Citation Impact
Citing Papers
The human disease network
2007 Standout
Rhizobium induces DNA damage in Caenorhabditis elegans intestinal cells
2019 StandoutNobel
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
Complement Factor H Polymorphism in Age-Related Macular Degeneration
2005 StandoutScience
PARP inhibitors: Synthetic lethality in the clinic
2017 StandoutScience
A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.
1995
Tobacco-induced sleep disturbances: A systematic review and meta-analysis
2021
Revised diagnostic criteria for the Marfan syndrome
1996 Standout
The DNA-damage response in human biology and disease
2009 StandoutNature
An Expanded View of Complex Traits: From Polygenic to Omnigenic
2017 Standout
Treatment of Medulloblastoma with Hedgehog Pathway Inhibitor GDC-0449
2009 Standout
Sphingolipid transport in eukaryotic cells
2000
Molecular functions and cellular roles of the ChlR1 (DDX11) helicase defective in the rare cohesinopathy Warsaw breakage syndrome
2014
The DNA double-strand break response in the nervous system
2004
Acid Ceramidase but Not Acid Sphingomyelinase Is Required for Tumor Necrosis Factor-α-induced PGE2 Production
2006
Ceramides and other bioactive sphingolipid backbones in health and disease: Lipidomic analysis, metabolism and roles in membrane structure, dynamics, signaling and autophagy
2006
Disease-corrected haematopoietic progenitors from Fanconi anaemia induced pluripotent stem cells
2009 Nature
Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing Protein
2001 StandoutNobel
Sphingosine 1-phosphate signalling in mammalian cells
2000
Acid sphingomyelinase deficient mice: a model of types A and B Niemann–Pick disease
1995
Comparison of heteroduplex analysis, direct sequencing, and enzyme mismatch cleavage for detecting mutations in a large gene,FBN1
1999
TNF activates NF-κB by phosphatidylcholine-specific phospholipase C-induced “Acidic” sphingomyelin breakdown
1992
ATM and related protein kinases: safeguarding genome integrity
2003 Standout
Acid Ceramidase Overexpression Prevents the Inhibitory Effects of Saturated Fatty Acids on Insulin Signaling
2005
Interactions of Human Mismatch Repair Proteins MutSα and MutLα with Proteins of the ATR-Chk1 Pathway
2009 StandoutNobel
Principles of bioactive lipid signalling: lessons from sphingolipids
2008 Standout
Homozygosity and Linkage‐Disequilibrium Mapping of the Urofacial (Ochoa) Syndrome Gene to a 1‐cM Interval on Chromosome 10q23‐q24
1997
Genetically Engineered Mouse Models of Brain Cancer and the Promise of Preclinical Testing
2008
The Clinical Utility of Biomarkers in the Management of Pancreatic Adenocarcinoma
2014
Life’s Essential 8: Updating and Enhancing the American Heart Association’s Construct of Cardiovascular Health: A Presidential Advisory From the American Heart Association
2022 Standout
Aortic Dissection—An Update
2005
Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels
2013 StandoutNobel
Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections
1998
DNA Damage, Aging, and Cancer
2009 Standout
The DNA Damage Response: Making It Safe to Play with Knives
2010 Standout
Mitotic homologous recombination maintains genomic stability and suppresses tumorigenesis
2010
Sphingomyelinase, an Enzyme Implicated in Atherogenesis, Is Present in Atherosclerotic Lesions and Binds to Specific Components of the Subendothelial Extracellular Matrix
1999
Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity
2005
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
2009 Standout
