIF hydroxylation and the mammalian oxygen-sensing pathway
2003 StandoutNobel
Detecting the number of clusters of individuals using the software structure : a simulation study
2005 Standout
Angelman syndrome: a review of clinical and genetic aspects
1999
Molecular genetic advances in tuberous sclerosis
2000
The prevalence of cystic fibrosis in the European Union
2008
Tuberous sclerosis
2008 Standout
Detection of PCR products using self-probing amplicons and fluorescence
1999
5 α-Thalassaemia
1993
Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter
2000 StandoutNature
Evidence That Lymphangiomyomatosis Is Caused by TSC2 Mutations: Chromosome 16p13 Loss of Heterozygosity in Angiomyolipomas and Lymph Nodes from Women with Lymphangiomyomatosis
1998
Rapid detection of the Φ508 deletion in cystic fibrosis by Allele specific PCR and electrochemiluminescent detection
1995
The natural history of hemangioblastomas of the central nervous system in patients with von Hippel—Lindau disease
2003
TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/TSC2 frequency ratios
2002
Cystic fibrosis: molecular biology and therapeutic implications
1992 StandoutScience
Pheochromocytoma: The Expanding Genetic Differential Diagnosis
2003
The impact of molecular genetic analysis of the VHL gene in patients with haemangioblastomas of the central nervous system
1999
AFLP: a new technique for DNA fingerprinting
1995 Standout
Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker
1991 StandoutNobel
Neuropathology of tuberous sclerosis
2001
The GAP-Related Domain of Tuberin, the Product of the TSC2 Gene, is a Target for Missense Mutations in Tuberous Sclerosis
1997
Oxygen Sensing by Metazoans: The Central Role of the HIF Hydroxylase Pathway
2008 StandoutNobel
Analysis of bothTSC1 andTSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis
1999
A Calmodulin Binding Site in the Tuberous Sclerosis 2 Gene Product Is Essential for Regulation of Transcription Events and Is Altered by Mutations Linked to Tuberous Sclerosis and Lymphangioleiomyomatosis
2002
Angiogenesis as a therapeutic target
2005 StandoutNature
Hamartin and Tuberin Interaction With the G2/M Cyclin-Dependent Kinase CDK1 and Its Regulatory Cyclins A and B
2001
Confirmation of assigment of a locus for rubinstein‐taybi syndrome gene to 16p13.3
1992
RENAL LESION GROWTH IN CHILDREN WITH TUBEROUS SCLEROSIS COMPLEX
1998
Analysis of four diverse population groups indicates that a subset of cystic fibrosis mutations occur in common among Caucasians.
1992
Causes of Death in Patients With Tuberous Sclerosis
1991
Complementary DNA Sequencing: Expressed Sequence Tags and Human Genome Project
1991 StandoutScience
Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney.
1996 StandoutNobel
The eye in von Hippel–Lindau disease. Long‐term follow‐up of screening and treatment: recommendations
1998
Lanthanide Luminescence for Biomedical Analyses and Imaging
2010 Standout
Evolution of Cardiac Rhabdomyoma in Tuberous Sclerosis Complex
1996
Map of 16 polymorphic loci on the short arm of chromosome 16 close to the polycystic kidney disease gene (PKD1).
1990
von Hippel-Lindau Disease
2006 StandoutNobel
HIF hydroxylation and the mammalian oxygen-sensing pathway
2003 StandoutNobel
Biochemical purification and pharmacological inhibition of a mammalian prolyl hydroxylase acting on hypoxia-inducible factor
2002 StandoutNobel
Life with 6000 Genes
1996 StandoutScience
PROLINE HYDROXYLATION AND GENE EXPRESSION
2005 StandoutNobel
Tuberous Sclerosis Consensus Conference: Recommendations for Diagnostic Evaluation
1999
Kinase requirements in human cells: III. Altered kinase requirements inVHL−/− cancer cells detected in a pilot synthetic lethal screen
2008 StandoutNobel
Electrochemiluminescence (ECL)
2004 Standout
pVHL 19 is a biologically active product of the von Hippel–Lindau gene arising from internal translation initiation
1998 StandoutNobel
Dynamic Molecular Combing: Stretching the Whole Human Genome for High-Resolution Studies
1997 Science
Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.
2002
Clinical and Genotype Studies of Cardiac Tumors in 154 Patients With Tuberous Sclerosis Complex
2006
Cloning and characterization of a functional human homolog of Escherichia coli endonuclease III
1997 StandoutNobel
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation
1999
Haemangioblastoma of the central nervous system in von Hippel–Lindau disease
1998
LONG-TERM OUTCOME OF TRANSCATHETER EMBOLIZATION OF RENAL ANGIOMYOLIPOMAS DUE TO TUBEROUS SCLEROSIS COMPLEX
2005
The genetic basis of tuberous sclerosis
1998
Von Hippel-Lindau Syndrome
1999
Cardiac rhabdomyomas and their association with tuberous sclerosis.
1993
The Ubiquitin-Proteasome Proteolytic Pathway: Destruction for the Sake of Construction
2002 StandoutNobel
Role ofVHLGene Mutation in Human Cancer
2004 StandoutNobel
Recent Advances in Genetics, Diagnosis, Localization, and Treatment of Pheochromocytoma
2001
Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions.
1996
Works of M Super being referenced
Cystic fibrosis mutations in Romania
1997
Tuberous sclerosis and polycystic kidney disease.
1993
Mutations of the cystic fibrosis gene locus within the population of the Northwest of England
1992
Two loci for Tuberous Sclerosis: one on 9q34 and one on 16p13
1994
Bone status in cystic fibrosis
2001
Localisation of human alpha globin to 16p13.3----pter.
1988
A genetic register for von Hippel-Lindau disease.
1996
The association of Angelman's syndrome with deletions within 15q11-13.
1989
Development, multiplexing, and application of ARMS tests for common mutations in the CFTR gene.
1992
A clinical study of type 1 neurofibromatosis in north west England
1999
Cardiac rhabdomyomata in tuberous sclerosis: their course and diagnostic value.
1989