Citation Impact
Citing Papers
A Novel Germline Variant in CSF3R Reduces N-Glycosylation and Exerts Potent Oncogenic Effects in Leukemia
2018 StandoutNobel
ZBTB1 is a determinant of lymphoid development
2011 StandoutNobel
The Ensembl Variant Effect Predictor
2016 Standout
Ataxia telangiectasia: a review
2016
Synthetic lethality: a framework for the development of wiser cancer therapeutics
2009 StandoutNobel
Cancer immunoediting: from immunosurveillance to tumor escape
2002 Standout
The DNA-damage response in human biology and disease
2009 StandoutNature
In silico tools for splicing defect prediction: a survey from the viewpoint of end users
2013
An autonomous chromatin/DNA-PK mechanism for localized DNA damage signaling in mammalian cells
2013
Therapy-Related Clonal Hematopoiesis in Patients with Non-hematologic Cancers Is Common and Associated with Adverse Clinical Outcomes
2017
Tipin-Replication Protein A Interaction Mediates Chk1 Phosphorylation by ATR in Response to Genotoxic Stress
2010 StandoutNobel
More than just a focus: The chromatin response to DNA damage and its role in genome integrity maintenance
2011
Identification of genes in toxicity pathways of trinucleotide-repeat RNA in C. elegans
2014 StandoutNobel
Dosage compensation in mammals: fine-tuning the expression of the X chromosome
2006
A view on drug resistance in cancer
2019 StandoutNature
Introducing sense into nonsense in treatments of human genetic diseases
2008
No-Nonsense Functions for Long Noncoding RNAs
2011
Applications of genome editing technology in the targeted therapy of human diseases: mechanisms, advances and prospects
2020 Standout
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
Human Primary Immunodeficiency Diseases
2007
Ageing as a risk factor for neurodegenerative disease
2019 Standout
The changing landscape of atherosclerosis
2021 StandoutNature
A ceRNA Hypothesis: The Rosetta Stone of a Hidden RNA Language?
2011 Standout
The multilayered complexity of ceRNA crosstalk and competition
2014 StandoutNature
Functions of natural killer cells
2008 Standout
Evaluation of in silico splice tools for decision-making in molecular diagnosis
2008
A Long Noncoding RNA Controls Muscle Differentiation by Functioning as a Competing Endogenous RNA
2011 Standout
Inflammation and Colon Cancer
2010 Standout
A mammalian cell cycle checkpoint pathway utilizing p53 and GADD45 is defective in ataxia-telangiectasia
1992 Standout
Preventing or reducing late side effects of radiation therapy: radiobiology meets molecular pathology
2006 Standout
DNA Damage, Aging, and Cancer
2009 Standout
Clonal Hematopoiesis and Evolution to Hematopoietic Malignancies
2018
Selective stalling of human translation through small-molecule engagement of the ribosome nascent chain
2017 StandoutNobel
The DNA Damage Response: Making It Safe to Play with Knives
2010 Standout
Human DNA damage response and repair deficiency syndromes: Linking genomic instability and cell cycle checkpoint proficiency
2009
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
2009 Standout
The role of double-strand break repair — insights from human genetics
2005
Expansion of the eukaryotic proteome by alternative splicing
2010 StandoutNature
Broadening horizons: the role of ferroptosis in cancer
2021 Standout
Primary immunodeficiency syndromes associated with defective DNA double-strand break repair
2006
Cancer in Ataxia-telangiectasia patients
1990
Coupling of Human DNA Excision Repair and the DNA Damage Checkpoint in a Defined in Vitro System
2014 StandoutNobel
A Liquid-to-Solid Phase Transition of the ALS Protein FUS Accelerated by Disease Mutation
2015 Standout
The neurological phenotype of ataxia-telangiectasia: Solving a persistent puzzle
2008
Artificial Intelligence in Cardiology
2018 Standout
The Ataxia-telangiectasia mutated gene and breast cancer: gene expression profiles and sequence variants
2005
Therapeutic suppression of premature termination codons: Mechanisms and clinical considerations (Review)
2014
The genetics of macrophage activation syndrome
2020
The combined status of ATM and p53 link tumor development with therapeutic response
2009
Oxidative Stress: Harms and Benefits for Human Health
2017 Standout
Alternative splicing and RNA selection pressure — evolutionary consequences for eukaryotic genomes
2006
Epigenetic stability of repressed states involving the histone variant macroH2A revealed by nuclear transfer to Xenopus oocytes
2011 StandoutNobel
Maximum Entropy Modeling of Short Sequence Motifs with Applications to RNA Splicing Signals
2004
Derivation Conditions Impact X-Inactivation Status in Female Human Induced Pluripotent Stem Cells
2012 StandoutNobel
Genome Regulation by Long Noncoding RNAs
2012 Standout
Intestinal Mucosal Inflammation Leads to Systemic Genotoxicity in Mice
2009
Occurrence of malignancy in immunodeficiency diseases: A literature review
1971
The Three Es of Cancer Immunoediting
2004 Standout
Immunodeficiency disease and malignancy. Various immunologic deficiencies of man and the role of immune processes in the control of malignant disease.
