Citation Impact
Citing Papers
Molecular Genetic Approaches to the Analysis and Diagnosis of Human Inherited Disease: An Overview
1992
Normal dystrophin transcripts detected in Duchenne muscular dystrophy patients after myoblast transplantation
1992 Nature
Sequence and exon-intron organization of the DNA encoding the alpha I domain of human spectrin. Application to the study of mutations causing hereditary elliptocytosis.
1989 StandoutNobel
On the Role of RNA Amplification in dsRNA-Triggered Gene Silencing
2001 StandoutNobel
Disease-Specific Induced Pluripotent Stem Cells
2008 Standout
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
1988
Correction of the cystic fibrosis defect in vitro by retrovirus-mediated gene transfer
1990 Standout
Generation and characterization of a ΔF508 cystic fibrosis mouse model
1995 StandoutNobel
Glutamate uptake
2001 Standout
Dystrophin abnormalities in Duchenne/Becker muscular dystrophy
1989
Identification and characterization of a spinal muscular atrophy-determining gene
1995 Standout
Challenges in Duchenne muscular dystrophy1This review is based on the first Alan Emery lecture given at Green College, Oxford, on 11th March 1997.1
1997
Tissue Destruction by Neutrophils
1989 Standout
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification
1988
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
1991 Standout
The muscular dystrophies
2002 Standout
Pax7 Is Required for the Specification of Myogenic Satellite Cells
2000 Standout
Molecular analysis of insertion/deletion mutations in protein 4.1 in elliptocytosis. II. Determination of molecular genetic origins of rearrangements.
1990 StandoutNobel
Fetal cells in maternal blood: Determination of purity and yield by quantitative polymerase chain reaction
1994
Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction
1990
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
1991 StandoutNature
Production of a severe cystic fibrosis mutation in mice by gene targeting
1993 StandoutNobel
Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11
1996
Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology
2006 StandoutNobel
The NOX Family of ROS-Generating NADPH Oxidases: Physiology and Pathophysiology
2007 Standout
β-Lactam antibiotics offer neuroprotection by increasing glutamate transporter expression
2005 StandoutNature
Dystrophin: The protein product of the duchenne muscular dystrophy locus
1987 Standout
A CFTR Potentiator in Patients with Cystic Fibrosis and the G551D Mutation
2011 Standout
The structural and functional diversity of dystrophin
1993
NEUROTOXIC MECHANISMS OF DEGENERATION IN MOTOR NEURON DISEASES*
1999
Amyotrophic Lateral Sclerosis-linked Glutamate Transporter Mutant Has Impaired Glutamate Clearance Capacity
2001
Transposon-induced deletions in unc-22 of C. elegans associated with almost normal gene activity
1988 Nature
Cystic fibrosis: molecular biology and therapeutic implications
1992 StandoutScience
Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis
1990 Standout
Human dystrophin expression in mdx mice after intramuscular injection of DNA constructs
1991 Nature
Structural Selectivity and Molecular Nature ofl-Glutamate Transport in Cultured Human Fibroblasts
1998
Very mild muscular dystrophy associated with the deletion of 46% of dystrophin
1990 Nature
Atherosclerosis
2000 StandoutNature
Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q1 1.2–13.3
1990 Nature
Mutations in the Cystic Fibrosis Gene in Patients with Congenital Absence of the Vas Deferens
1995 Standout
Atherosclerosis
2001 Standout
Regional localization of the murine Duchenne muscular dystrophy gene on the mouse X chromosome
1987
Experience and Strategy for the Molecular Testing of Duchenne Muscular Dystrophy
2005
The molecular genetics of Duchenne muscular dystrophy: the beginning of the end?
1988
An Animal Model for Cystic Fibrosis Made by Gene Targeting
1992 StandoutScienceNobel
Rapid detection of CA polymorphisms in cloned DNA: application to the 5' region of the dystrophin gene.
1991
Molecular analysis of the armadillo locus: uniformly distributed transcripts and a protein with novel internal repeats are associated with a Drosophila segment polarity gene.
1989 StandoutNobel
Identification of the Cystic Fibrosis Gene: Chromosome Walking and Jumping
1989 StandoutScience
Tissue Engineering
1993 StandoutScience
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein
1988
Recombinations between IRP and cystic fibrosis.
1988
Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in Asian families with phenylketonuria (PKU).
