Citation Impact
Citing Papers
Oxidative Stress
2017 Standout
Genetic Influences on Brain Gene Expression in Rats Selected for Tameness and Aggression
2014 StandoutNobel
Neuronal apoptosis linked to EglN3 prolyl hydroxylase and familial pheochromocytoma genes: Developmental culling and cancer
2005 StandoutNobel
HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: Novel role of fumarate in regulation of HIF stability
2005 StandoutNobel
FGF signaling in skeletal development
1998
Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras.
1996
Skeletal disorders associated with fibroblast growth factor receptor mutatios
1997
Persistent kallikrein 5 activation induces atopic dermatitis-like skin architecture independent of PAR2 activity
2017 StandoutNobel
Sox9 Modulates Proliferation and Expression of Osteogenic Markers of Adipose-Derived Stem Cells (ASC)
2013 Standout
Diversity and Function of Mutations in P450 Oxidoreductase in Patients with Antley-Bixler Syndrome and Disordered Steroidogenesis
2005
Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
1996 Standout
The FGF family: biology, pathophysiology and therapy
2009 Standout
Clinical spectrum of fibroblast growth factor receptor mutations
1999
The R22X Mutation of the SDHD Gene in Hereditary Paraganglioma Abolishes the Enzymatic Activity of Complex II in the Mitochondrial Respiratory Chain and Activates the Hypoxia Pathway
2001
Cell Signaling by Receptor Tyrosine Kinases
2010 Standout
Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley–Bixler syndrome
2004
The basics about nitric oxide
2005
Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis
2002
Bad bones, absent smell, selfish testes: The pleiotropic consequences of human FGF receptor mutations
2005
Identification of small RNA pathway genes using patterns of phylogenetic conservation and divergence
2012 StandoutNatureNobel
The Biology of Cancer: Metabolic Reprogramming Fuels Cell Growth and Proliferation
2008 Standout
The Human Obesity Gene Map: The 2005 Update
2006
Childhood obesity: public-health crisis, common sense cure
2002 Standout
P450 oxidoreductase deficiency: a new form of congenital adrenal hyperplasia
2006
Glycosylation in Cellular Mechanisms of Health and Disease
2006 Standout
A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology
2008 Standout
Hereditary paraganglioma targets diverse paraganglia: Table 1
2002
Isotope-targeted glycoproteomics (IsoTaG): a mass-independent platform for intact N- and O-glycopeptide discovery and analysis
2015 StandoutNobel
Oxygen sensing by HIF hydroxylases
2004 StandoutNobel
A novel mutation, Ala315Ser, in FGFR2: a gene–environment interaction leading to craniosynostosis?
2000
Negative autoregulation of fibroblast growth factor receptor 2 expression characterizing cranial development in cases of Apert (P253R mutation) and Pfeiffer (C278F mutation) syndromes and suggesting a basis for differences in their cranial phenotypes
2001
The control of human mesenchymal cell differentiation using nanoscale symmetry and disorder
2007 Standout
The genetic basis of emotional behaviour in mice
2006
The NOX Family of ROS-Generating NADPH Oxidases: Physiology and Pathophysiology
2007 Standout
Primary open-angle glaucoma
2004 Standout
FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease
2002 Standout
Cell signaling, the essential role of O-GlcNAc!
2006
Developmental regulation of the growth plate
2003 StandoutNature
Indian hedgehog signaling regulates proliferation and differentiation of chondrocytes and is essential for bone formation
1999 Standout
Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-α prolyl hydroxylase
2005 Standout
Fibroblast growth factor signalling: from development to cancer
2010 Standout
Homozygous FGF3 mutations result in congenital deafness with inner ear agenesis, microtia, and microdontia
2008
Phenotypic findings due to trisomy 7p15.3-pter including theTWIST locus
2001
Variations on an inhibitory theme: phasic and tonic activation of GABAA receptors
2005 Standout
Fibroblast Growth Factor Receptor‐2 Mutations in Craniosynostosisa
1996
Retinitis pigmentosa
2006 Standout
Mutations that Cause Osteoglophonic Dysplasia Define Novel Roles for FGFR1 in Bone Elongation
2005
Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study
2004
SDH mutations in cancer
2011
O-GlcNAc a sensor of cellular state: the role of nucleocytoplasmic glycosylation in modulating cellular function in response to nutrition and stress
2004
Systematic identification of human mitochondrial disease genes through integrative genomics
2006
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome
2004
FGFR activation in skeletal disorders: Too much of a good thing
1997
The Human Obesity Gene Map: The 2001 Update
2002
Pathways to Parkinsonism Redux: convergent pathobiological mechanisms in genetics of Parkinson's disease
2015
Analysis of the Set of GABAA Receptor Genes in the Human Genome
2004
Functional Consequences of Succinate Dehydrogenase Mutations
2011
The Human Obesity Gene Map: The 2003 Update
2004
Impact of Informing Overweight Individuals about the Role of Genetics in Obesity: An Online Experimental Study
2013 Standout
Different rankings of inbred mouse strains on the Morris maze and a refined 4-arm water escape task
2005
Inborn errors of complex II – Unusual human mitochondrial diseases
2002
Mitochondrial TCA cycle metabolites control physiology and disease
