Citation Impact
Citing Papers
2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease
2010 Standout
Lymphatic function is required prenatally for lung inflation at birth
2014
A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.
1995
Nucleoside-modified VEGFC mRNA induces organ-specific lymphatic growth and reverses experimental lymphedema
2021 StandoutNobel
Saposin-like proteins (SAPLIP) carry out diverse functions on a common backbone structure.
1995
Signals from the lysosome: a control centre for cellular clearance and energy metabolism
2013 Standout
Idiopathic pulmonary fibrosis
2017 Standout
Random Field Model Reveals Structure of the Protein Recombinational Landscape
2012 StandoutNobel
FBN1 exon 2 splicing error in a patient with Marfan syndrome
2001
The association of nonsense codons with exon skipping
1998
Contribution of platelets to tumour metastasis
2011 Standout
The role of calcium in the organization of fibrillin microfibrils
1993
Molecular Structures and Interactions of Pulmonary Surfactant Components
1997
Contextual determinants of TGFβ action in development, immunity and cancer
2018
Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing Protein
2001 StandoutNobel
The Spliceosome: Design Principles of a Dynamic RNP Machine
2009 Standout
Transforming Growth Factor-β Signaling in Immunity and Cancer
2019 Standout
Molecular cloning of the microfibrillar protein MFAP3 and assignment of the gene to human chromosome 5q32–q33.2
1995
Mechanotransduction and extracellular matrix homeostasis
2014 Standout
Do bilineal pedigrees represent a problem for linkage analysis? basic principles and simulation results for single‐gene diseases with no heterogeneity
1992
Recombination as a mechanism for sporadic mutation in the surfactant protein‐C gene
2008
A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation.
1996
Fibrillin‐rich microfibrils: Structural determinants of morphogenetic and homeostatic events
2007
Five Years of GWAS Discovery
2012 Standout
TAZ Interacts with TTF-1 and Regulates Expression of Surfactant Protein-C
2004
Mitochondrial transfer from bone-marrow–derived stromal cells to pulmonary alveoli protects against acute lung injury
2012 Standout
Selection on Human Genes as Revealed by Comparisons to Chimpanzee cDNA
2003 StandoutNobel
Early Surgical Experience With Loeys-Dietz: A New Syndrome of Aggressive Thoracic Aortic Aneurysm Disease
2007
Marfan's syndrome
2005
Vascular Cells in Blood Vessel Wall Development and Disease
2016
Dysregulation of TGF-β activation contributes to pathogenesis in Marfan syndrome
2003 Standout
Assembly of extracellular matrix
1992
The Hippo Signaling Pathway in Development and Cancer
2010 Standout
DANCE, a Novel Secreted RGD Protein Expressed in Developing, Atherosclerotic, and Balloon-injured Arteries
1999 StandoutNobel
Preparation of Large Monodisperse Vesicles
2009 StandoutNobel
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
2009 Standout
Disruption of the splicing enhancer sequence within exon 27 of the dystrophin gene by a nonsense mutation induces partial skipping of the exon and is responsible for Becker muscular dystrophy.
1997
Cell Adhesion: The Molecular Basis of Tissue Architecture and Morphogenesis
1996 Standout
Expansion of the eukaryotic proteome by alternative splicing
2010 StandoutNature
Development of a Next-Generation Sequencing Method for BRCA Mutation Screening
2012
Sequence diversity in CYP3A promoters and characterization of the genetic basis of polymorphic CYP3A5 expression
2001 Standout
The Regulation of Splice-Site Selection, and Its Role in Human Disease
1997
The gene for microfibril-associated protein-1 (MFAP1) is located several megabases centromeric to FBN1 and is not mutated in Marfan syndrome
1997
Systemic sclerosis: a prototypic multisystem fibrotic disorder
2007 Standout
Listening to silence and understanding nonsense: exonic mutations that affect splicing
2002 Standout
Poly(ADP-ribose): novel functions for an old molecule
2006 Standout
Association between the Surfactant Protein A (SP-A) Gene Locus and Respiratory-Distress Syndrome in the Finnish Population
2000
Maintenance of an open reading frame as an additional level of scrutiny during splice site selection
1994
Macrophage Secretory Phospholipase A2 Group X Enhances Anti-inflammatory Responses, Promotes Lipid Accumulation, and Contributes to Aberrant Lung Pathology
2008
Nearby Stop Codons in Exons of the Neurofibromatosis Type 1 Gene Are Disparate Splice Effectors
1998
Oxidative Stress in Cancer
2020 Standout
Fibulin-5/DANCE is essential for elastogenesis in vivo
2002 StandoutNatureNobel
Information analysis of human splice site mutations
1998
Severe aortic and arterial aneurysms associated with a TGFBR2 mutation
2007
The molecular genetics of Marfan syndrome and related microfibrillopathies
2000
Xeroderma Pigmentosum Group C Splice Mutation Associated with Autism and Hypoglycinemia11An abstract of this manuscript was presented at the annual meeting of the Society for Investigative Dermatology in Washington, DC
1998 StandoutNobel
Coming of age: ten years of next-generation sequencing technologies
2016 Standout
Genetic disorders of the elastic fiber system
2000
Pulmonary surfactant‐associated polypeptide C in a mixed organic solvent transforms from a monomeric α‐helical state into insoluble β‐sheet aggregates
1998 StandoutNobel
Nonsense-mediated mRNA decayin health and disease
1999
Human Genome and Diseases:¶The molecular pathogenesis of the Marfan syndrome
2001
PARP-2 Interacts with TTF-1 and Regulates Expression of Surfactant Protein-B
2006
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome
1994
Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome
2004
Asthma
2000 Standout
Bronchopulmonary Dysplasia
2001 Standout
Lung Epithelium–specific Proteins
1999
Somatic mutation of hPMS2 as a possible cause of sporadic human colon cancer with microsatellite instability
2000 StandoutNobel
Alteration of reproductive function but not prenatal sexual development after insertional disruption of the mouse estrogen receptor gene.
