Standout Papers
Citation Impact
Citing Papers
Genome-Scale CRISPR-Cas9 Knockout Screening in Human Cells
2013 StandoutScience
Guidelines for the Management of Spontaneous Intracerebral Hemorrhage
2015 Standout
Guidelines for the Prevention of Stroke in Patients With Stroke and Transient Ischemic Attack
2014 Standout
Biochemical and Functional Characterizations of Small GTPase Rheb and TSC2 GAP Activity
2004
The Kinase LKB1 Mediates Glucose Homeostasis in Liver and Therapeutic Effects of Metformin
2005 StandoutScience
TOR Signaling in Growth and Metabolism
2006 Standout
Topographic Comparative Study of Magnetic Resonance Imaging and Electroencephalography in 34 Children with Tuberous Sclerosis
1990
1 Developmental roles and clinical significance of Hedgehog signaling
2003
Topical rapamycin inhibits tuberous sclerosis tumor growth in a nude mouse model
2008
Hamartin and Tuberin Expression in Human Tissues
2001
Autism and tuberous sclerosis
1992
Differential Membrane Localization of ERas and Rheb, Two Ras-related Proteins Involved in the Phosphatidylinositol 3-Kinase/mTOR Pathway
2005 StandoutNobel
The psychopathologies of children and adolescents with tuberous sclerosis complex (TSC)
2007
Insulin Activation of Rheb, a Mediator of mTOR/S6K/4E-BP Signaling, Is Inhibited by TSC1 and 2
2003 Standout
Tuberous Sclerosis Complex 2 Gene Product Interacts with Human SMAD Proteins
2004
Comprehensive Mutation Analysis of TSC1 and TSC2—and Phenotypic Correlations in 150 Families with Tuberous Sclerosis
1999
Mechanisms of Thrombus Formation
2008 Standout
mTOR Signaling in Growth Control and Disease
2012 Standout
Rapamycin prevents epilepsy in a mouse model of tuberous sclerosis complex
2008
The Tuberous Sclerosis Complex
2006 Standout
Molecular Genetic and Phenotypic Analysis Reveals Differences between TSC1 and TSC2 Associated Familial and Sporadic Tuberous Sclerosis
1997
The p38 and MK2 Kinase Cascade Phosphorylates Tuberin, the Tuberous Sclerosis 2 Gene Product, and Enhances Its Interaction with 14-3-3
2003
AKT/PKB Signaling: Navigating Downstream
2007 Standout
Tuberous sclerosis complex: linking growth and energy signaling pathways with human disease
2005
The TSC1 tumour suppressor hamartin regulates cell adhesion through ERM proteins and the GTPase Rho
2000
Diffusion-Weighted Magnetic Resonance Imaging and Identification of the Epileptogenic Tuber in Patients With Tuberous Sclerosis
2003
Bootstrapping in human genetic linkage
1994
mTOR cascade activation distinguishes tubers from focal cortical dysplasia
2004
14-3-3β Binds to and Negatively Regulates the Tuberous Sclerosis Complex 2 (TSC2) Tumor Suppressor Gene Product, Tuberin
2003
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
Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis
2002
Antitumoral Activity of Rapamycin in Renal Angiomyolipoma Associated With Tuberous Sclerosis Complex
2006
National Institutes of Health Consensus Conference: Tuberous Sclerosis Complex
2000
Rheb GTPase is a direct target of TSC2 GAP activity and regulates mTOR signaling
2003 Standout
Acute Lymphoblastic Leukemia
1998
Renal Tumors in the Birt-Hogg-Dubé Syndrome
2002
Apparent preferential loss of heterozygosity atTSC2 overTSC1 chromosomal region in tuberous sclerosis hamartomas
1996
Renal manifestations of tuberous sclerosis complex: Incidence, prognosis, and predictive factors
2006
Tuberous sclerosis complex: Advances in diagnosis, genetics, and management
2007
The relation of infantile spasms, tubers, and intelligence in tuberous sclerosis complex
2004
Biological markers of intellectual disability in tuberous sclerosis
2007
Survey of Somatic Mutations in Tuberous Sclerosis Complex (TSC) Hamartomas Suggests Different Genetic Mechanisms for Pathogenesis of TSC Lesions
2001
SUBEPENDYMAL GIANT-CELL ASTROCYTOMASIN PEDIATRIC TUBEROUS SCLEROSIS DISEASE
2007
Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex
2006
Mosaicism in Tuberous Sclerosis as a Potential Cause of the Failure of Molecular Diagnosis
1999
Hippo Pathway in Organ Size Control, Tissue Homeostasis, and Cancer
2015 Standout
