Citation Impact
Citing Papers
Metabolomics analysis reveals large effects of gut microflora on mammalian blood metabolites
2009 Standout
HIF-1-Mediated Suppression of Acyl-CoA Dehydrogenases and Fatty Acid Oxidation Is Critical for Cancer Progression
2014 StandoutNobel
Mass spectrometry‐based metabolomics
2006 Standout
The neural basis of drug craving: An incentive-sensitization theory of addiction
1993 Standout
Measuring the metabolome: current analytical technologies
2005
Base-excision repair of oxidative DNA damage
2007 StandoutNature
Method validation strategies involved in non-targeted metabolomics
2014
Inducible Nitric-oxide Synthase and Nitric Oxide Production in Human Fetal Astrocytes and Microglia
1997 StandoutNobel
Stress-triggered activation of gene expression in catecholaminergic systems: dynamics of transcriptional events
2001
Melanin Pigmentation in Mammalian Skin and Its Hormonal Regulation
2004 Standout
Current trends and future requirements for the mass spectrometric investigation of microbial, mammalian and plant metabolomes
2008
Prevalence of Lysosomal Storage Disorders
1999 Standout
Cushing's syndrome
2015 Standout
Lifestyle-related factors and environmental agents causing cancer: An overview
2007 StandoutNobel
Nitric oxide synthases: Roles, tolls, and controls
1994 Standout
The muscular dystrophies
2002 Standout
Porphyrias
2010 Standout
Management of validation of HPLC method for determination of acetylsalicylic acid impurities in a new pharmaceutical product
2022 Standout
Validation of the Phenylalanine/Tyrosine Ratio Determined by Tandem Mass Spectrometry: Sensitive Newborn Screening for Phenylketonuria
2002
Molecular characterization of a novel defect occurring de novo associated with erythropoietic protoporphyria
1996
Neonatal screening for muscular dystrophy
1993
SOX2 is a dose-dependent regulator of retinal neural progenitor competence
2006 Standout
Systematic Analysis of Molecular Defects in the Ferrochelatase Gene from Patients with Erythropoietic Protoporphyria
1998
Cellular Metabolism and Disease: What Do Metabolic Outliers Teach Us?
2012
Synaptogyrins Regulate Ca2+-dependent Exocytosis in PC12 Cells
1999 StandoutNobel
Monovalent, reduced-size quantum dots for imaging receptors on living cells
2008 StandoutNobel
Identification of hereditary nonpolyposis colorectal cancer in the general population. The 6-year experience of a population-based registry
1993
Cardiomyopathy in Multiple Acyl-CoA Dehydrogenase Deficiency
2007
Essential Roles in Synaptic Plasticity for Synaptogyrin I and Synaptophysin I
1999 StandoutNobel
Increased Levels of Plasma Acylcarnitines in Obesity and Type 2 Diabetes and Identification of a Marker of Glucolipotoxicity
2010
Phenotypic differences in behavior, physiology and neurochemistry between rats selected for tameness and for defensive aggression towards humans
2007 StandoutNobel
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
2009 Standout
The ABC of APC
2001
A biochemical perspective on the use of tandem mass spectrometry for newborn screening and clinical testing
2005
Stress and the brain: from adaptation to disease
2005 Standout
A rapid method for detection of Y-chromosomal DNA from dried blood specimens by the polymerase chain reaction
1989
Metabolomics: the apogee of the omics trilogy
2012 Standout
Listening to silence and understanding nonsense: exonic mutations that affect splicing
2002 Standout
Hereditary Colorectal Cancer
2003 Standout
Cellular Fatty Acid Metabolism and Cancer
2013 Standout
Determination of tetrahydrobiopterin biosynthetic activities by high-performance liquid chromatography with fluorescence detection
1997
Seemingly Neutral Polymorphic Variants May Confer Immunity to Splicing-Inactivating Mutations: A Synonymous SNP in Exon 5 of MCAD Protects from Deleterious Mutations in a Flanking Exonic Splicing Enhancer
