Citation Impact
Citing Papers
ZBTB1 is a determinant of lymphoid development
2011 StandoutNobel
The SGI® Altix 3000 Global Shared-Memory Architecture
2003
Progress towards completing the human linkage map
1991
Perspectives series: host/pathogen interactions. Mechanisms of nitric oxide-related antimicrobial activity.
1997 Standout
The Systemic Amyloidoses
1997 Standout
Nitric oxide synthases: regulation and function
2011 Standout
Disease-Specific Induced Pluripotent Stem Cells
2008 Standout
Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency
1996
Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2
1991
Nitric oxide induces necrotic but not apoptotic cell death in oligodendrocytes
1995 StandoutNobel
Homing endonucleases: from basics to therapeutic applications
2009
Instability and decay of the primary structure of DNA
1993 StandoutNatureNobel
Vitamin C as an Antioxidant: Evaluation of Its Role in Disease Prevention
2003 Standout
Molecular basis of human hypertension: Role of angiotensinogen
1992 Standout
Disorders of purine and pyrimidine metabolism
2005
Nitric oxide as a potential pathological mechanism in demyelination: Its differential effects on primary glial cellsin vitro
1994 StandoutNobel
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
1991 Standout
New insights into nNOS regulation of vascular homeostasis
2005 StandoutNobel
Organization of the Gene Encoding Human Lysosomal β-Galactosidase
1991
The Utility of DNA Typing in Forensic Work
1991 StandoutScience
Mutation profile of theGAA gene in 40 Italian patients with late onset glycogen storage disease type II
2006
von Hippel-Lindau Disease
1997 StandoutNobel
Homozygous Defect in HIV-1 Coreceptor Accounts for Resistance of Some Multiply-Exposed Individuals to HIV-1 Infection
1996 Standout
Gout
2009 Standout
Nitric Oxide and Peroxynitrite in Health and Disease
2007 Standout
Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.
1993
Deduced amino acid sequence of Escherichia coli adenosine deaminase reveals evolutionarily conserved amino acid residues: implications for catalytic function
1991
A genetic map of human chromosome 17p
1990
Two new mutations at the adenosine deaminase (ADA) locus (Q254X and del nt1050-54) unusual for not being missense mutations
1993
Disruption of the adenosine deaminase (ADA) gene using a dicistronic promoterless construct: Production of an ADA-deficient homozygote ES cell line
1995 StandoutNobel
Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population
1995
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
1997 Standout
The CEPH Consortium Linkage Map of Human Chromosome 13
1993
Adenosine deaminase deficiency: molecular basis and recent developments
1995
Listening to silence and understanding nonsense: exonic mutations that affect splicing
2002 Standout
Genotype is an important determinant of phenotype in adenosine deaminase deficiency
2003
Redesigning the Specificity of Protein–DNA Interactions with Rosetta
2014 StandoutNobel
Genetic Aspects of Amyloidosis
1991
Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus
1992 Nature
Memory of Extracellular Adenosine A2A Purinergic Receptor-mediated Signaling in Murine T Cells
1997 StandoutNobel
Hallmarks of Cellular Senescence
2018 Standout
Antimicrobial reactive oxygen and nitrogen species: concepts and controversies
2004 Standout
The ?-subunit of the skeletal muscle sodium channel is encoded proximal to Tk-1 on mouse Chromosome 11
1992
Reaction Mechanism of (6-4) Photolyase
1997 StandoutNobel
International Union of Pharmacology. XLVII. Nomenclature and Structure-Function Relationships of Voltage-Gated Sodium Channels
2005 Standout
Developmental and abnormal cell death in C. Elegans
1992 StandoutNobel
SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome
1995 Standout
Function and Mechanism of Zinc Metalloenzymes
2000 Standout
A genetic linkage map of the chromosome 4 short arm
1993
Lysosomal storage diseases
1995
The crystal structure of urease from Klebsiella aerogenes
1995 StandoutScience
Cell biology and molecular basis of denitrification
1997 Standout
Oxidants, antioxidants, and the degenerative diseases of aging.
1993 Standout
Biochemistry of Nitric Oxide and Its Redox-Activated Forms
1992 StandoutScience
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
1991 Standout
Atomic Structure of Adenosine Deaminase Complexed with a Transition-State Analog: Understanding Catalysis and Immunodeficiency Mutations
1991 Science
Structural and Functional Aspects of Metal Sites in Biology
1996 Standout
von Hippel-Lindau Disease
2006 StandoutNobel
Origin of the PSEN1 E280A mutation causing early‐onset Alzheimer's disease
2013 StandoutNobel
2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy
2011 Standout
DNA Deaminating Ability and Genotoxicity of Nitric Oxide and its Progenitors
1991 Science
Inhibitory effect of citrus nobiletin on phorbol ester-induced skin inflammation, oxidative stress, and tumor promotion in mice.
2000 Standout
The Caenorhabditis elegans mucolipin-like gene cup-5 is essential for viability and regulates lysosomes in multiple cell types
2002 StandoutNobel
A scalable, commodity data center network architecture
2008 Standout
NITRIC OXIDE AND MACROPHAGE FUNCTION
1997 Standout
Hyperkalemic Periodic Paralysis and the Adult Muscle Sodium Channel α-Subunit Gene
1990 Science
Adenosine Deaminase Deficiency in Adults
1997
Global Patterns of Linkage Disequilibrium at the CD4 Locus and Modern Human Origins
1996 StandoutScienceNobel
Genetic Dissection of Complex Traits
1994 StandoutScience
Cloning and mutagenesis of the rabbit ApoB mRNA editing protein. A zinc motif is essential for catalytic activity, and noncatalytic auxiliary factor(s) of the editing complex are widely distributed.
1994 StandoutNobel
Genetic requirements for mycobacterial survival during infection
2003 Standout
Genetic flanking markers refine diagnostic criteria and provide insights into the genetics of Von Hippel Lindau disease.
1991
Role of A2a Extracellular Adenosine Receptor-Mediated Signaling in Adenosine-Mediated Inhibition of T-Cell Activation and Expansion
1997 StandoutNobel
Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews.
1992
Nitric oxide as a secretory product of mammalian cells
1992 Standout
Works of S Tzall being referenced
Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency.
1989
A genetic linkage map of chromosome 17
1990
Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA – patients with severe combined immunodeficiency (ADA – SCID)
1992
Isolation and Partial Characterization of the Structural Gene for Human Acid Alpha Glucosidase
1991
Identification of a Missense Mutation in an Adult-Onset Patient with Glycogenosis Type II Expressing Only One Allele
1991
Sequence of the cDNA and 5′-Flanking Region for Human Acid α-Glucosidase, Detection of an Intron in the 5′ Untranslated Leader Sequence, Definition of 18-bp Polymorphisms, and Differences with Previous cDNA and Amino Acid Sequences
1990
Identification and characterization of nine RFLPs at the adenosine deaminase (ADA) locus.
1989
Hot spot mutations in adenosine deaminase deficiency.
1990
Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele.
1991