1972
ICRP PUBLICATION 118: ICRP Statement on Tissue Reactions and Early and Late Effects of Radiation in Normal Tissues and Organs — Threshold Doses for Tissue Reactions in a Radiation Protection Context
2012 Standout
Histone variant macroH2A confers resistance to nuclear reprogramming
2011 StandoutNobel
ATM Mutations in Cancer: Therapeutic Implications
2016
Cytokine Storm
2020 Standout
Transcriptional control of human p53-regulated genes
2008 Standout
Pancytopenia and Leukemia in Hodgkin’s Disease: Report of Three Cases
1973 StandoutNobel
Hydroxylation of the eukaryotic ribosomal decoding center affects translational accuracy
2014 StandoutNobel
Primary immunodeficiency diseases and cancer: The immunodeficiency‐cancer registry
1973
ATM Mediates Cytotoxicity of a Mutant Telomerase RNA in Human Cancer Cells
2008 StandoutNobel
A systematic dissection of determinants and consequences of snoRNA-guided pseudouridylation of human mRNA
2022 StandoutNobel
Clonal hematopoiesis of indeterminate potential and its distinction from myelodysplastic syndromes
2015 Standout
Ataluren as an Agent for Therapeutic Nonsense Suppression
2012
The relative utilities of genome-wide, gene panel, and individual gene sequencing in clinical practice
2017
BK virus: II. Serologic studies in children with congenital disease and patients with malignant tumors and immunodeficiencies
1978 StandoutNobel
A severe combined immunodeficiency mutation in the mouse
1983 StandoutNature
In silico prediction of splice-altering single nucleotide variants in the human genome
2014
The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia
2016 Standout
Read-Through Strategies for Suppression of Nonsense Mutations in Duchenne/ Becker Muscular Dystrophy: Aminoglycosides and Ataluren (PTC124)
2010
Innate or Adaptive Immunity? The Example of Natural Killer Cells
2011 StandoutScience
Works of Shareef Nahas being referenced
Improved diagnostic testing for ataxia–telangiectasia by immunoblotting of nuclear lysates for ATM protein expression
2003
Inhibition of Atm and/or Atr disrupts gene silencing on the inactive X chromosome
2005
Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk
2008
Five haplotypes account for fifty‐five percent of ATM mutations in Brazilian patients with ataxia telangiectasia: Seven new mutations
2003
Constitutive phosphorylation of ATM in lymphoblastoid cell lines from patients with ICF syndrome without downstream kinase activity
2006
Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia
2011
Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: Maximum entropy estimates of splice junction strengths
2003
Rapid Flow Cytometry–Based Structural Maintenance of Chromosomes 1 (SMC1) Phosphorylation Assay for Identification of Ataxia-Telangiectasia Homozygotes and Heterozygotes
2009
Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons
2004
MDS-associated somatic mutations and clonal hematopoiesis are common in idiopathic cytopenias of undetermined significance
2015
Next-Generation Sequencing (NGS)-Based Profiling of Idiopathic Cytopenia of Undetermined Significance (ICUS) Identifies a Subset of Patients with Genomic Similarities to Lower-Risk Myelodysplastic Syndrome (MDS)
2014
[Ataxia-telangiectasia with acute lymphoblastic leukemia].
1969
Immunoassay to Measure Ataxia-Telangiectasia Mutated Protein in Cellular Lysates
2004
Nonaminoglycoside compounds induce readthrough of nonsense mutations
2009
Rapid Whole Genome Sequencing Has Clinical Utility in Children in the PICU*
2019