2007
Isolated 3-Methylcrotonyl-CoA Carboxylase Deficiency: Evidence for an Allele-Specific Dominant Negative Effect and Responsiveness to Biotin Therapy
2004
Behavioral sensitization to beta-phenylethylamine (PEA): enduring modifications of specific dopaminergic neuron systems in the rat
1990
Screening Newborns for Inborn Errors of Metabolism by Tandem Mass Spectrometry
2003
Targeting ferroptosis as a vulnerability in cancer
2022 Standout
New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative Group on HNPCC☆
1999 Standout
Discovery and resupply of pharmacologically active plant-derived natural products: A review
2015 Standout
Procedures for large-scale metabolic profiling of serum and plasma using gas chromatography and liquid chromatography coupled to mass spectrometry
2011 Standout
NF-κB, inflammation, immunity and cancer: coming of age
2018 Standout
Global metabolic profiling procedures for urine using UPLC–MS
2010 Standout
High Incidence of Later-Onset Fabry Disease Revealed by Newborn Screening*
2006 Standout
Fingerprinting food: current technologies for the detection of food adulteration and contamination
2012 Standout
Extracolonic manifestations of familial polyposis coli
1987
The Adenomatous Polyp and the Hereditary Polyposis Syndromes
1988
High performance liquid chromatography with metal-solute complexes
1978
Tetrahydrobiopterin biosynthesis, regeneration and functions
2000
Mechanisms of Insulin Action and Insulin Resistance
2018 Standout
A single promoter directs both housekeeping and erythroid preferential expression of the human ferrochelatase gene.
1994
Fundamentals of cancer metabolism
2016 Standout
Adrenocortical carcinoma: a clinician's update
2011
The Gardner Syndrome
1984
Erythropoietic protoporphyria
1997
Systemic Complications of Acromegaly: Epidemiology, Pathogenesis, and Management
2004 Standout
The MIQE Guidelines: Minimum Information for Publication of Quantitative Real-Time PCR Experiments
2009 Standout
Pteridine biosynthesis and nitric oxide synthase in Physarum polycephalum
1994
Sex determination of ancient human skeletons using DNA
1996 StandoutNobel
GENETICS OF SYNAPTIC VESICLE FUNCTION: Toward the Complete Functional Anatomy of an Organelle
1999 StandoutNobel
Mitochondrial Reactive Oxygen Species (ROS) and ROS-Induced ROS Release
2014 Standout
Tetrahydrobiopterin biosynthetic activities in human macrophages, fibroblasts, THP-1, and T 24 cells. GTP-cyclohydrolase I is stimulated by interferon-gamma, and 6-pyruvoyl tetrahydropterin synthase and sepiapterin reductase are constitutively present.
1990
Newborn screening for inborn errors of metabolism: a systematic review.
1997
β-Arrestin1 modulates lymphoid enhancer factor transcriptional activity through interaction with phosphorylated dishevelled proteins
2001 StandoutNobel
Acylcarnitines
2012
Fatty Acid Oxidation Disorders
2002
Inflammatory Bowel Disease
2010 Standout
GENETIC SCREENING: Carriers and Affected Individuals
2004
NITRIC OXIDE AND MACROPHAGE FUNCTION
1997 Standout
Screening for hyperglycaemia in pregnancy: a rapid update for the National Screening Committee
2010 StandoutNobel
Monomeric inducible nitric oxide synthase localizes to peroxisomes in hepatocytes
2005
Mitsugumin29, a novel synaptophysin family member from the triad junction in skeletal muscle
1998
Contents of Vitamins, Mineral Elements, and Some Phenolic Compounds in Cultivated Mushrooms
2001 Standout
Reactive Oxygen Species in Metabolic and Inflammatory Signaling
2018 Standout
Risk and surveillance of individuals with heritable factors for colorectal cancer. WHO Collaborating Centre for the Prevention of Colorectal Cancer.
1990
Pantophysin is a ubiquitously expressed synaptophysin homologue and defines constitutive transport vesicles.
