• Publications
  • Influence
Comprehensive Molecular Characterization of Muscle-Invasive Bladder Cancer
We report a comprehensive analysis of 412 muscle-invasive bladder cancers characterized by multiple TCGA analytical platforms. Fifty-eight genes were significantly mutated, and the overall mutationalExpand
  • 730
  • 60
Tuberous sclerosis.
BACKGROUND AND DESIGN Tuberous sclerosis (TS) is a genetic disease with prominent cutaneous and brain involvement whose clinical and molecular genetics are reviewed. OBSERVATIONS Tuberous sclerosisExpand
  • 813
  • 50
LKB1 modulates lung cancer differentiation and metastasis
Germline mutation in serine/threonine kinase 11 (STK11, also called LKB1) results in Peutz–Jeghers syndrome, characterized by intestinal hamartomas and increased incidence of epithelial cancers.Expand
  • 809
  • 49
  • PDF
Reversal of learning deficits in a Tsc2+/− mouse model of tuberous sclerosis
Tuberous sclerosis is a single-gene disorder caused by heterozygous mutations in the TSC1 (9q34) or TSC2 (16p13.3) gene and is frequently associated with mental retardation, autism and epilepsy. EvenExpand
  • 726
  • 49
  • PDF
Molecular testing guideline for selection of lung cancer patients for EGFR and ALK tyrosine kinase inhibitors: guideline from the College of American Pathologists, International Association for the
OBJECTIVE To establish evidence-based recommendations for the molecular analysis of lung cancers that are required to guide EGFR- and ALK-directed therapies, addressing which patients and samplesExpand
  • 401
  • 49
  • PDF
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the widespread development of distinctive tumors termed hamartomas. TSC-determining loci have been mapped toExpand
  • 1,424
  • 46
Updated Molecular Testing Guideline for the Selection of Lung Cancer Patients for Treatment With Targeted Tyrosine Kinase Inhibitors: Guideline From the College of American Pathologists, the
Context: In 2013, an evidence‐based guideline was published by the College of American Pathologists, the International Association for the Study of Lung Cancer, and the Association for MolecularExpand
  • 407
  • 45
Molecular Testing Guideline for Selection of Lung Cancer Patients for EGFR and ALK Tyrosine Kinase Inhibitors: Guideline from the College of American Pathologists, International Association for the
Objective: To establish evidence-based recommendations for the molecular analysis of lung cancers that are that are required to guide EGFR- and ALK-directed therapies, addressing which patients andExpand
  • 844
  • 42
  • PDF
Human endothelial actin-binding protein (ABP-280, nonmuscle filamin): a molecular leaf spring
Actin-binding protein (ABP-280, nonmuscle filamin) is a ubiquitous dimeric actin cross-linking phosphoprotein of peripheral cytoplasm, where it promotes orthogonal branching of actin filaments andExpand
  • 489
  • 41
  • PDF
A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells.
Tuberous sclerosis (TSC) is a autosomal dominant genetic disorder caused by mutations in either TSC1 or TSC2, and characterized by benign hamartoma growth. We developed a murine model of Tsc1 diseaseExpand
  • 591
  • 37
  • PDF