Citation Impact
Citing Papers
Gene set enrichment analysis: A knowledge-based approach for interpreting genome-wide expression profiles
2005 Standout
Widespread Parallel Evolution in Sticklebacks by Repeated Fixation of Ectodysplasin Alleles
2005 StandoutScience
TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
2008 StandoutScience
Ubiquitinated TDP-43 in Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis
2006 StandoutScience
A family with osteoporosis pseudoglioma syndrome due to compound heterozygosity of two novel mutations in the LRP5 gene
2006
Common fragile sites
2003
mTOR Signaling in Growth Control and Disease
2012 Standout
The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky- Pudlak syndrome and night blindness
1999
ATR Regulates Fragile Site Stability
2002
Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome
2003 StandoutNature
A rapid in vitro assay for HIV DNA integration
1991
TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration
2010
Cancer Metastasis: Building a Framework
2006 Standout
DNA damage response as a candidate anti-cancer barrier in early human tumorigenesis
2005 StandoutNature
Severely Suppressed Bone Turnover: A Potential Complication of Alendronate Therapy
2005
Autophagy fights disease through cellular self-digestion
2008 StandoutNature
Nucleotide Dependent Motion and Mechanism of Action of p97/VCP
2005
Mechanisms of action of bisphosphonates: similarities and differences and their potential influence on clinical efficacy
2008
The Anhidrotic Ectodermal Dysplasia Gene (EDA) Undergoes Alternative Splicing and Encodes Ectodysplasin-A with Deletion Mutations in Collagenous Repeats
1998
AAA+ proteins: have engine, will work
2005
A Physical Map of Human Chromosome 7: An Integrated YAC Contig Map with Average STS Spacing of 79 kb
1997
Identification of amino acid residues critical for endonuclease and integration activities of HIV-1 IN protein in Vitro
1992
Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology
2013
Bone Quality — The Material and Structural Basis of Bone Strength and Fragility
2006 Standout
HIV-1 DNA integration: Mechanism of viral DNA cleavage and DNA strand transfer
1991
Autophagy: Renovation of Cells and Tissues
2011 Standout
Mapping and analysis of chromatin state dynamics in nine human cell types
2011 StandoutNature
Novel Ubiquitin Neuropathology in Frontotemporal Dementia WithValosin-Containing ProteinGene Mutations
2006
Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse
2001 StandoutNobel
Endostatin: An Endogenous Inhibitor of Angiogenesis and Tumor Growth
1997 Standout
Mitochondria: In Sickness and in Health
2012 Standout
Decoding ALS: from genes to mechanism
2016 StandoutNature
WNT signaling in bone homeostasis and disease: from human mutations to treatments
2013 Standout
A Stress-Responsive System for Mitochondrial Protein Degradation
2010
Frontotemporal dementia: Clinicopathological correlations
2006
Sulfation of N-Acetylglucosamine by Chondroitin 6-Sulfotransferase 2 (GST-5)
2000 StandoutNobel
The molecular basis of common and rare fragile sites
2005
Unexpectedly similar rates of nucleotide substitution found in male and female hominids
2000 Nature
Wnt/β-Catenin Signaling and Disease
2012 Standout
Autophagy in the Pathogenesis of Disease
2008 Standout
X-inactivation profile reveals extensive variability in X-linked gene expression in females
2005 StandoutNature
A Recurrent RNA-Splicing Mutation in the SEDL Gene Causes X-Linked Spondyloepiphyseal Dysplasia Tarda
2001
Conservation of PCDHX in mammals; expression of human X/Y genes predominantly in brain
2000
The roles of intracellular protein-degradation pathways in neurodegeneration
2006 Nature
Initial sequence of the chimpanzee genome and comparison with the human genome
2005 StandoutNature
Quantification of latent tissue reservoirs and total body viral load in HIV-1 infection
1997 StandoutNature
Matrix-embedded cells control osteoclast formation
2011
Emerging functions of the VCP/p97 AAA-ATPase in the ubiquitin system
2012
Identification of Three N-terminal Ends of Type XVIII Collagen Chains and Tissue-specific Differences in the Expression of the Corresponding Transcripts
1995
Principles and Properties of Stress Granules
2016
Denosumab for Prevention of Fractures in Postmenopausal Women with Osteoporosis
2009 Standout
Osteoclast differentiation and activation
2003 StandoutNature
LRP5 Mutations Linked to High Bone Mass Diseases Cause Reduced LRP5 Binding and Inhibition by SOST
2006
Methods in Mammalian Autophagy Research
2010 Standout
TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
2006 Standout
The Binding Between Sclerostin and LRP5 is Altered by DKK1 and by High-Bone Mass LRP5 Mutations
2008
Identification of the catalytic and DNA-binding region of the human immunodeficiency virus type I integrase protein
1993
Cystic fibrosis: molecular biology and therapeutic implications
1992 StandoutScience
Wnt Antagonists Bind through a Short Peptide to the First β-Propeller Domain of LRP5/6
2011
Sipuleucel-T Immunotherapy for Castration-Resistant Prostate Cancer
2010 Standout
Bisphosphonates: The first 40years
2011
Requirements for the catalytic cycle of the N-ethylmaleimide-Sensitive Factor (NSF)
2011
Biology and Applications of CRISPR Systems: Harnessing Nature’s Toolbox for Genome Engineering
2016 StandoutNobel
A novel ATP‐dependent conformation in p97 N–D1 fragment revealed by crystal structures of disease‐related mutants
2010
Integrase-mediated spacer acquisition during CRISPR–Cas adaptive immunity
2015 StandoutNatureNobel
Activation of the DNA damage checkpoint and genomic instability in human precancerous lesions
2005 StandoutNature
Repertoires of Autophagy in the Pathogenesis of Ocular Diseases
2015 Standout
Clonal evolution in cancer
2012 StandoutNature
Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking
2006 StandoutNobel
No association of chromatin-modifying protein 2B with sporadic frontotemporal dementia
2006
Cytochrome P450 enzymes in drug metabolism: Regulation of gene expression, enzyme activities, and impact of genetic variation
2013 Standout
Identification of the first deletion in the LRP5 gene in a patient with Autosomal Dominant Osteopetrosis type I
2011
Formation of a stable complex between the human immunodeficiency virus integrase protein and viral DNA
1994
Single-cell transcriptomic analysis of Alzheimer’s disease
2019 StandoutNature
Altered Intersubunit Communication Is the Molecular Basis for Functional Defects of Pathogenic p97 Mutants
2013
Wnt/β-Catenin Signaling, Disease, and Emerging Therapeutic Modalities
2017 Standout
Histopathological changes underlying frontotemporal lobar degeneration with clinicopathological correlation
2005
Inflammatory bone loss: pathogenesis and therapeutic intervention
2012 Standout
Slc15a4, AP-3, and Hermansky-Pudlak syndrome proteins are required for Toll-like receptor signaling in plasmacytoid dendritic cells
2010 StandoutNobel
Osteoclastogenesis--current knowledge and future perspectives.
