Citation Impact
Citing Papers
A target selection of somatic hypermutations is regulated similarly between T and B cells upon activation-induced cytidine deaminase expression
2005 StandoutNobel
Subdivision of Large Introns in Drosophila by Recursive Splicing at Nonexonic Elements
2005
Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis
2006 StandoutScience
Lysine Acetylation Targets Protein Complexes and Co-Regulates Major Cellular Functions
2009 StandoutScience
Cystic fibrosis carrier frequencies in populations of African origin.
1999
TLR9 Activation Coupled to IL-10 Deficiency Induces Adverse Pregnancy Outcomes
2009
Wnt signalling in mammary carcinogenesis
2002
Hallmarks of Cancer: The Next Generation
2011 Standout
Platelet factor 4–induced T H 1-T reg polarization suppresses antitumor immunity
2024 StandoutScienceNobel
The DNA-damage response in human biology and disease
2009 StandoutNature
Perinatal infection, inflammation, and retinopathy of prematurity
2011
In silico tools for splicing defect prediction: a survey from the viewpoint of end users
2013
The transfusion-associated transmission of parvovirus B19
1999
Internucleosomal DNA fragmentation during phorbol ester-induced monocytic differentiation and G0/G1 arrest.
1992
TP53 Mutations in Human Cancers: Origins, Consequences, and Clinical Use
2009 Standout
Splicing Defects in the Ataxia-Telangiectasia Gene, ATM: Underlying Mutations and Consequences
1999
Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer
2002
Founder mutations in BRCA1 and BRCA2 genes
2007
Genome-wide detection of tissue-specific alternative splicing in the human transcriptome
2002
Alternative isoform regulation in human tissue transcriptomes
2008 StandoutNature
Cystic fibrosis
2016 Standout
Correction of a genetic defect in multipotent germline stem cells using a human artificial chromosome
2008
Cell-cycle checkpoints and cancer
2004 StandoutNature
The DNA Damage Response Kinases DNA-dependent Protein Kinase (DNA-PK) and Ataxia Telangiectasia Mutated (ATM) Are Stimulated by Bulky Adduct-containing DNA
2011 StandoutNobel
Electron microscopy and 3D reconstructions reveal that human ATM kinase uses an arm-like domain to clamp around double-stranded DNA
2003
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
2015 Standout
DNA damage response as a candidate anti-cancer barrier in early human tumorigenesis
2005 StandoutNature
The FATC Domains of PIKK Proteins Are Functionally Equivalent and Participate in the Tip60-dependent Activation of DNA-PKcs and ATM
2006
ATM and related protein kinases: safeguarding genome integrity
2003 Standout
Retinopathy of prematurity
2013 Standout
Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected
1995
Breast cancer risk associated with BRCA1 and BRCA2 in diverse populations
2007
Dominant Negative ATM Mutations in Breast Cancer Families
2002
A DNA damage checkpoint response in telomere-initiated senescence
2003 StandoutNature
Immunogenicity of induced pluripotent stem cells
2011 StandoutNature
Telomerase and ATM/Tel1p Protect Telomeres from Nonhomologous End Joining
2003 StandoutNobel
Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping
2001
A CFTR Potentiator in Patients with Cystic Fibrosis and the G551D Mutation
2011 Standout
DNA Damage, Aging, and Cancer
2009 Standout
Perinatal Systemic Inflammatory Response Syndrome and Retinopathy of Prematurity
2010
Chemiluminescence as diagnostic tool. A review
2000
The DNA Damage Response: Making It Safe to Play with Knives
2010 Standout
Guidelines for Diagnosis of Cystic Fibrosis in Newborns through Older Adults: Cystic Fibrosis Foundation Consensus Report
2008
The Missing Diversity in Human Genetic Studies
2019 Standout
Inflammation and retinopathy of prematurity
2010
Male breast cancer
2006 Standout
Defensins in innate antiviral immunity
2006
Expansion of the eukaryotic proteome by alternative splicing
2010 StandoutNature
U1 snRNP regulates cancer cell migration and invasion in vitro
2020 Standout
The DExD/H-box helicase Dicer-2 mediates the induction of antiviral activity in drosophila
2008 StandoutNobel
Luminescent metal–organic frameworks
2009 Standout
Recombinational DNA repair and human disease
2002
Chk2 Oligomerization Studied by Phosphopeptide Ligation
2008 StandoutNobel
The Sleep Disorder Canine Narcolepsy Is Caused by a Mutation in the Hypocretin (Orexin) Receptor 2 Gene
1999 Standout
Identification of human triple-negative breast cancer subtypes and preclinical models for selection of targeted therapies
2011 Standout
Nijmegen breakage syndrome gene, NBS1, and molecular links to factors for genome stability
2002
Efficacy and safety of ivacaftor in patients with cystic fibrosis who have an Arg117His-CFTR mutation: a double-blind, randomised controlled trial
2015
Splicing regulation: From a parts list of regulatory elements to an integrated splicing code
2008
CHK2 kinase: cancer susceptibility and cancer therapy – two sides of the same coin?
