Citation Impact
Citing Papers
rMATS: Robust and flexible detection of differential alternative splicing from replicate RNA-Seq data
2014 Standout
A genomic region associated with protection against severe COVID-19 is inherited from Neandertals
2021 StandoutNobel
Formylglycine-generating enzyme binds substrate directly at a mononuclear Cu(I) center to initiate O 2 activation
2019 StandoutNobel
The timing of human adaptation from Neanderthal introgression
2021
Induction of Colonic Regulatory T Cells by Indigenous Clostridium Species
2010 StandoutScience
RSEM: accurate transcript quantification from RNA-Seq data with or without a reference genome
2011 Standout
Hypoxia and intra-complex genetic suppressors rescue complex I mutants by a shared mechanism
2024 StandoutNobel
Lipoic acid metabolism and mitochondrial redox regulation
2017
Systematic Analysis of Reportedly Distinct Populations of Multipotent Bone Marrow-Derived Stem Cells Reveals a Lack of Distinction
2002
Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology
2017
Mammalian Fe–S cluster biogenesis and its implication in disease
2014
Mammalian Mitochondrial Complex I Structure and Disease-Causing Mutations
2018
Alternative isoform regulation in human tissue transcriptomes
2008 StandoutNature
Newborn Hearing Screening — A Silent Revolution
2006 Standout
StringTie enables improved reconstruction of a transcriptome from RNA-seq reads
2015 Standout
Fibroblast Growth Factor 23 and Mortality among Patients Undergoing Hemodialysis
2008 Standout
The nonmotile ciliopathies
2009
Transplantation of allograft chondrocytes embedded in agarose gel into cartilage defects of rabbits
1998
Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene
2006
Abnormal Collagen Assembly, though Normal Phenotype, in Alginate Bead Cultures of Chick Embryo Chondrocytes
1999
A bit of give and take: the relationship between the extracellular matrix and the developing chondrocyte
2003
Spermidine Promotes Human Hair Growth and Is a Novel Modulator of Human Epithelial Stem Cell Functions
2011
Articular cartilage repair: basic science and clinical progress. A review of the current status and prospects
2002 Standout
Glycosylation in Cellular Mechanisms of Health and Disease
2006 Standout
Cbfa1, a Candidate Gene for Cleidocranial Dysplasia Syndrome, Is Essential for Osteoblast Differentiation and Bone Development
1997 Standout
Mutations Involving the Transcription Factor CBFA1 Cause Cleidocranial Dysplasia
1997 Standout
Mutations in Two Nonhomologous Genes in a Head-to-Head Configuration Cause Ellis-van Creveld Syndrome
2003
Biological Functions of Autophagy Genes: A Disease Perspective
2019 Standout
Mitochondria: In Sickness and in Health
2012 Standout
FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism
2011 Standout
Correlations of genotype and phenotype in hypophosphatasia
1999
Mechanically Activated Ion Channels
2015 StandoutNobel
Cartilage morphogenetic proteins: role in joint development, homoeostasis, and regeneration
2003
Modeling human congenital disorder of glycosylation type IIa in the mouse: conservation of asparagine-linked glycan-dependent functions in mammalian physiology and insights into disease pathogenesis
2001
Injectable biodegradable hydrogel composites for rabbit marrow mesenchymal stem cell and growth factor delivery for cartilage tissue engineering
2007
Energetics in the pathogenesis of neurodegenerative diseases
2000
Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation
2010 Standout
Ankylosing spondylitis
2007 Standout
Toward a molecular understanding of skeletal development
1995
Electrospun nanofibrous structure: A novel scaffold for tissue engineering
2002 Standout
Cell Adhesion: The Molecular Basis of Tissue Architecture and Morphogenesis
1996 Standout
Lipid-droplet-accumulating microglia represent a dysfunctional and proinflammatory state in the aging brain
2020 StandoutNobel
Initial sequence of the chimpanzee genome and comparison with the human genome
2005 StandoutNature
Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann–Pick C1 disease — Lysosomal storage disorders caused by defects of non-lysosomal proteins
2008
Expansion of the eukaryotic proteome by alternative splicing
2010 StandoutNature
Wilson's disease and other neurological copper disorders
2014
A Targetable Fluorescent Sensor Reveals That Copper-Deficient SCO1 and SCO2 Patient Cells Prioritize Mitochondrial Copper Homeostasis
2011
Hypoxia Rescues Frataxin Loss by Restoring Iron Sulfur Cluster Biogenesis
2019 StandoutNobel
Authentic Matrix Vesicles Contain Active Metalloproteases (MMP)
2001
Collagen in tissue-engineered cartilage: Types, structure, and crosslinks
1998
Argonaute CLIP Defines a Deregulated miR-122-Bound Transcriptome that Correlates with Patient Survival in Human Liver Cancer
2017 StandoutNobel
New insights into the function of collagens from genetic analysis
1995