2009
Sequencing newly replicated DNA reveals widespread plasticity in human replication timing
2009
Domains of the integrase protein of human immunodeficiency virus type 1 responsible for polynucleotidyl transfer and zinc binding.
1993
A first-generation X-inactivation profile of the human X chromosome
1999
Inclusion-body myositis
2006
A Single-Dose Placebo-Controlled Study of AMG 162, a Fully Human Monoclonal Antibody to RANKL, in Postmenopausal Women
2004
Wnt10b Increases Postnatal Bone Formation by Enhancing Osteoblast Differentiation
2007
A Century of Alzheimer's Disease
2006 StandoutScience
Functional Coherence of the Human Y Chromosome
1997 StandoutScience
Inter-ring rotations of AAA ATPase p97 revealed by electron cryomicroscopy
2014
Contribution of Genetic Factors to the Pathogenesis of Paget's Disease of Bone and Related Disorders
2006
Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval.
1996
The Biology of Proteostasis in Aging and Disease
2015
Quiescent T Lymphocytes as an Inducible Virus Reservoir in HIV-1 Infection
1991 Science
Identification of conserved amino acid residues critical for human immunodeficiency virus type 1 integrase function in vitro
1992
Downregulation of MicroRNA-9 in iPSC-Derived Neurons of FTD/ALS Patients with TDP-43 Mutations
2013
Rapid solution assays for retroviral integration reactions and their use in kinetic analyses of wild-type and mutant Rous sarcoma virus integrases.
1993
Inhibitors of human immunodeficiency virus integrase.
1993 StandoutNobel
Protein structure prediction for the male-specific region of the human Y chromosome
2004 StandoutNobel
Identification of a Reservoir for HIV-1 in Patients on Highly Active Antiretroviral Therapy
1997 StandoutScience
Targeted integration of adeno-associated virus (AAV) into human chromosome 19.
1991
Activities of human immunodeficiency virus (HIV) integration protein in vitro: specific cleavage and integration of HIV DNA.
1991
A DNA insulator prevents repression of a targeted X-linked transgene but not its random or imprinted X inactivation
2006 StandoutNobel
Unique double-ring structure of the peroxisomal Pex1/Pex6 ATPase complex revealed by cryo-electron microscopy
2015 StandoutNobel
Molecular Mechanisms of Mammalian DNA Repair and the DNA Damage Checkpoints
2004 StandoutNobel
Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease
2009
The Human Genome Project: Reaching the Finish Line
1998 StandoutScienceNobel
Liquid phase condensation in cell physiology and disease
2017 StandoutScience
A locus on chromosome 9p confers susceptibility to ALS and frontotemporal dementia
2006 Nobel
Reversal of Integration and DNA Splicing Mediated by Integrase of Human Immunodeficiency Virus
1992 Science
Works of Steven Mumm being referenced
A variable domain of delayed replication in FRAXA fragile X chromosomes: X inactivation-like spread of late replication
1997
Evolution of the X-Specific Block Embedded in the Human Xq21.3/Yp11.1 Homology Region
1999
Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia
2008
The Val432Leu polymorphism of the CYP1B1 gene is associated with differences in estrogen metabolism and bone density
2008
Bisphosphonate-Induced Osteopetrosis
2003
Unraveling retrovirus integration
1990
Mapping human chromosomes by walking with sequence-tagged sites from end fragments of yeast artificial chromosome inserts
1992
Osteoprotegerin Deficiency and Juvenile Paget's Disease
2002
Evolutionary Features of the 4-Mb Xq21.3 XY Homology Region Revealed by a Map at 60-kb Resolution
1997
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
2004
Defining nucleic acid-binding properties of avian retrovirus integrase by deletion analysis
1991
A Five-Base Pair Deletion in the Sedlin Gene Causes Spondyloepiphyseal Dysplasia Tarda in a Six-Generation Arkansas Kindred*
2000
Historical Vignette: Hypophosphatasia: Molecular Diagnosis of Rathbun's Original Case
2001
Oropharyngeal Skeletal Disease Accompanying High Bone Mass and Novel LRP5 Mutation
2005