2007
The clustering of disorders in infants born before the 28th week of gestation
2010
The Dynamic Properties and Possible Functions of Nuclear Lamins
1996
Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G→A, and 3667de14)
1994
The neurological phenotype of ataxia-telangiectasia: Solving a persistent puzzle
2008
Nascent-seq indicates widespread cotranscriptional pre-mRNA splicing in Drosophila
2011 StandoutNobel
Depletion of TDP 43 overrides the need for exonic and intronic splicing enhancers in the human apoA-II gene
2005
Engineering domain fusion chimeras from I-OnuI family LAGLIDADG homing endonucleases
2012 StandoutNobel
Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens
1995 Standout
Caretaker tumour suppressor genes that defend genome integrity
2002
Clinical relevance of tumour-associated macrophages
2022
Cell cycle kinases as therapeutic targets for cancer
2009
A Novel Mutation in the Cystic Fibrosis Gene in Patients with Pulmonary Disease but Normal Sweat Chloride Concentrations
1994
Integration-Free iPS Cells Engineered Using Human Artificial Chromosome Vectors
2011 StandoutNobel
Parvovirus B19
2004 Standout
A day in the life of the spliceosome
2014
Alternative splicing and RNA selection pressure — evolutionary consequences for eukaryotic genomes
2006
Proteins Connecting the Nuclear Pore Complex with the Nuclear Interior
1999 StandoutNobel
The cBio Cancer Genomics Portal: An Open Platform for Exploring Multidimensional Cancer Genomics Data
2012 Standout
Exon 9 of the CFTR gene: splice site haplotypes and cystic fibrosis mutations
1994
Breast cancer classification and prognosis based on gene expression profiles from a population-based study
2003 Standout
Ataxia telangiectasia mutated (Atm) is not required for telomerase-mediated elongation of short telomeres
2006 StandoutNobel
Inorganic polyphosphate is needed for swimming, swarming, and twitching motilities of Pseudomonas aeruginosa
2000 Standout
Galactofuranose-Coated Gold Nanoparticles Elicit a Pro-inflammatory Response in Human Monocyte-Derived Dendritic Cells and Are Recognized by DC-SIGN
2013
Bacterial Biofilms: A Common Cause of Persistent Infections
1999 StandoutScience
Placenta Microbiology and Histology and the Risk for Severe Retinopathy of Prematurity
2011
Programmed Cell Death Induced by Ceramide
1993 StandoutScience
Neonatal Bacteremia and Retinopathy of Prematurity
2011
Infection, Oxygen, and Immaturity: Interacting Risk Factors for Retinopathy of Prematurity
2010
Electrochemiluminescence (ECL)
2004 Standout
BRCA1/BRCA2 rearrangements and CHEK2 common mutations are infrequent in Italian male breast cancer cases
2007
A mutation in CFTR produces different phenotypes depending on chromosomal background
1993
Potential of preventing Pseudomonas aeruginosa lung infections in cystic fibrosis patients: Experimental studies in animals
1996
Role of Flagella in Pathogenesis ofPseudomonas aeruginosaPulmonary Infection
1998
Preterm labor: One syndrome, many causes
2014 StandoutScience
DNA Double-Strand Breaks
2002 StandoutNobel
Chemistry and Biology Of Multicomponent Reactions
2012 Standout
Identification of molecular apocrine breast tumours by microarray analysis
2005
ATM mutations are associated with inactivation of theARF-TP53 tumor suppressor pathway in diffuse large B-cell lymphoma
2002
ATP transduces signals from ASGM1, a glycolipid that functions as a bacterial receptor
