Citation Impact
Citing Papers
FoxOs Enforce a Progression Checkpoint to Constrain mTORC1-Activated Renal Tumorigenesis
2010 StandoutNobel
EGFR Antagonists in Cancer Treatment
2008 Standout
Molecular Genetic Approaches to the Analysis and Diagnosis of Human Inherited Disease: An Overview
1992
Tuberous sclerosis in a 20-week gestation fetus: immunohistochemical study
1997
Comprehensive Mutation Analysis of TSC1 and TSC2—and Phenotypic Correlations in 150 Families with Tuberous Sclerosis
1999
Tuberous Sclerosis Complex in Olmsted County, Minnesota, 1950-1989
1991
Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy
1994
Molecular Basis of Oculocutaneous Albinism.
1994
The Tuberous Sclerosis Complex
2006 Standout
Molecular Genetic and Phenotypic Analysis Reveals Differences between TSC1 and TSC2 Associated Familial and Sporadic Tuberous Sclerosis
1997
(Patho)physiological Significance of the Serum- and Glucocorticoid-Inducible Kinase Isoforms
2006
Mitochondria: Dynamic Organelles in Disease, Aging, and Development
2006 Standout
Newborn Hearing Screening — A Silent Revolution
2006 Standout
Regulation of mTOR function in response to hypoxia by REDD1 and the TSC1/TSC2 tumor suppressor complex
2004 StandoutNobel
Molecular basis of the VHL hereditary cancer syndrome
2002 StandoutNobel
Lung Cancer
2008 Standout
National Institutes of Health Consensus Conference: Tuberous Sclerosis Complex
2000
Normalizing tumor vasculature with anti-angiogenic therapy: A new paradigm for combination therapy
2001 Standout
Coordinated Transcription of Key Pathways in the Mouse by the Circadian Clock
2002 Standout
Mosaicism in Tuberous Sclerosis as a Potential Cause of the Failure of Molecular Diagnosis
1999
MORBIDITY ASSOCIATED WITH TUBEROUS SCLEROSIS: A POPULATION STUDY
1996
The NOX Family of ROS-Generating NADPH Oxidases: Physiology and Pathophysiology
2007 Standout
Insulin-like Growth Factor 1 Induces Hypoxia-inducible Factor 1-mediated Vascular Endothelial Growth Factor Expression, Which is Dependent on MAP Kinase and Phosphatidylinositol 3-Kinase Signaling in Colon Cancer Cells
2002 StandoutNobel
Sirolimus for Angiomyolipoma in Tuberous Sclerosis Complex or Lymphangioleiomyomatosis
2008 Standout
Upstream and downstream of mTOR
2004 Standout
TSC2 Mediates Cellular Energy Response to Control Cell Growth and Survival
2003 Standout
Mutational Analysis in a Cohort of 224 Tuberous Sclerosis Patients Indicates Increased Severity of TSC2, Compared with TSC1, Disease in Multiple Organs
2001
Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice
1997
von Hippel-Lindau disease
2003 Standout
TSC2 regulates VEGF through mTOR-dependent and -independent pathways
2003 StandoutNobel
Trastuzumab — Mechanism of Action and Use in Clinical Practice
2007 Standout
Phosphorylation and Functional Inactivation of TSC2 by Erk
2005 Standout
Molecular genetic advances in tuberous sclerosis
2000
Rapid and durable recovery of visual function in a patient with von hippel-lindau syndrome after systemic therapy with vascular endothelial growth factor receptor inhibitor su5416
2002
Primary episodic ataxias: diagnosis, pathogenesis and treatment
2007
The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy
2000
TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling
2002 Standout
Learning disability and epilepsy in an epidemiological sample of individuals with tuberous sclerosis complex
2003
Tuberous sclerosis
2008 Standout
Eye movements in reading and information processing: 20 years of research.
1998 Standout
DNA Repair: DNA surveillance defect in cancer cells
1994 StandoutNobel
A missense mutation in the Kv1.1 voltage-gated potassium channel–encoding gene KCNA1 is linked to human autosomal dominant hypomagnesemia
2009
Two loci for Tuberous Sclerosis: one on 9q34 and one on 16p13
1994
Mitochondrial DNA segregation in the developing embryo
2000
Clinical Effect of Point Mutations in Myelodysplastic Syndromes
2011 Standout
Haemophilia A diagnosis by analysis of a hypervariable dinucleotide repeat within the factor VIII gene
1991
The Epidemiology of Myelodysplastic Syndromes
2010
Genetic linkage studies
2005
The von Hippel–Lindau protein, HIF hydroxylation, and oxygen sensing
2005 StandoutNobel
Tsc2 Null Murine Neuroepithelial Cells Are a Model for Human Tuber Giant Cells, and Show Activation of an mTOR Pathway
2002
Rapid genetic analysis of families with polycystic kidney disease 1 by means of a microsatellite marker
1991 StandoutNobel
Hypernatremia
2000 Standout
Characterization of the Interaction of a Recombinant Soluble Neuroligin-1 with Neurexin-1β
2003 StandoutNobel
CHRNB2 Is the Second Acetylcholine Receptor Subunit Associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy*
2001
Epidemiology of Tuberous Sclerosis
1991
Neonatal Hyperbilirubinemia
2001 Standout
The GAP-Related Domain of Tuberin, the Product of the TSC2 Gene, is a Target for Missense Mutations in Tuberous Sclerosis
1997
A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells
2002
Mapping of a second locus for familial hemiplegic migraine to 1q21–q23 and evidence of further heterogeneity
1997
Rictor/TORC2 regulates fat metabolism, feeding, growth, and life span in Caenorhabditis elegans
2009 StandoutNobel
Dysregulation of HIF and VEGF is a unifying feature of the familial hamartoma syndromes
2004 StandoutNobel
Mutational and Radiographic Analysis of Pulmonary Disease Consistent with Lymphangioleiomyomatosis and Micronodular Pneumocyte Hyperplasia in Women with Tuberous Sclerosis
2001
Germ-line origins of mutation in families with hemophilia B: the sex ratio varies with the type of mutation.