Selective alterations in glutamate and GABA receptor subunit mRNA expression in dysplastic neurons and giant cells of cortical tubers
2001
Biological Functions of Autophagy Genes: A Disease Perspective
2019 Standout
Sirolimus for Angiomyolipoma in Tuberous Sclerosis Complex or Lymphangioleiomyomatosis
2008 Standout
Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype – phenotype correlations and comparison of diagnostic DNA techniques in Tuberous Sclerosis Complex
2005
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 TSC1 Tumor Suppressor Hamartin Interacts with Neurofilament-L and Possibly Functions as a Novel Integrator of the Neuronal Cytoskeleton
2002
Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic significance
1998
Deletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease
2001 StandoutNobel
Ultrafast MRI in the prenatal diagnosis of Bourneville′s tuberous sclerosis
2005
Ophthalmic manifestations of tuberous sclerosis: a population based study
2001
Everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis complex: 2-year open-label extension of the randomised EXIST-1 study
2014
mTOR Signaling in Growth, Metabolism, and Disease
2017 Standout
Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients
1994
Tuberous sclerosis complex: clinical features, diagnosis, and prevalence within Northern Ireland
2006
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
Advances in the treatment of neurofibromatosis-associated tumours
2013
Endoplasmic Reticulum Stress and the Inflammatory Basis of Metabolic Disease
2010 Standout
Autophagy in the Pathogenesis of Disease
2008 Standout
Association between a High-Expressing Interferon-γ Allele and a Lower Frequency of Kidney Angiomyolipomas in TSC2 Patients
2002
Molecular genetic advances in tuberous sclerosis
2000
Tuberous Sclerosis Gene 2 Product Modulates Transcription Mediated by Steroid Hormone Receptor Family Members
1998
Epilepsy Surgery in Tuberous Sclerosis: A Systematic Review
2007
TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling
2002 Standout
The Rheb family of GTP-binding proteins
2004
Tuberous sclerosis
2008 Standout
Malignant Gliomas in Adults
2008 Standout
Accuracy of CT angiography for the diagnosis of vascular abnormalities causing intraparenchymal hemorrhage in young patients
2009
Anticoagulants in pediatric cerebral sinovenous thrombosis: A safety and outcome study
2009
Consistent Localization of Interictal Epileptiform Activity on EEGs of Patients with Tuberous Sclerosis Complex
2005
Imaging epileptogenic tubers in children with tuberous sclerosis complex usingα‐[11C]Methyl‐L ‐tryptophan positron emission tomography
1998
A Cell Cycle Regulator Potentially Involved in Genesis of Many Tumor Types
1994 StandoutScience
Neuropsychiatric Aspects of Tuberous Sclerosis
1991
Two loci for Tuberous Sclerosis: one on 9q34 and one on 16p13
1994
Tuberous Sclerosis: from Tubers to mTOR
2003
Widespread anatomical abnormalities of grey and white matter structure in tuberous sclerosis
2001
Consensus clinical guidelines for the assessment of cognitive and behavioural problems in Tuberous Sclerosis
2005
Embolization of Renal Angiomyolipomata in Patients With Tuberous Sclerosis Complex
2005
TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/TSC2 frequency ratios
2002
Sporadic Lymphangioleiomyomatosis and Tuberous Sclerosis Complex with Lymphangioleiomyomatosis: Comparison of CT Features
2007
An epidemiological study of renal pathology in tuberous sclerosis complex
2004
The Neurobiology of the Tuberous Sclerosis Complex
2006
High Frequency of Pulmonary Lymphangioleiomyomatosis in Women With Tuberous Sclerosis Complex
2000
Antithrombotic Therapy in Neonates and Children
2008
Early diagnosis of subependymal giant cell astrocytoma in children with tuberous sclerosis
1999
Loss of Tsc1/Tsc2 activates mTOR and disrupts PI3K-Akt signaling through downregulation of PDGFR
2003
Insulin signaling pathways in cortical dysplasia and TSC‐tubers: Tissue microarray analysis
2004
Neocortical hyperexcitability in a human case of tuberous sclerosis complex and mice lacking neuronal expression of TSC1
2007