2001 StandoutNobel
N‐Carboxyanhydride Polymerization of Glycopolypeptides That Activate Antigen‐Presenting Cells through Dectin‐1 and Dectin‐2
2018 StandoutNobel
Works of Thilo Dörk being referenced
Missense mutations but not allelic variants alter the function of ATM by dominant interference in patients with breast cancer
2002
A Single UDP-galactofuranose Transporter Is Required for Galactofuranosylation in Aspergillus fumigatus
2009
A nonsense mutation (E1978X) in the ATM gene is associated with breast cancer
2008
Radiosensitivity of Ataxia Telangiectasia and Nijmegen Breakage Syndrome Homozygotes and Heterozygotes as Determined by Three-Color FISH Chromosome Painting
2002
Polymorphisms of the humanβ-defensin-1gene
1998
A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype
1993
Intra- and extragenic marker haplotypes of CFTR mutations in cystic fibrosis families
1992
Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphicCFTR DNA markers
1996
MUltiplex Measurement of Cytokine/Receptor Gene Polymorphisms and interaction Between Interleukin-10 (-1082) Genotype and Chorioamnionitis in Extreme Preterm Delivery
2006
A frequent polymorphism of the gene mutated in ataxia telangiectasia
1997
Analysis of microsatellites by direct blotting electrophoresis and chemiluminescence detection
1995
Slow progression of ataxia‐telangiectasia with double missense and in frame splice mutations
2003
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens
1997
Interleukin-10 High Producer Allele and Ultrasound-Defined Periventricular White Matter Abnormalities in Preterm Infants: A Preliminary Study
2006
Do MDM2 SNP309 and TP53 R72P Interact in Breast Cancer Susceptibility? A Large Pooled Series from the Breast Cancer Association Consortium
2007
A new type of mutation causes a splicing defect in ATM
2002
Immaturity, perinatal inflammation, and retinopathy of prematurity: A multi-hit hypothesis
2009
Association of two mutations in the CHEK2 gene with breast cancer
2005
Genetic determinants of airways' colonisation with Pseudomonas aeruginosa in cystic fibrosis
1993
Frequency of BRCA1 Mutation 5382insC in German Breast Cancer Patients
1999
Human RAD50 Deficiency in a Nijmegen Breakage Syndrome-like Disorder
2009
A Hinfl polymorphism in the cystic fibrosis gene CFTR
1991
A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator
1992
Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: Maximum entropy estimates of splice junction strengths
2003
Severe splice site mutation preceding exon 9 of the CFTR gene
1993
Four Novel Cystic Fibrosis Mutations in Splice Junction Sequences Affecting the CFTR Nucleotide Binding Folds
1993
Novel and characteristic CFTR mutations in Saudi Arab children with severe cystic fibrosis.
1997
Spectrum of ATM gene mutations in a hospital-based series of unselected breast cancer patients.
2001
Independent origins of cystic fibrosis mutations R334W, R347P, R1162X, and 3849 + 10kbC-->T provide evidence of mutation recurrence in the CFTR gene.
1994
Differentiation and retrodifferentiation of U937 cells: reversible induction and suppression of intermediate filament protein synthesis.
1990
A novel donor splice site in intron 11 of the CFTR gene, created by mutation 1811+1.6kbA-->G, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype.
1995
Characterization of a Novel Third-Generation Anti-CD24-CAR against Ovarian Cancer
2019