2020 Standout
Linkage and Allelic Association of Chromosome 5 Cytokine Cluster Genetic Markers with Atopy and Asthma Associated Traits
2001
Cytochrome P450 enzymes in drug metabolism: Regulation of gene expression, enzyme activities, and impact of genetic variation
2013 Standout
Multiple hit hypotheses for dopamine neuron loss in Parkinson's disease
2007
Mitochondria and cancer
2012 Standout
Short-wavelength automated perimetry: it’s role in the clinic and for understanding ganglion cell function
2000
FGF signaling in the developing endochondral skeleton
2005
Genetics of Food Intake Self-Regulation in Childhood: Literature Review and Research Opportunities
2013 Standout
Glycosylation in cancer: mechanisms and clinical implications
2015 Standout
SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma–paraganglioma syndromes
2009
Mutations in SDHC cause autosomal dominant paraganglioma, type 3
2000
The Human Obesity Gene Map: The 2004 Update
2005
Morris water maze: procedures for assessing spatial and related forms of learning and memory
2006 Standout
Cell Signaling by Receptor Tyrosine Kinases
2000 Standout
Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): A disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley–Bixler syndrome phenotype
2004
The Fibroblast Growth Factor signaling pathway
2015 Standout
Pathophysiology of Human Visceral Obesity: An Update
2013 Standout
A Mitochondrial Paradigm of Metabolic and Degenerative Diseases, Aging, and Cancer: A Dawn for Evolutionary Medicine
2005 Standout
Metabolic cross-talk allows labeling of O-linked β- N -acetylglucosamine-modified proteins via the N -acetylgalactosamine salvage pathway
2011 StandoutNobel
Phenotypic consequences of lung-specific inducible expression of FGF-3
2001 StandoutNobel
Obesity and Cardiovascular Disease: Pathophysiology, Evaluation, and Effect of Weight Loss
2005 Standout
Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain
1998
Nanozymes: Classification, Catalytic Mechanisms, Activity Regulation, and Applications
2019 Standout
clr-1 encodes a receptor tyrosine phosphatase that negatively regulates an FGF receptor signaling pathway in Caenorhabditis elegans
1998 StandoutNobel
Transforming Growth Factor βs and Fibroblast Growth Factors and Their Receptors: Role in Sutural Biology and Craniosynostosis
1997
Mitochondrial Reactive Oxygen Species (ROS) and ROS-Induced ROS Release
2014 Standout
Microglia Function in the Central Nervous System During Health and Neurodegeneration
2017 Standout
A chemical approach for identifying O -GlcNAc-modified proteins in cells
2003 StandoutNobel
Craniosynostosis: genes and mechanisms
1997
Natriuretic Peptides, Their Receptors, and Cyclic Guanosine Monophosphate-Dependent Signaling Functions
2005 Standout
The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
2011 Standout
Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function
2004
Abnormal sterol metabolism in a patient with Antley‐Bixler syndrome and ambiguous genitalia
2002
Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.
1996
The Molecular and Genetic Basis of Fibroblast Growth Factor Receptor 3 Disorders: The Achondroplasia Family of Skeletal Dysplasias, Muenke Craniosynostosis, and Crouzon Syndrome with Acanthosis Nigricans
2000
The Emerging Significance of O-GlcNAc in Cellular Regulation
2002
The Molecular and Genetic Basis of Fibroblast Growth Factor Receptor 3 Disorders: The Achondroplasia Family of Skeletal Dysplasias, Muenke Craniosynostosis, and Crouzon Syndrome with Acanthosis Nigricans*
2000
Role ofVHLGene Mutation in Human Cancer
2004 StandoutNobel
Pheochromocytoma and Paraganglioma: An Endocrine Society Clinical Practice Guideline
2014 Standout
Works of Daniela Steinberger being referenced
High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa‐responsive dystonia
1998
Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma
2000
Molecular Diagnosis of Bilateral Coronal Synostosis
1999
Crouzon syndrome: Previously unrecognized deletion, duplication, and point mutation within FGFR2 gene
1996
MEHMO (mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly, obesity), a novel syndrome: assignment of disease locus to Xp21.1–p22.13
1998
FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation
1996
Heterozygous mutation in 5?-untranslated region of sepiapterin reductase gene (SPR) in a patient with dopa-responsive dystonia
2004
The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor
1998
Integrated physical and transcript map of 5q31.3-qter
1998
PGL3 , a third, not maternally imprinted locus in autosomal dominant paraganglioma
1999
Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome
1995
Clinical and molecular genetics of primary dystonias
1998
Crouzon syndrome: Previously unrecognized deletion, duplication, and point mutation within FGFR2 gene
1996
S (blue) cone pathway vulnerability in retinitis pigmentosa, diabetes and glaucoma.
1989
FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation
1996
A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.
1997
Mutation of FGFR2 (cys278phe) in craniolacunia and pansynostosis.
1999
Prominent basal emissary foramina in syndromic craniosynostosis: correlation with phenotypic and molecular diagnoses.
2000
Molecular genetics of craniosynostotic syndromes
1997
Genetic Mapping of Variation in Spatial Learning in the Mouse
2003