Citation Impact
Citing Papers
Characterizing and explaining the impact of disease-associated mutations in proteins without known structures or structural homologs
2022 StandoutNobel
Formylglycine-generating enzyme binds substrate directly at a mononuclear Cu(I) center to initiate O 2 activation
2019 StandoutNobel
Chondrocyte Differentiation
1995
Degeneration of the intervertebral disc.
2003 Standout
From DNA to proteins via the ribosome: Structural insights into the workings of the translation machinery
2010 StandoutNobel
Coupled 5′ Nucleotide Recognition and Processivity in Xrn1-Mediated mRNA Decay
2011 StandoutNobel
STRING v9.1: protein-protein interaction networks, with increased coverage and integration
2012 Standout
Achondroplasia
2007
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia
1995
The expanding RNA polymerase III transcriptome
2007
mRNA-based therapeutics — developing a new class of drugs
2014 StandoutNobel
Bad bones, absent smell, selfish testes: The pleiotropic consequences of human FGF receptor mutations
2005
The molecular basis of human retinal and vitreoretinal diseases
2010 Standout
A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14
1999
Progesterone and the Risk of Preterm Birth among Women with a Short Cervix
2007 Standout
The highways and byways of mRNA decay
2007
The OARSI histopathology initiative – recommendations for histological assessments of osteoarthritis in the guinea pig
2010 Standout
Degenerative Cervical Myelopathy
2015 Standout
Translation matters: protein synthesis defects in inherited disease
2007
Structure and function of long noncoding RNAs in epigenetic regulation
2013 Standout
Genotype phenotype correlation in achondroplasia and hypochondroplasia
1998
Predicting the Functional Effect of Amino Acid Substitutions and Indels
2012 Standout
The control of human mesenchymal cell differentiation using nanoscale symmetry and disorder
2007 Standout
The new bone biology: Pathologic, molecular, and clinical correlates
2006
FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease
2002 Standout
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation
2006
Sox9 is required for cartilage formation
1999 Standout
Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders
2002
Inhibiting eukaryotic transcription. Which compound to choose? How to evaluate its activity?
2011 Standout
Fibroblast growth factor signalling: from development to cancer
2010 Standout
Computational tools for prioritizing candidate genes: boosting disease gene discovery
2012
Extracellular matrix structure
2015 Standout
The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
1997 Standout
Molecular Mechanisms of Stress-Responsive Changes in Collagen and Elastin Networks in Skin
2016 Standout
The unanticipated difficult airway with recommendations for management
1998 Standout
The Collagen Family
2010 Standout
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
2009 Standout
Mutations that Cause Osteoglophonic Dysplasia Define Novel Roles for FGFR1 in Bone Elongation
2005
Cell Adhesion: The Molecular Basis of Tissue Architecture and Morphogenesis
1996 Standout
Predicting the functional impact of protein mutations: application to cancer genomics
2011
The role of structural genes in the pathogenesis of osteoarthritic disorders.
2002
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
Influence of Disease-Causing Mutations on Protein Structural Networks
2021
Remodelling the extracellular matrix in development and disease
2014 Standout
Sixteen years and counting: The current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias
2011
Insights into RNA structure and function from genome-wide studies
2014 StandoutNobel
Neurosurgical implications of achondroplasia
2009
Nongenital malformations following exposure to progestational drugs: The last chapter of an erroneous allegation
2005
Genetic and orthopedic aspects of collagen disorders
2009
Extracellular Matrix Molecules: Potential Targets in Pharmacotherapy
2009
RNA-based affinity purification reveals 7SK RNPs with distinct composition and regulation
2007
New insights into the function of collagens from genetic analysis
1995
Information analysis of human splice site mutations
1998
Computational approaches to disease‐gene prediction: rationale, classification and successes
2012
Xeroderma Pigmentosum Group C Splice Mutation Associated with Autism and Hypoglycinemia11An abstract of this manuscript was presented at the annual meeting of the Society for Investigative Dermatology in Washington, DC
1998 StandoutNobel
Treasure hunt in an amoeba: non-coding RNAs in Dictyostelium discoideum
2006
The many roles of histone deacetylases in development and physiology: implications for disease and therapy
2008 Standout
The small RNA repertoire of Dictyostelium discoideum and its regulation by components of the RNAi pathway
2007 StandoutNobel
DNA-PKcs has KU-dependent function in rRNA processing and haematopoiesis
2020 StandoutNatureNobel
Light and electron microscopic features of the liver in mucopolysaccharidosis
1994
22q11.2 deletion syndrome
2015 Standout
Are animal models useful for studying human disc disorders/degeneration?
2007 Standout
FGF signaling in the developing endochondral skeleton
2005
Hepatic Stellate Cells: Protean, Multifunctional, and Enigmatic Cells of the Liver
2008 Standout
Osteoarthritis in temporomandibular joint of Col2a1 mutant mice
2013
Molecular mechanisms of mTOR-mediated translational control
2009 Standout
The Fibroblast Growth Factor signaling pathway
2015 Standout
Glycosaminoglycans and their proteoglycans: host‐associated molecular patterns for initiation and modulation of inflammation
2006 Standout
Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.
1996
RNA–protein analysis using a conditional CRISPR nuclease
2013 StandoutNobel
The cBio Cancer Genomics Portal: An Open Platform for Exploring Multidimensional Cancer Genomics Data
2012 Standout
Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association
1981 Standout
The extracellular matrix at a glance
2010 Standout
Integrative Analysis of Complex Cancer Genomics and Clinical Profiles Using the cBioPortal
2013 Standout
Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165
2012
Natriuretic Peptides, Their Receptors, and Cyclic Guanosine Monophosphate-Dependent Signaling Functions
2005 Standout
Human RPS19, the gene mutated in Diamond-Blackfan anemia, encodes a ribosomal protein required for the maturation of 40S ribosomal subunits
2006
COLOBOMATA OF THE IRIS, CILIARY BODY AND CHOROID IN AN INFANT WITH OESOPHAGO‐TRACHEAL FISTULA AND CONGENITAL HEART DEFECTS. AN UNKNOWN MALFORMATION COMPLEX
1980
Formylglycine, a Post-Translationally Generated Residue with Unique Catalytic Capabilities and Biotechnology Applications
2014 StandoutNobel
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
1995
Ribosomopathies: human disorders of ribosome dysfunction
2010
Dwarfism and age-associated spinal degeneration of heterozygote cmd mice defective in aggrecan
1997
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
Current Understanding of Pathogenesis and Treatment of TMJ Osteoarthritis
2015 Standout
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
Investigating the functional link between TMEM165 and SPCA1
2019 StandoutNobel
An index of syndromes and their anaesthetic implications
1976
Works of J. Spranger being referenced
Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator
2005
Cerebral spinal fluid flow, venous drainage and spinal cord compression in achondroplastic children: impact of magnetic resonance findings for decompressive surgery at the cranio-cervical junction
2001
Alternative splicing as the result of a type II procollagen gene (COL2A1) mutation in a patient with Kniest dysplasia
1994
Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia
2006
Cognitive skills in achondroplasia
1993
Missense mutation in theN-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG
2006
Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect
1993
Abnormal subcortical somatosensory evoked potentials indicate high cervical myelopathy in achondroplasia
1999
A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia
2000
[Vater or Vacterl syndrome (author's transl)].
1976
Hypochondroplasia: Clinical and Radiological Aspects in 39 cases
1979
Pyleʼs Disease (Familial Metaphyseal Dysplasia)
1970
Clinicopathological conference: An adolescent girl with severe mental impairment and mucopolysacchariduria
1985