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A Pro250Arg substitution in mouse Fgfr1 causes increased expression of Cbfa1 and premature fusion of calvarial sutures
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A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia
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Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia
1994
A Ser365->Cys mutation of fibroblast growth factor receptor 3 in mouse downregulates Ihh/PTHrP signals and causes severe achondroplasia
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Fibroblast-growth-factor receptor mutations in human skeletal disorders
1995
Disruption of the fibroblast growth factor-2 gene results in decreased bone mass and bone formation
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Mutations of the fibroblast growth factor receptor-3 gene in one familial and six sporadic cases of achondroplasia in Japanese patients
1995
Defects in enteric innervation and kidney development in mice lacking GDNF
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Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1)
1996
Inactivation of the FGF-4 Gene in Embryonic Stem Cells Alters the Growth and/or the Survival of Their Early Differentiated Progeny
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The ground state of embryonic stem cell self-renewal
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The transcription factor Sox10 is a key regulator of peripheral glial development
2001 Standout
Interaction of FGF, Ihh/Pthlh, and BMP Signaling Integrates Chondrocyte Proliferation and Hypertrophic Differentiation
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A Lys644Glu substitution in fibroblast growth factor receptor 3 (FGFR3) causes dwarfism in mice by activation of STATs and ink4 cell cycle inhibitors
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Spontaneous calcification of arteries and cartilage in mice lacking matrix GLA protein
1997 StandoutNature
Mapping and analysis of chromatin state dynamics in nine human cell types
2011 StandoutNature
Crouzon-like craniofacial dysmorphology in the mouse is caused by an insertional mutation at theFgf3/Fgf4 locus
1998 StandoutNobel
Regulation of Osteoblast, Chondrocyte, and Osteoclast Functions by Fibroblast Growth Factor (FGF)-18 in Comparison with FGF-2 and FGF-10
2002
FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease
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RET mutations in human disease
1996
Cytosine Methylation and DNA Repair
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MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM
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A unique chromatin signature uncovers early developmental enhancers in humans
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2002
From Genotype to Phenotype: The Differential Expression of FGF, FGFR, and TGFβ Genes Characterizes Human Cranioskeletal Development and Reflects Clinical Presentation in FGFR Syndromes
2001
Fibroblast Growth Factor Receptor‐2 Mutations in Craniosynostosisa
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Differential expression of fibroblast growth factor receptor-1, -2, and -3 and syndecan-1, -2, and -4 in neonatal rat mandibular condyle and calvaria during osteogenic differentiation in vitro
1999
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
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Toward a molecular understanding of skeletal development
1995
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family
1997 Standout
Mutation associated with Crouzon syndrome causes ligand-independent dimerization and activation of FGF receptor-2
1997
Initial sequence of the chimpanzee genome and comparison with the human genome
2005 StandoutNature
C-cell hyperplasia, pheochromocytoma and sympathoadrenal malformation in a mouse model of multiple endocrine neoplasia type 2B
2000
Mapping a gene for Noonan syndrome to the long arm of chromosome 12
1994
Fibroblast Growth Factor Receptor 3 Mutations Promote Apoptosis but Do Not Alter Chondrocyte Proliferation in Thanatophoric Dysplasia
1998
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans
1995
Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3
1996
Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes
1996
Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret
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A TRP Channel that Senses Cold Stimuli and Menthol
2002 StandoutNobel
Fibroblast Growth Factor Receptor 3 Is a Negative Regulator of Bone Growth
1996
GDNF signalling through the Ret receptor tyrosine kinase
1996 StandoutNature
FGFR activation in skeletal disorders: Too much of a good thing
1997
Enhanced Phosphatidylinositol 3-Kinase Activity and High Phosphorylation State of Its Downstream Signalling Molecules Mediated by Ret with the MEN 2B Mutation
1999
p63 is a p53 homologue required for limb and epidermal morphogenesis
1999 StandoutNature
GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5
2003 StandoutNature
Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease
1994 Nature
FGF18 is required for normal cell proliferation and differentiation during osteogenesis and chondrogenesis
2002
p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development
1999 StandoutNature
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
1997 StandoutNature
Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia
1997
A Rap GTPase interactor, RADIL, mediates migration of neural crest precursors
2007
Distribution of Fibroblast Growth Factor (FGF)-2 and FGF Receptor-1 Messenger RNA Expression and Protein Presence in the Mid-Trimester Human Fetus
1996
Molecular biology of amyotrophic lateral sclerosis: insights from genetics
2006
Renal agenesis and the absence of enteric neurons in mice lacking GDNF
1996 StandoutNature
Single Lgr5 stem cells build crypt-villus structures in vitro without a mesenchymal niche
2009 StandoutNature
The fibroblast growth factor receptor, FGFR3, forms gradients of intact and degraded protein across the growth plate of developing bovine ribs
2002
The tumour-suppressor gene patched encodes a candidate receptor for Sonic hedgehog
1996 StandoutNature
Mutations and polymorphisms in the human ornithine transcarbamylase gene
2002
Neurotrophic factor receptor RET: structure, cell biology, and inherited diseases
2007
A missense mutation of the endothelin-B receptor gene in multigenic hirschsprung's disease
1994
PTH/PTHrP Receptor in Early Development and Indian Hedgehog—Regulated Bone Growth
1996 StandoutScience
Melanocytes and theMicrophthalmiaTranscription Factor Network
2004
Phenotypic consequences of lung-specific inducible expression of FGF-3
2001 StandoutNobel
Single missense mutation in the tyrosine kinasecatalytic domain of the RET protooncogene is associated with multiple endocrineneoplasia type 2B.