1989
Detection of specific polymerase chain reaction product by utilizing the 5'----3' exonuclease activity of Thermus aquaticus DNA polymerase.
1991 Standout
Targeted mutations in the Caenorhabditis elegans POU homeo box gene ceh-18 cause defects in oocyte cell cycle arrest, gonad migration, and epidermal differentiation.
1994 StandoutNobel
The Molecular Basis of Muscular Dystrophy in the mdx Mouse: a Point Mutation
1989 Science
Functional Coherence of the Human Y Chromosome
1997 StandoutScience
A stoichiometric complex of neurexins and dystroglycan in brain
2001 StandoutNobel
Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.
1989 Standout
Isolation of additional polymorphic clones from the cystic fibrosis region, using chromosome jumping from D7S8.
1989
P-Selectin or Intercellular Adhesion Molecule (Icam)-1 Deficiency Substantially Protects against Atherosclerosis in Apolipoprotein E–Deficient Mice
2000
Neural Science
2000 StandoutNobel
Genealogical analysis of cystic fibrosis families and chromosome 7q RFLP haplotypes in the Hutterite Brethren.
1989
Identification of the Cystic Fibrosis Gene: Genetic Analysis
1989 StandoutScience
Cell-type-specific and hypoxia-inducible expression of the human erythropoietin gene in transgenic mice.
1991 StandoutNobel
Genetic Dissection of Complex Traits
1994 StandoutScience
Identification of markers linked to disease-resistance genes by bulked segregant analysis: a rapid method to detect markers in specific genomic regions by using segregating populations.
1991 Standout
Type 1 Neurofibromatosis Gene: Identification of a Large Transcript Disrupted in Three NF1 Patients
1990 StandoutScience
Identification of the Cystic Fibrosis Gene: Cloning and Characterization of Complementary DNA
1989 StandoutScience
DNA marker haplotype association with pancreatic sufficiency in cystic fibrosis.
1989
Reverse genetics and human disease
1986
Heterologous Protection Against Influenza by Injection of DNA Encoding a Viral Protein
1993 StandoutScience
Male fetal progenitor cells persist in maternal blood for as long as 27 years postpartum.
1996 Standout
The Caenorhabditis elegans gene lin-10 is broadly expressed while required specifically for the determination of vulval cell fates.
1990 StandoutNobel
Biogenesis of γ-secretase early in the secretory pathway
2007 StandoutNobel
Mendelian Inheritance in Man
1991
The Emergence of Modern Neuroscience: Some Implications for Neurology and Psychiatry
2000 StandoutNobel
Losartan, an AT1 Antagonist, Prevents Aortic Aneurysm in a Mouse Model of Marfan Syndrome
2006 StandoutScience
Identification and regional localization of DNA markers on chromosome 7 for the cloning of the cystic fibrosis gene.
1988
The Structure of Haplotype Blocks in the Human Genome
2002 StandoutScience
Systemic delivery of antisense oligoribonucleotide restores dystrophin expression in body-wide skeletal muscles
2004 StandoutNobel
Lipopolysaccharide modulates the expression of alpha 1 proteinase inhibitor and other serine proteinase inhibitors in human monocytes and macrophages.
1987
Works of Andreas Speer being referenced
Relationship of polymorphisms in the renin-angiotensin system and in E-selectin of patients with early severe coronary heart disease
1997
Polymerase chain reaction for detection of the pMP6d-9/MspI RFLP, a marker closely linked to the cystic fibrosis mutation
1989
Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies
1988
Studies of the coding region of the neuronal glutamate transporter gene in amyotrophic lateral sclerosis
1995
Crossovers in two German cystic fibrosis families determine probe order for MET, 7C22 and XV-2c/CS.7
1987
Linkage disequilibrium between RFLP haplotype 2 and the affected PAH allele in PKU families from the Berlin area of the German Democratic Republic
1988
Preferential deletion of exons in Duchenne and Becker muscular dystrophies
1987 Nature
The isolation of a clone for human α 1-antitrypsin and the detection of α 1-antitrypsin in mRNA from liver and leukocytes
1983
Molecular analysis of Duschenne and Becker muscular dystrophies
1989
Deletions of fetal and adult muscle cDNA in Duchenne and Becker muscular dystrophy patients.
1987
Human X chromosome markers and Duchenne muscular dystrophy
1985