PTEN function in mammalian cell size regulation
2002
AKT/PKB Signaling: Navigating the Network
2017 Standout
Repertoires of Autophagy in the Pathogenesis of Ocular Diseases
2015 Standout
Tuberous sclerosis complex and renal angiomyolipoma: case report and review of the literature
2006
Neuropathology of tuberous sclerosis
2001
Rapamycin causes regression of astrocytomas in tuberous sclerosis complex
2006
Temporal Control of Differentiation by the Insulin Receptor/Tor Pathway in Drosophila
2004
The PI3K Pathway in Human Disease
2017 Standout
Ras, PI(3)K and mTOR signalling controls tumour cell growth
2006 StandoutNature
The GAP-Related Domain of Tuberin, the Product of the TSC2 Gene, is a Target for Missense Mutations in Tuberous Sclerosis
1997
The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination
2000
Analysis of bothTSC1 andTSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis
1999
Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways
2005
Loss of tuberin, the tuberous‐sclerosis‐complex‐2 gene product is associated with angiogenesis
2001
Mosaic Disorders of the PI3K/PTEN/AKT/TSC/mTORC1 Signaling Pathway
2016
Moyamoya Disease and Moyamoya Syndrome
2009 Standout
NEUROPSYCHOLOGICAL ASPECTS OF TUBEROUS SCLEROSIS IN RELATION TO EPILEPSY AND MRI FINDINGS
1991
Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations
2012
Biology of hypopigmentation
1988
Everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial
2013
Autism and Tuberous Sclerosis
1998
Genetic Causes of Brain Tumors: Neurofibromatosis, Tuberous Sclerosis, von Hippel-Lindau, and Other Syndromes
2007
Epilepsy Surgery in Children with Tuberous Sclerosis Complex: Presurgical Evaluation and Outcome
2000
Recurrent Lymphangiomyomatosis after Transplantation
2003
Brain Abnormalities in Tuberous Sclerosis Complex
2004
Pulmonary Lymphangioleiomyomatosis in a Man
2000
The NHLBI Lymphangioleiomyomatosis Registry
2005
Mutational and Radiographic Analysis of Pulmonary Disease Consistent with Lymphangioleiomyomatosis and Micronodular Pneumocyte Hyperplasia in Women with Tuberous Sclerosis
2001
Subependymal giant cell tumors in tuberous sclerosis complex
2004
Guidelines for the Early Management of Patients With Acute Ischemic Stroke
2013 Standout
Molecular Classification of Cancer: Class Discovery and Class Prediction by Gene Expression Monitoring
1999 StandoutScience
Topical Review: Intractable Seizures in Tuberous Sclerosis Complex: From Molecular Pathogenesis to the Rationale for Treatment
2005
Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex
2003
Cortical Tuber Count: A Biomarker Indicating Neurologic Severity of Tuberous Sclerosis Complex
1997
Ligand-dependent interactions of coactivators steroid receptor coactivator-1 and peroxisome proliferator-activated receptor binding protein with nuclear hormone receptors can be imaged in live cells and are required for transcription
2000 StandoutNobel
TSC2: filling the GAP in the mTOR signaling pathway
2003
Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney.
1996 StandoutNobel
Molecular Pathogenesis of Tuber Formation in Tuberous Sclerosis Complex
2004
Evolution of Cardiac Rhabdomyoma in Tuberous Sclerosis Complex
1996
Nuclear Receptors and Lipid Physiology: Opening the X-Files
2001 StandoutScience
Gene Regulatory Networks and the Evolution of Animal Body Plans
2006 StandoutScience
Deletion 9p and sex reversal.
1993
Tuberous sclerosis
2006
Neuroimaging in tuberous sclerosis complex
2007
Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex
2005
All in the (cancer) family
1993
The Tuberous Sclerosis Complex and its Highly Variable Manifestations
2003
Developmental enamel defects in tuberous sclerosis: a clinical genetic marker?
1997
W/kit gene required for interstitial cells of Cajal and for intestinal pacemaker activity
1995 StandoutNature
Guidelines for the Management of Spontaneous Intracerebral Hemorrhage
2010 Standout
Biphasic Response of Pancreatic β-Cell Mass to Ablation of Tuberous Sclerosis Complex 2 in Mice
2008
Association of Lhermitte-Duclos and Cowden disease: report of a new case and review of the literature.