The emerging genetic and molecular basis of Fanconi anaemia
2001
Characterization of sphingomyelinase activity released by thrombin-stimulated platelets
2000
The Fanconi Anemia/BRCA pathway: new faces in the crowd
2005
CSF-1R inhibition alters macrophage polarization and blocks glioma progression
2013 Standout
Induced pluripotent stem cells and reprogramming: seeing the science through the hype
2009 StandoutNobel
XPD Helicase Structures and Activities: Insights into the Cancer and Aging Phenotypes from XPD Mutations
2008
Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles
2006
Fanconi Anemia (Cross)linked to DNA Repair
2005
Calmodulin Is Involved in the Ca2+-dependent Activation of Ceramide Kinase as a Calcium Sensor
2005
Characterization of the Interactome of the Human MutL Homologues MLH1, PMS1, and PMS2
2006
Reactive oxygen species have a causal role in multiple forms of insulin resistance
2006 StandoutNature
Hypertrophic Cardiomyopathy
2002 Standout
Molecular mechanisms of necroptosis: an ordered cellular explosion
2010 Standout
Identification of FAAP24, a Fanconi Anemia Core Complex Protein that Interacts with FANCM
2007
Glypican-1 identifies cancer exosomes and detects early pancreatic cancer
2015 StandoutNature
Induced pluripotent stem cell–derived hepatocytes have the functional and proliferative capabilities needed for liver regeneration in mice
2010 StandoutNobel
Sphingolipid signaling and redox regulation
2006
Repertoires of Autophagy in the Pathogenesis of Ocular Diseases
2015 Standout
Acid and neutral sphingomyelinases: roles and mechanisms of regulation
2004
Ferroptosis: mechanisms, biology and role in disease
2021 Standout
In Vivo Genetic Selection of Renal Proximal Tubules
2005
The human colon cancer methylome shows similar hypo- and hypermethylation at conserved tissue-specific CpG island shores
2009 Standout
Atherosclerosis
2000 StandoutNature
Sphingolipid breakdown products: anti-proliferative and tumor-suppressor lipids
1993
Hematopoietic Dysfunction in a Mouse Model for Fanconi Anemia Group D1
2006
Replacement of the Aortic Root in Patients with Marfan's Syndrome
1999
Cytochrome P450 enzymes in drug metabolism: Regulation of gene expression, enzyme activities, and impact of genetic variation
2013 Standout
Asymmetric Multicomponent Reactions (AMCRs): The New Frontier
2005 Standout
Sphingosine-1-phosphate: an enigmatic signalling lipid
2003 Standout
Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease
2003
Genotype and Phenotype Analysis of 171 Patients Referred for Molecular Study of the Fibrillin-1 Gene FBN1 Because of Suspected Marfan Syndrome
2001
Gene regulation by long non-coding RNAs and its biological functions
2020 Standout
Acid Sphingomyelinase–Deficient Human Lymphoblasts and Mice Are Defective in Radiation-Induced Apoptosis
1996
The cancer genome
2009 StandoutNature
Functions and metabolism of sphingolipids in Saccharomyces cerevisiae
2006
Lysosomal storage diseases
1995
Mouse model for the lysosomal disorder galactosialidosis and correction of the phenotype with overexpressing erythroid precursor cells.
1995 StandoutNobel
Biochemical Modulation of Cisplatin Mechanisms of Action: Enhancement of Antitumor Activity and Circumvention of Drug Resistance
2003 Standout
Architecture of an RNA Polymerase II Transcription Pre-Initiation Complex
2013 StandoutScienceNobel
Reciprocal Relationships Between Insulin Resistance and Endothelial Dysfunction
2006 Standout
Caffeic acid phenethyl ester is a potent and specific inhibitor of activation of nuclear transcription factor NF-kappa B.