1993
Adolescence-limited and life-course-persistent antisocial behavior: A developmental taxonomy.
1993 Standout
Controlled fall in natremia and risk of seizures in hypertonic dehydration
1979
Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis
1987
Magnesium in Man: Implications for Health and Disease
2014 Standout
Multicopper Oxidases and Oxygenases
1996 Standout
Acquired resistance to the antitumor effect of epidermal growth factor receptor-blocking antibodies in vivo: a role for altered tumor angiogenesis.
2001
Von Hippel-Lindau disease: a genetic study.
1991
Child/adolescent behavioral and emotional problems: Implications of cross-informant correlations for situational specificity.
1987 Standout
The Yeast TFB1 and SSL1 Genes, Which Encode Subunits of Transcription Factor IIH, Are Required for Nucleotide Excision Repair and RNA Polymerase II Transcription
1995 StandoutNobel
Effectiveness and Safety of Prenatal Phenobarbital for the Prevention of Neonatal Jaundice
1980
Health Effects of Chronic Pesticide Exposure: Cancer and Neurotoxicity
2004 Standout
HOW EARLY CAN WE TELL?: PREDICTORS OF CHILDHOOD CONDUCT DISORDER AND ADOLESCENT DELINQUENCY *
1990
The effects of handling in infancy on behavioral states in the rabbit
1977
Predictive eye movements do not discriminate between dyslexic and control children
1983
Mitochondrial Diseases in Man and Mouse
1999 StandoutScience
Hepatocellular Carcinoma: Epidemiology and Molecular Carcinogenesis
2007 Standout
Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals
1987 Standout
About Sleep's Role in Memory
2013 Standout
HYPERKINETIC AND CONDUCT PROBLEM CHILDREN IN A PRIMARY SCHOOL POPULATION: SOME EPIDEMIOLOGICAL CONSIDERATIONS
1980
Freeze-frame inhibitor captures acetylcholinesterase in a unique conformation
2004 StandoutNobel
Genetic Dissection of Complex Traits
1994 StandoutScience
The cutaneous features of tuberous sclerosis: a population study
1996
Regulation and Physiological Roles of Serum- and Glucocorticoid-Induced Protein Kinase Isoforms
2001
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation
1999
Alterations in the hypothalamic paraventricular nucleus and its oxytocin neurons (putative satiety cells) in Prader-Willi syndrome: a study of five cases.
1995
The genetic basis of tuberous sclerosis
1998
The Oxytocin Receptor System: Structure, Function, and Regulation
2001 Standout
Acetylcholinesterase — new roles for an old actor
2001
2013 IDSA Clinical Practice Guideline for Vaccination of the Immunocompromised Host
2013 Standout
Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss
2003
The Emergence of Modern Neuroscience: Some Implications for Neurology and Psychiatry
2000 StandoutNobel
Role ofVHLGene Mutation in Human Cancer
2004 StandoutNobel
Long-range restriction map around the Duchenne muscular dystrophy gene
1986 Nature
Dysregulation of the TSC-mTOR pathway in human disease
2004 Standout
Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions.
1996
Works of J Stephenson being referenced
Trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt: a report of two unrelated cases.
1984
The Prader-Willi syndrome.
1994
Familial MDS with 5q — abnormality
1993
Autosomal Dominant Nocturnal Frontal-Lobe Epilepsy: Genetic Heterogeneity and Evidence for a Second Locus at 15q24
1998
Deletion of the acetylcholinesterase locus at 7q22 associated with myelodysplastic syndromes (MDS) and acute myeloid leukaemia (AML)
1996
The molecular genetic analysis of haemophilia A; characterization of six partial deletions in the factor VIII gene
1990
Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues.
1994
Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability
2000
Uraemia as a determinant of convulsions in acute infantile hypernatraemia
1971
Vaccine-Induced Polioencephalomyelitis in Scotland
1988
Researchers Describe Findings for Targeted Cancer Therapies
2000
Duchenne muscular dystrophy due to familial Xp21 deletion detectable by DNA analysis and flow cytometry
1986
MENTAL RETARDATION: PRENATAL DIAGNOSIS AND INFANT ASSESSMENT
1974
Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability
2000
THE NEUROLOGICAL EXAMINATION OF THE CHILD WITH MINOR NERVOUS DYSFUNCTION
1971
Tay-Sachs Disease: Screening and Prevention
1979
Familial hemiplegic migraine in the west of Scotland: a clinical and genetic study of seven families.
1996
Genetic aspects of tuberous sclerosis in the west of Scotland.
1989