1994
Multiple Cardiac Rhabdomyomas as a Sole Symptom of Tuberous Sclerosis Complex
2005
Loss of Tsc1/Tsc2 activates mTOR and disrupts PI3K-Akt signaling through downregulation of PDGFR
2003
Diagnosis and Management of Cerebral Venous Thrombosis
2011 Standout
Mutations in the tuberous sclerosis complex geneTSC2are a cause of sporadic pulmonary lymphangioleiomyomatosis
2000
The TSC1–TSC2 complex: a molecular switchboard controlling cell growth
2008 Standout
Genetic Dissection of Complex Traits
1994 StandoutScience
Nuclear Receptor Coregulators: Cellular and Molecular Biology*
1999 Standout
Clinical and Genotype Studies of Cardiac Tumors in 154 Patients With Tuberous Sclerosis Complex
2006
The cutaneous features of tuberous sclerosis: a population study
1996
Cloning and characterization of a functional human homolog of Escherichia coli endonuclease III
1997 StandoutNobel
Behavioral and Cognitive Aspects of Tuberous Sclerosis Complex
2004
Mutational spectrum of the TSC1 gene in a cohort of 225 tuberous sclerosis complex patients: no evidence for genotype-phenotype correlation
1999
Regulation of YAP by mTOR and autophagy reveals a therapeutic target of tuberous sclerosis complex
2014
The genetic basis of tuberous sclerosis
1998
Usefulness of Diagnostic Criteria of Tuberous Sclerosis Complex in Pediatric Patients
2000
Revascularisation surgery for paediatric moyamoya: a review of the literature
2005
Hamartin, the product of the tuberous sclerosis 1 (TSC1) gene, interacts with tuberin and appears to be localized to cytoplasmic vesicles.
1998
Anticoagulation Therapy and Imaging in Neonates With a Unilateral Thalamic Hemorrhage Due to Cerebral Sinovenous Thrombosis
2009
Pharmacogenomics: Translating Functional Genomics into Rational Therapeutics
1999 StandoutScience
Guidelines for the Prevention of Stroke in Patients With Stroke or Transient Ischemic Attack
2010 Standout
Insulin Signaling: Lessons from the Drosophila Tuberous Sclerosis Complex, a Tumor Suppressor
2001
New developments in the genetics and pathogenesis of tumours in tuberous sclerosis complex
2016
Characterisation of a novel TSC2 missense mutation in the GAP related domain associated with minimal clinical manifestations of tuberous sclerosis
2004
Role ofVHLGene Mutation in Human Cancer
2004 StandoutNobel
Early onset of neoplasia in the prostate and skin of mice with tissue-specific deletion of Pten
2004 StandoutNobel
Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions.
1996
Works of E. Steve Roach being referenced
Management of Stroke in Infants and Children
2008
Tuberous sclerosis complex
2000 Standout
Immediate Surgery for Moyamoya Syndrome?
2001
Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States
2007
Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease
1992
Neurocutaneous Syndromes
1992
Nonketotic hyperglycinemia in a patient with the 9p– syndrome
1989
Subependymal Giant Cell Astrocytoma: Diagnosis, Screening, and Treatment. Recommendations From the International Tuberous Sclerosis Complex Consensus Conference 2012
2013
Seizure Remission and Antiepileptic Drug Discontinuation in Children With Tuberous Sclerosis Complex
2003
Germ-Line Mosaicism in Tuberous Sclerosis: How Common?
1999
Etiology of stroke in children
2000
Germ-Line Mutational Analysis of the TSC2 Gene in 90 Tuberous-Sclerosis Patients
1998
Early Diagnosis of Subependymal Giant Cell Astrocytoma in Patients With Tuberous Sclerosis
1998
Tuberous Sclerosis
1995
RENAL LESION GROWTH IN CHILDREN WITH TUBEROUS SCLEROSIS COMPLEX
1998
Detection of tuberous sclerosis in parents by magnetic resonance imaging
1991
Report of the Diagnostic Criteria Committee of the National Tuberous Sclerosis Association
1992
Hemimegalencephaly and tuberous sclerosis complex
2005
Magnetic Resonance Imaging in Tuberous Sclerosis
1987
Tuberous Sclerosis Complex Consensus Conference: Revised Clinical Diagnostic Criteria
1998 Standout
Nontraumatic Brain Hemorrhage in Children: Etiology and Presentation
2000
Tuberous Sclerosis Consensus Conference: Recommendations for Diagnostic Evaluation
1999
Evidence for genetic heterogeneity in tuberous sclerosis: one locus on chromosome 9 and at least one locus elsewhere.
1992
Panel Discussion I: Defining Clinical and Radiologic Criteria Required for the Definitive Diagnosis of Tuberous Sclerosis Complex
1991
Unexpected Acute Neurologic Toxicity in the Treatment of Children With Acute Lymphoblastic Leukemia
1992
Diagnostic criteria for schwannomatosis
2005
Cerebral Venous Sinus Thrombosis in Children: A Multicenter Cohort From the United States
2007
Holoprosencephaly: birth data, benetic and demographic analyses of 30 families.
1975
LONG-TERM OUTCOME OF TRANSCATHETER EMBOLIZATION OF RENAL ANGIOMYOLIPOMAS DUE TO TUBEROUS SCLEROSIS COMPLEX
2005
Diagnosis of Tuberous Sclerosis Complex
2004