1996 Standout
ACC/AHA 2005 Practice Guidelines for the Management of Patients With Peripheral Arterial Disease (Lower Extremity, Renal, Mesenteric, and Abdominal Aortic)
2006 Standout
Peroxidation of polyunsaturated fatty acids by lipoxygenases drives ferroptosis
2016 Standout
Cell cycle–dependent chromatin loading of the Fanconi anemia core complex by FANCM/FAAP24
2008
Diagnosis and management of aortic dissection Task Force on Aortic Dissection, European Society of Cardiology
2001
Familial Thoracic Aortic Aneurysms and Dissections
2001
DOG-1 Is the Caenorhabditis elegans BRIP1/FANCJ Homologue and Functions in Interstrand Cross-Link Repair
2007
Metabolic control of cell death
2014 Science
Signal transduction of stress via ceramide
1998
How the Fanconi Anemia Pathway Guards the Genome
2009
Sphingomyelinase ofBacillus Cereusas a Bacterial Hemolysin
1991
Phosphorylation of FANCD2 on Two Novel Sites Is Required for Mitomycin C Resistance
2006
Identification of a Chromosome 11q23.2-q24 Locus for Familial Aortic Aneurysm Disease, a Genetically Heterogeneous Disorder
2001
Recent Stem Cell Advances: Induced Pluripotent Stem Cells for Disease Modeling and Stem Cell–Based Regeneration
2010 StandoutNobel
Thoracic and Abdominal Aortic Aneurysms
2005 Standout
Functions of Ceramide in Coordinating Cellular Responses to Stress
1996 StandoutScience
The Caenorhabditis elegans mucolipin-like gene cup-5 is essential for viability and regulates lysosomes in multiple cell types
2002 StandoutNobel
The Origins of Medulloblastoma Subtypes
2008
Sphingolipide – ihre Stoffwechselwege und die Pathobiochemie neurodegenerativer Erkrankungen
1999
ATM and ATR Substrate Analysis Reveals Extensive Protein Networks Responsive to DNA Damage
2007 StandoutScience
Cellular and Molecular Dissection of Reperfusion Injury
2000 StandoutNobel
Transient activation of c-MYC expression is critical for efficient platelet generation from human induced pluripotent stem cells
2010 StandoutNobel
The Marfan Syndrome
2000
Structural and Functional Relationships of the XPF/MUS81 Family of Proteins
2008
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons.
1995
DNA Repair Pathways in Clinical Practice: Lessons From Pediatric Cancer Susceptibility Syndromes
2006
The Ubiquitin Code
2012 Standout
Impact of laboratory molecular diagnosis on contemporary diagnostic criteria for genetically transmitted cardiovascular diseases: hypertrophic cardiomyopathy, long-QT syndrome, and marfan syndrome : A statement for healthcare professionals from the councils on clinical cardiology, cardiovascular disease in the young, and basic science, american heart association
1998
Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome
2006 StandoutScience
Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease)
1995
TNF- and Cancer Therapy-Induced Apoptosis: Potentiation by Inhibition of NF-κB
1996 StandoutScience
Works of Orna Levran being referenced
Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1)
1992
Identification of a 3′ acceptor splice site mutation (g2610c) in the acid sphingomyelinase gene of patients with Niemann - Pick disease
1993
Genetic susceptibility to heroin addiction: a candidate gene association study
2008
Identification ofAlu-mediated deletions in the Fanconi anemia geneFAA
1998
CYP2B6SNPs are associated with methadone dose required for effective treatment of opioid addiction
2011
Type A Niemann-Pick disease: A frameshift mutation in the acid sphingomyelinase gene (fsP330) occurs in Ashkenazi Jewish patients
1993
Molecular Cloning and Characterization of a Full-length Complementary DNA Encoding Human Acid Ceramidase
1996
Shared Genetic Susceptibility to Breast Cancer, Brain Tumors, and Fanconi Anemia
2003
Niemann-Pick type B disease. Identification of a single codon deletion in the acid sphingomyelinase gene and genotype/phenotype correlations in type A and B patients.
1991
The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia
2005
A Molecular Approach to the Stratification of Cardiovascular Risk in Families with Marfan's Syndrome
1994
Sequence variation in the Fanconi anemia gene FAA
1997
Isolation of cDNA clones encoding human acid sphingomyelinase: occurrence of alternatively processed transcripts.
1989
A locus for Fanconi anemia on 16q determined by homozygosity mapping.
1996
Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients
1992
Genetic Heterogeneity among Fanconi Anemia Heterozygotes and Risk of Cancer
2007
Somatic mosaicism in Fanconi anemia: Evidence of genotypic reversion in lymphohematopoietic stem cells
2001
Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients.
1991