1994
Involvement of FGF-8 in initiation, outgrowth and patterning of the vertebrate limb
1996
Mice with mutations of Dock7 have generalized hypopigmentation and white-spotting but show normal neurological function
2009 StandoutNobel
Neurotrophins: Roles in Neuronal Development and Function
2001 Standout
Functions of fibroblast growth factors and their receptors
1995
Abnormal bone growth and selective translational regulation in basic fibroblast growth factor (FGF-2) transgenic mice.
1995
Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia.
1996
Regulation of growth region cartilage proliferation and differentiation by perichondrium
1998
PKD2 , a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein
1996 StandoutScience
Gain-of-Function Mutations of c- kit in Human Gastrointestinal Stromal Tumors
1998 StandoutScience
W/kit gene required for interstitial cells of Cajal and for intestinal pacemaker activity
1995 StandoutNature
Parathyroid Hormone Regulates the Expression of Fibroblast Growth Factor-2 mRNA and Fibroblast Growth Factor Receptor mRNA in Osteoblastic Cells
1999
Structures of the Tyrosine Kinase Domain of Fibroblast Growth Factor Receptor in Complex with Inhibitors
1997 Science
Expression of FGFR3 with the G380R Achondroplasia Mutation Inhibits Proliferation and Maturation of CFK2 Chondrocytic Cells
2000
III. Role of the RET signal transduction pathway in development of the mammalian enteric nervous system
1998
Fas Preassociation Required for Apoptosis Signaling and Dominant Inhibition by Pathogenic Mutations
2000 StandoutScienceNobel
Fgfr2 and osteopontin domains in the developing skull vault are mutually exclusive and can be altered by locally applied FGF2
1997
Up-regulation of the chondrogenicSox9gene by fibroblast growth factors is mediated by the mitogen-activated protein kinase pathway
2000
Myofibroblasts. II. Intestinal subepithelial myofibroblasts
1999
Structural Mechanism for STI-571 Inhibition of Abelson Tyrosine Kinase
2000 StandoutScience
Repression of hedgehog signaling and BMP4 expression in growth plate cartilage by fibroblast growth factor receptor 3
1998
Multipotential progenitors of the mammalian enteric nervous system capable of colonising aganglionic bowel in organ culture
1999
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
A mouse model for achondroplasia produced by targeting fibroblast growth factor receptor 3
1999
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
Signalling by the RET receptor tyrosine kinase and its role in the development of the mammalian enteric nervous system
1999
The Molecular Biology of Axon Guidance
1996 StandoutScience
Human Homolog of patched , a Candidate Gene for the Basal Cell Nevus Syndrome
1996 StandoutScience
Uncompensated polyuria in a mouse model of Bartter's syndrome
2000 StandoutNobel
STAT1 mediates the increased apoptosis and reduced chondrocyte proliferation in mice overexpressing FGF2
2001
A translocation at 12q2 refines the interval containing the Holt-Oram syndrome 1 gene.
1996
Regulation of Rate of Cartilage Differentiation by Indian Hedgehog and PTH-Related Protein
1996 StandoutScience
Common origin and developmental dependence on c-ret of subsets of enteric and sympathetic neuroblasts
1996
The Structure of Haplotype Blocks in the Human Genome
2002 StandoutScience
Mutations in the Extracellular Domain Cause RET Loss of Function by a Dominant Negative Mechanism
1998
The Human Genome Project: Reaching the Finish Line
1998 StandoutScienceNobel
The Transmembrane Mutation G380R in Fibroblast Growth Factor Receptor 3 Uncouples Ligand-Mediated Receptor Activation from Down-Regulation
2000
Fgfr1 and Fgfr2 have distinct differentiation- and proliferation-related roles in the developing mouse skull vault
1999
Involvement of FGF8 in initiation, outgrowth and patterning of the vertebrate limb
1996
Works of Anna Pelet being referenced
Fatal hyperammonemia resulting from a C-to-T mutation at a MspI site of the ornithine transcarbamylase gene
1991
A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10
1993
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease
1995
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia
1994 Nature
Segregation at three loci explains familial and population risk in Hirschsprung disease
2002
Mutations of the Fibroblast Growth Factor Receptor-3 Gene in Achondroplasia
1996
Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.
1998
A gene for Holt–Oram syndrome maps to the distal long arm of chromosome 12
1994
Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease
1995
X-linked hydrocephalus: Clinical heterogeneity at a single gene locus
1992
The gene for X-linked hydrocephalus maps to Xq28, distal to DXS52
1992
Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain
2000
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
1996
Mutations of the RET proto-oncogene in Hirschsprung's disease
1994 Nature
A gene for achondroplasia–hypochondroplasia maps to chromosome 4p
1994
Site specific screening for point mutations in ornithine transcarbamylase deficiency.
1992
A human model for multigenic inheritance: Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus
2000
Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.
1994