1993 StandoutNobel
Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.
1996
2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the Diagnosis and Management of Patients With Thoracic Aortic Disease
2010 Standout
ACC/AHA 2005 Practice Guidelines for the Management of Patients With Peripheral Arterial Disease (Lower Extremity, Renal, Mesenteric, and Abdominal Aortic)
2006 Standout
Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices
1994
TGFβ2 knockout mice have multiple developmental defects that are non-overlapping with other TGFβ knockout phenotypes
1997 Standout
Estrogen Receptor Null Mice: What Have We Learned and Where Will They Lead Us?
1999 Standout
Immobilized platelets support human colon carcinoma cell tethering, rolling, and firm adhesion under dynamic flow conditions
2000
Guidelines for Prevention of Stroke in Patients With Ischemic Stroke or Transient Ischemic Attack
2006 Standout
Thoracic and Abdominal Aortic Aneurysms
2005 Standout
Specific inhibition of gene expression by small double-stranded RNAs in invertebrate and vertebrate systems
2001 StandoutNobel
F‐domain valency determines outcome of signaling through the angiopoietin pathway
2021 StandoutNobel
Wnt7b regulates mesenchymal proliferation and vascular development in the lung
2002
Genetic and Environmental Contributions to Platelet Aggregation
2001
Immobilized platelets support human colon carcinoma cell tethering, rolling, and firm adhesion under dynamic flow conditions
2000
Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF‐β expression and connective tissue features
2014
New frontiers in aerosol delivery during mechanical ventilation.
2004
Ribosome Components Are Associated with Sites of Transcription
2002 StandoutNobel
Genetic Dissection of Complex Traits
1994 StandoutScience
THE WNT SIGNALING PATHWAY IN DEVELOPMENT AND DISEASE
2004 Standout
Elastic fibres
2002 Standout
Structure and expression of fibulin-2, a novel extracellular matrix protein with multiple EGF-like repeats and consensus motifs for calcium binding.
1993
Alveolar Surfactant Homeostasis and the Pathogenesis of Pulmonary Disease
2010
The Skipping of Constitutive Exons in Vivo Induced by Nonsense Mutations
1993 Science
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.
1995
Phospholipase A2Enzymes: Physical Structure, Biological Function, Disease Implication, Chemical Inhibition, and Therapeutic Intervention
2011 Standout
Passage of Inhaled Particles Into the Blood Circulation in Humans
2002 Standout
Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome
2006 StandoutScience
Mechanisms of Alternative Pre-Messenger RNA Splicing
2003 Standout
Targeted disruption of the surfactant protein B gene disrupts surfactant homeostasis, causing respiratory failure in newborn mice.
1995
Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome.
1993
Mapping a Locus for Familial Thoracic Aortic Aneurysms and Dissections ( TAAD2 ) to 3p24–25
2003
Treatment of spinal muscular atrophy by sodium butyrate
2001
Genetic studies provide clues on the pathogenesis of idiopathic pulmonary fibrosis
2012
Evidence for a critical contribution of haploinsufficiency in the complex pathogenesis of Marfan syndrome
2004
Works of Hal Dietz being referenced
A Decade of Discovery in the Genetic Understanding of Thoracic Aortic Disease
2015
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes
2011
Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection.
1996
Neuroradiologic Manifestations of Loeys-Dietz Syndrome Type 1
2009
A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds.
1994
Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene.
1992
The Genetic Basis of Aortic Aneurysm
2014
Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype.
1995
Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene.
1991