Standout Papers
Citation Impact
Citing Papers
Hypoxia and intra-complex genetic suppressors rescue complex I mutants by a shared mechanism
2024 StandoutNobel
Free radicals, antioxidants, and human disease: curiosity, cause, or consequence?
1994 Standout
Cyclic Administration of Pamidronate in Children with Severe Osteogenesis Imperfecta
1998
Clinical and Genetic Features of Ehlers–Danlos Syndrome Type IV, the Vascular Type
2000 Standout
Osteogenesis imperfecta. Rehabilitation and prospects for gene therapy
1997
Do Antidepressants Have an Analgesic Effect in Psychogenic Pain and Somatoform Pain Disorder? A Meta-Analysis
1998
Identification of small RNA pathway genes using patterns of phylogenetic conservation and divergence
2012 StandoutNatureNobel
Applying genomic and transcriptomic advances to mitochondrial medicine
2021
Neuropsychiatric Disorders Caused by Cobalamin Deficiency in the Absence of Anemia or Macrocytosis
1988 Standout
Progesterone and the Risk of Preterm Birth among Women with a Short Cervix
2007 Standout
The Mechanical Properties of Skin in Osteogenesis Imperfecta
2002
Hallmarks of aging: An expanding universe
2023 Standout
The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome
1998
The nitric oxide and cGMP signal transduction system: regulation and mechanism of action
1993
Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels
1997
A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology
2008 Standout
NO•, CO and •OH Endogenous soluble guanylyl cyclase‐activating factors
1992
Compensatory Growth of Healthy Cardiac Cells in the Presence of Diseased Cells Restores Tissue Homeostasis during Heart Development
2008
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
1991 StandoutNature
Renal structure in early autosomal-dominant polycystic kidney disease (ADPKD): The Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease (CRISP) cohort1
2003
Intravenous pamidronate treatment in osteogenesis imperfecta
1997
Extracellular Proteins Needed for C. elegans Mechanosensation
1996 StandoutNobel
Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency
1998
A Quantitative Assessment of Plasma Homocysteine as a Risk Factor for Vascular Disease
1995 Standout
Sirolimus for Angiomyolipoma in Tuberous Sclerosis Complex or Lymphangioleiomyomatosis
2008 Standout
Mitochondria: In Sickness and in Health
2012 Standout
A New Equation to Estimate Glomerular Filtration Rate
2009 Standout
Mitral valve prolapse and the mitral valve prolapse syndrome
1991
Oxidative demethylation by Escherichia coli AlkB directly reverts DNA base damage
2002 StandoutNatureNobel
Ferroptosis: An Iron-Dependent Form of Nonapoptotic Cell Death
2012 Standout
TRP channels as cellular sensors
2003 StandoutNature
The strength of a calcified tissue depends in part on the molecular structure and organization of its constituent mineral crystals in their organic matrix
1995
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
1998
Nonaccidental Head Injury in Infants — The “Shaken-Baby Syndrome”
1998 Standout
Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease
1993
Genetic heterogeneity in adult dominant polycystic kidney disease in Cypriot families
1995
The iron(II) and 2-oxoacid-dependent dioxygenases and their role in metabolism (1967 to 1999)
2000
Mesenchymal stem cells for treatment of steroid-resistant, severe, acute graft-versus-host disease: a phase II study
2008 Standout
Nongenital malformations following exposure to progestational drugs: The last chapter of an erroneous allegation
2005
Mitochondrial disorders caused by mutations in respiratory chain assembly factors
2011
Studies of collagen synthesis and structure in the differentiation of child abuse from osteogenesis imperfecta
1996
Brittle bones - fragile molecules: disorders of collagen gene structure and expression
1990
WHSC1, a 90 kb SET Domain-Containing Gene, Expressed in Early Development and Homologous to a Drosophila Dysmorphy Gene Maps in the Wolf-Hirschhorn Syndrome Critical Region and is Fused to IgH in t(1;14) Multiple Myeloma
1998
The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains
1995
Autosomal dominant polycystic kidney disease: evidence for the existence of a third locus in a Portuguese family
1995
Identification of the copper chaperone SAH in Ovis aries: expression analysis and in vitro interaction of SAH with ATP7B
2000
Somatic Inactivation of Pkd2 Results in Polycystic Kidney Disease
1998
Higher total plasma homocysteine in vitamin B12 deficiency than in heterozygosity for homocystinuria due to cystathionine β-synthase deficiency
1988
Tolvaptan in Patients with Autosomal Dominant Polycystic Kidney Disease
2012 Standout
Integrative genomics identifies MCU as an essential component of the mitochondrial calcium uniporter
2011 StandoutNature
Immunobiology of Human Mesenchymal Stem Cells and Future Use in Hematopoietic Stem Cell Transplantation
2005
Spontaneous Dissection of the Carotid and Vertebral Arteries
2001 Standout
Evidence for a third genetic locus for autosomal dominant polycystic kidney disease
1995
Matrix Crosslinking Forces Tumor Progression by Enhancing Integrin Signaling
2009 Standout
Hyperhomocysteinemia: An Independent Risk Factor for Vascular Disease
1991 Standout
Elevation of total homocysteine in the serum of patients with cobalamin or folate deficiency detected by capillary gas chromatography-mass spectrometry.