Understanding the Intersections between Metabolism and Cancer Biology
2017 Standout
Klotho converts canonical FGF receptor into a specific receptor for FGF23
2006 StandoutNature
Repertoires of Autophagy in the Pathogenesis of Ocular Diseases
2015 Standout
Electrospinning: A Fascinating Method for the Preparation of Ultrathin Fibers
2007 Standout
Lipoic Acid Synthetase Deficiency Causes Neonatal-Onset Epilepsy, Defective Mitochondrial Energy Metabolism, and Glycine Elevation
2011
Mesenchymal stem cells within tumour stroma promote breast cancer metastasis
2007 StandoutNature
Cartilage-derived morphogenetic proteins and cartilage morphogenesis
1998
Amyotrophic Lateral Sclerosis
2001 Standout
The primary cilium: a signalling centre during vertebrate development
2010 Standout
Mutations and polymorphisms in the human ornithine transcarbamylase gene
2002
The evolution of gene expression levels in mammalian organs
2011 StandoutNatureNobel
Copper Chaperones for Cytochrome c Oxidase and Human Disease
2002
The Ciliopathies: An Emerging Class of Human Genetic Disorders
2006
Multilineage Potential of Adult Human Mesenchymal Stem Cells
1999 StandoutScience
GEL ENTRAPMENT AND MICRO-ENCAPSULATION: METHODS, APPLICATIONS AND ENGINEERING PRINCIPLES
1996
S113R mutation in Slc33a1 leads to neurodegeneration and augmented BMP signaling in a mouse model
2016
Culture expanded canine mesenchymal stem cells possess osteochondrogenic potential in vivo and in vitro
1997
Tissue-nonspecific alkaline phosphatase and plasma cell membrane glycoprotein-1 are central antagonistic regulators of bone mineralization
2002 Standout
Hydrogels for Tissue Engineering
2001 Standout
Frontiers in Tissue Engineering
1999
Increased transport of acetyl‐CoA into the endoplasmic reticulum causes a progeria‐like phenotype
2018
Culture Expanded Canine Mesenchymal Stem Cells Possess Osteochondrogenic Potential in Vivo and in Vitro
1997
Evc is a positive mediator of Ihh-regulated bone growth that localises at the base of chondrocyte cilia
2007
Exploring and Engineering the Cell Surface Interface
2005 StandoutScience
Spermidine in health and disease
2018 StandoutScience
Lipoic acid biosynthesis defects
2014
Fluorescent Sensors for Measuring Metal Ions in Living Systems
2014 Standout
Colloidosomes: Selectively Permeable Capsules Composed of Colloidal Particles
2002 StandoutScience
Copper induces cell death by targeting lipoylated TCA cycle proteins
2022 StandoutScience
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23
2000
Metabolism of [U‐13C]glucose in human brain tumors in vivo
2012
Electrospinning of Nanofibers: Reinventing the Wheel?
2004 Standout
Heteroplasmy for the 1555A>G mutation in the mitochondrial 12S rRNA gene in six Spanish families with non-syndromic hearing loss
2003
Growth Factors, Matrices, and Forces Combine and Control Stem Cells
2009 StandoutScience
TopHat: discovering splice junctions with RNA-Seq
2009 Standout
Regulation of Rate of Cartilage Differentiation by Indian Hedgehog and PTH-Related Protein
1996 StandoutScience
Design Strategies for Water-Soluble Small Molecular Chromogenic and Fluorogenic Probes
2013 Standout
Metals in Neurobiology: Probing Their Chemistry and Biology with Molecular Imaging
2008 Standout
Inherited Mitochondrial Diseases of DNA Replication
2007
Possible interference between tissue-non-specific alkaline phosphatase with an Arg54→Cys substitution and a counterpart with an Asp277→Ala substitution found in a compound heterozygote associated with severe hypophosphatasia
2000 StandoutNobel
Works of Peter Freisinger being referenced
Reexpression of Cartilage-Specific Genes by Dedifferentiated Human Articular Chondrocytes Cultured in Alginate Beads
1994
Hepatocerebral Mitochondrial DNA Depletion Syndrome Caused by Deoxyguanosine Kinase (DGUOK) Mutations
2006
Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin
2012
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency
2011
Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia
1998
Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis
2000
Mitochondrial Protein Lipoylation and the 2-Oxoglutarate Dehydrogenase Complex Controls HIF1α Stability in Aerobic Conditions
2016
Mitochondrial Phosphate–Carrier Deficiency: A Novel Disorder of Oxidative Phosphorylation
2007
Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity
1998
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochromec oxidase deficiency
1999
An atypical form of mucolipidosis III.
1992
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders
2014
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown‐Vialetto‐Van Laere syndrome
2012
Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes.
1994
Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings
2012
Spectrum of combined respiratory chain defects
2015
Carbohydrate‐deficient glycoprotein syndrome type 2
1999
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy
2001