1996
Expanded Newborn Screening for Inborn Errors of Metabolism by Electrospray Ionization-Tandem Mass Spectrometry: Results, Outcome, and Implications
2003
Tandem Mass Spectrometric Analysis for Amino, Organic, and Fatty Acid Disorders in Newborn Dried Blood Spots
2001
Metabolic Fingerprinting As A Diagnostic Tool
2007
Metabolomics for Investigating Physiological and Pathophysiological Processes
2019
Solvent-Dependent Metabolite Distribution, Clustering, and Protein Extraction for Serum Profiling with Mass Spectrometry
2005
A genetic study of Gardner syndrome and congenital hypertrophy of the retinal pigment epithelium.
1988
Molecular Origin of Blood‐Based Infrared Spectroscopic Fingerprints**
2021 StandoutNobel
Direct Multiplex Assay of Lysosomal Enzymes in Dried Blood Spots for Newborn Screening
2004
Coordination chemistry of chelating resins and ion exchangers
1984 Standout
Assessing Quality and Functionality of DNA from Fresh and Archival Dried Blood Spots and Recommendations for Quality Control Guidelines
2007
Dysregulation of the TSC-mTOR pathway in human disease
2004 Standout
Diagnosis and prevention of lysosomal storage diseases in Russia
1992
Analysis of the Human Ferrochelatase Promoter in Transgenic Mice
1998
MetaboAnalyst 5.0: narrowing the gap between raw spectra and functional insights
2021 Standout
Prevalence and Importance of Pigmented Ocular Fundus Lesions in Gardner's Syndrome
1987
Desmoid Tumors in Familial Polyposis Coli
1986
Works of Edwin W. Naylor being referenced
Sepiapterin reductase in cultured human cells
1987
Competition for Tetrahydrobiopterin between Phenylalanine Hydroxylase and Nitric Oxide Synthase in Rat Liver
1996
Effects of Cold Exposure on Rat Adrenal Tyrosine Hydroxylase: An Analysis of RNA, Protein, Enzyme Activity, and Cofactor Levels
1990
Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency*
2001
Medium Chain Acyl-CoA Dehydrogenase Deficiency in Pennsylvania: Neonatal Screening Shows High Incidence and Unexpected Mutation Frequencies
1995
Repetitive recycling of guanosine triphosphate cyclohydrolase I for synthesis of dihydroneopterin triphosphate
1989
Sepiapterin reductase in human amniotic and skin fibroblasts, chorionic villi, and various blood fractions
1988
A high throughput β-globin genotyping method by multiplexed melting temperature analysis
2004
Deletion of the ferrochelatase gene in a patient with protoporphyria
1994
Automated Tandem Mass Spectrometry for Mass Newborn Screening for Disorders in Fatty Acid, Organic Acid, and Amino Acid Metabolism
1999
Use of Tandem Mass Spectrometry for Multianalyte Screening of Dried Blood Specimens from Newborns
2003
Enzymatic studies of urinary isomeric chondroitin sulfates from patients with mucopolysaccharidoses. The application of high performance liquid chromatography
1980
A rapid screening test for Duchenne muscular dystrophy using dried blood specimens
1984
Adrenal adenomas in a patient with Gardner's syndrome
1981
Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry
1997
Rapid Diagnosis of Methylmalonic and Propionic Acidemias
2001
The Application of Tandem Mass Spectrometry to Neonatal Screening for Inherited Disorders of Intermediary Metabolism
2002
Plasma phenylethylamine and phenylalanine in chronic schizophrenic patients
1987
Desmoid Tumors and Mesenteric Fibromatosis in Gardner's Syndrome
1979
Newborn Screening for Maple Syrup Urine Disease (Branched-Chain Ketoaciduria)
1978
Electrospray Tandem Mass Spectrometry for Analysis of Acylcarnitines in Dried Postmortem Blood Specimens Collected at Autopsy from Infants with Unexplained Cause of Death
2001
Early Detection of Adenomatous Polyposis Coli in Gardner's Syndrome
1979
Penetrance and expressivity of the gene responsible for the Gardner syndrome
1977
Tryptophan and kynurenine determination in untreated urine by reversed-phase high-pressure liquid chromatography
1977
Gardner's syndrome
1980