1988
Kinky hair disease: Twenty five years later
1988
Homocysteine and Atherothrombosis
1998 Standout
Mutation Analysis of the Entire PKD1 Gene: Genetic and Diagnostic Implications
2001
PhyloGene server for identification and visualization of co-evolving proteins using normalized phylogenetic profiles
2015 StandoutNobel
Intensive Insulin Therapy in the Medical ICU
2006 Standout
Protection of hepatocyte mitochondrial ultrastructure and function by strict blood glucose control with insulin in critically ill patients
2005
A trithorax-group complex purified from Saccharomyces cerevisiae is required for methylation of histone H3
2001 StandoutNobel
Biochemistry of Nitric Oxide and Its Redox-Activated Forms
1992 StandoutScience
Materials become insensitive to flaws at nanoscale: Lessons from nature
2003 Standout
Polycystin, the polycystic kidney disease 1 protein, is expressed by epithelial cells in fetal, adult, and polycystic kidney.
1996 StandoutNobel
Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations.
1996
Pharmacological interventions for somatoform disorders in adults
2014 Standout
Neurovascular manifestations of heritable connective tissue disorders. A review.
1994
Autosomal dominant polycystic kidney disease: Localization of the second gene to chromosome 4q13–q23
1993
Dihydropteridine reductase from Escherichia coli.
1988
Relation between Complications of Type I Diabetes Mellitus and Collagen-Linked Fluorescence
1986 Standout
A novel evolutionarily conserved domain of cell-adhesion GPCRs mediates autoproteolysis
2012 StandoutNobel
Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta.
1985
Bone biology. II: Formation, form, modeling, remodeling, and regulation of cell function.
1996
Copper Homeostasis and Neurodegenerative Disorders (Alzheimer's, Prion, and Parkinson's Diseases and Amyotrophic Lateral Sclerosis)
2006 Standout
Complex I deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndrome
2010
PKD2 , a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein
1996 StandoutScience
Bone Biology
1995
OSTEOGENESIS IMPERFECTA IS LINKED TO BOTH TYPE I COLLAGEN STRUCTURAL GENES
1986
Pamidronate Treatment of Severe Osteogenesis Imperfecta in Children under 3 Years of Age*
2000
Mitochondrial complex I: Structure, function and pathology
2006
ACC/AHA 2006 Guidelines for the Management of Patients With Valvular Heart Disease
2006 Standout
Dioxygen Activation at Mononuclear Nonheme Iron Active Sites: Enzymes, Models, and Intermediates
2004 Standout
Transient Regenerative Potential of the Neonatal Mouse Heart
2011 StandoutScience
Mitochondrial Diseases in Man and Mouse
1999 StandoutScience
Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta.
1990
The presence and distribution of reduced folates in Escherichia coli dihydrofolate reductase mutants.
1990 StandoutNobel
Defects In The Biochemistry Of Collagen In Diseases Of Connective Tissue
1976
Refining the localization of the PKD2 locus on chromosome 4q by linkage analysis in Spanish families with autosomal dominant polycystic kidney disease type 2.
1995
Genetic Dissection of Complex Traits
1994 StandoutScience
Cloning and characterization of a functional human homolog of Escherichia coli endonuclease III
1997 StandoutNobel
Evaluation of models for the mechanism of action of 4-hydroxyphenylpyruvate dioxygenase
1981
Respiratory chain complex I deficiency
1999
The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16
1994
Studies of the HER-2/ neu Proto-Oncogene in Human Breast and Ovarian Cancer
1989 StandoutScience
Isolated allogeneic bone marrow-derived mesenchymal cells engraft and stimulate growth in children with osteogenesis imperfecta: Implications for cell therapy of bone
2002 Standout
Free Radicals in the Physiological Control of Cell Function
2002 Standout
A New Approach to Mineralization of Biocompatible Hydrogel Scaffolds: An Efficient Process toward 3-Dimensional Bonelike Composites
2003 StandoutNobel
Metals in Neurobiology: Probing Their Chemistry and Biology with Molecular Imaging
2008 Standout
Caeruloplasmin: Physiological and Pathological Perspectives
1981
Works of D. M. Danks being referenced
Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease
1992
Evaluation of ultrasonographic diagnostic criteria for autosomal dominant polycystic kidney disease 1
1994
Leigh syndrome: Clinical features and biochemical and DNA abnormalities
1996
A study of the role of metallothionein in the inherited copper toxicosis of dogs
1986
VARIANT FORMS OF PHENYLKETONURIA
1976
Isolation and characterization of dihydropteridine reductase from human liver
1981
Mental retardation, unusual face, and intrauterine growth retardation: A new recessive syndrome?
1984
Cytochrome c oxidase deficiency in subacute necrotizing encephalopathy (Leigh syndrome)
1988
Clinical variability in osteogenesis imperfecta-variable expressivity or genetic heterogeneity.
1979
HOMOCYSTINURIA, ADDISONIAN PERNICIOUS ANÆMIA, AND PARTIAL DELETION OF A G CHROMOSOME
1969
Excretion of cis- and trans-4-hydroxycyclohexylacetic acid in addition to hawkinsin in a family with a postulated defect of 4-hydroxyphenylpyruvate dioxygenase
1978
Genetic heterogeneity in osteogenesis imperfecta.
1979 Standout
MENKES' KINKY-HAIR SYNDROME
1972