Published in PLoS Genet on April 14, 2011
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am J Hum Genet (2012) 3.13
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nat Genet (2011) 2.74
Ptpn11 deletion in a novel progenitor causes metachondromatosis by inducing hedgehog signalling. Nature (2013) 1.33
Efficient mapping and cloning of mutations in zebrafish by low-coverage whole-genome sequencing. Genetics (2011) 1.23
Prioritization of neurodevelopmental disease genes by discovery of new mutations. Nat Neurosci (2014) 1.21
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. Am J Hum Genet (2011) 1.02
FGFR3 Deficiency Causes Multiple Chondroma-like Lesions by Upregulating Hedgehog Signaling. PLoS Genet (2015) 0.99
SHP2 regulates chondrocyte terminal differentiation, growth plate architecture and skeletal cell fates. PLoS Genet (2014) 0.90
Targeted disruption of Shp2 in chondrocytes leads to metachondromatosis with multiple cartilaginous protrusions. J Bone Miner Res (2014) 0.87
Genetic alterations of protein tyrosine phosphatases in human cancers. Oncogene (2014) 0.86
Unique mutation portraits and frequent COL2A1 gene alteration in chondrosarcoma. Genome Res (2014) 0.85
A somatic MAP3K3 mutation is associated with verrucous venous malformation. Am J Hum Genet (2015) 0.85
ERK1 and ERK2 regulate chondrocyte terminal differentiation during endochondral bone formation. J Bone Miner Res (2015) 0.84
Deletion of SHP-2 in mesenchymal stem cells causes growth retardation, limb and chest deformity, and calvarial defects in mice. Dis Model Mech (2013) 0.83
SHP2 positively regulates TGFβ1-induced epithelial-mesenchymal transition modulated by its novel interacting protein Hook1. J Biol Chem (2014) 0.82
Metachondromatosis: more than just multiple osteochondromas. J Child Orthop (2013) 0.79
Common somatic alterations identified in maffucci syndrome by molecular karyotyping. Mol Syndromol (2014) 0.78
Cell biology: tumour stem cells in bone. Nature (2013) 0.78
Presphenoidal synchondrosis fusion in DBA/2J mice. Mamm Genome (2012) 0.77
Parallelism and Epistasis in Skeletal Evolution Identified through Use of Phylogenomic Mapping Strategies. Mol Biol Evol (2015) 0.75
From an orphan disease to a generalized molecular mechanism: PTPN11 loss-of-function mutations in the pathogenesis of metachondromatosis. Rare Dis (2013) 0.75
Osteochondroma and Spinal Cord Compression in a Patient With Hereditary Multiple Exostoses: A Case Report. J Chiropr Med (2016) 0.75
Shp2 Inhibits Proliferation of Esophageal Squamous Cell Cancer via Dephosphorylation of Stat3. Int J Mol Sci (2017) 0.75
SHP2 Regulates the Osteogenic Fate of Growth Plate Hypertrophic Chondrocytes. Sci Rep (2017) 0.75
Merlin--rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet (2001) 53.16
Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science (2010) 18.45
Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N Engl J Med (2010) 13.57
Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene. PLoS Genet (2010) 4.29
Abnormal mesoderm patterning in mouse embryos mutant for the SH2 tyrosine phosphatase Shp-2. EMBO J (1997) 3.27
PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects. J Biol Chem (2005) 2.68
Multiple osteochondromas. Orphanet J Rare Dis (2008) 2.61
Ollier disease. Orphanet J Rare Dis (2006) 2.11
EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas. Am J Hum Genet (1999) 1.70
Enchondromatosis: insights on the different subtypes. Int J Clin Exp Pathol (2010) 1.67
The tyrosine phosphatase Shp2 in development and cancer. Adv Cancer Res (2010) 1.58
A mouse model of osteochondromagenesis from clonal inactivation of Ext1 in chondrocytes. Proc Natl Acad Sci U S A (2009) 1.47
Noonan syndrome and related disorders: a review of clinical features and mutations in genes of the RAS/MAPK pathway. Horm Res (2009) 1.34
[Metachondromatosis]. Z Kinderheilkd (1971) 1.26
EXT-related pathways are not involved in the pathogenesis of dysplasia epiphysealis hemimelica and metachondromatosis. J Pathol (2006) 1.20
PTHR1 mutations associated with Ollier disease result in receptor loss of function. Hum Mol Genet (2008) 1.20
The tyrosine phosphatase Shp2 (PTPN11) directs Neuregulin-1/ErbB signaling throughout Schwann cell development. Proc Natl Acad Sci U S A (2009) 1.19
Metachondromatosis. Radiology (1983) 1.13
Metachondromatosis. Report of four cases. J Bone Joint Surg Am (1985) 1.07
Development of severe skeletal defects in induced SHP-2-deficient adult mice: a model of skeletal malformation in humans with SHP-2 mutations. Dis Model Mech (2010) 1.04
Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations. Genes Chromosomes Cancer (2010) 0.89
Avascular necrosis of the capital femoral epiphysis in metachondromatosis. J Pediatr Orthop (1990) 0.84
Metachondromatosis: report of a family with facial features mildly resembling trichorhinophalangeal syndromePediatr Radiol 1997 Nov;27(11):864. Pediatr Radiol (1997) 0.84
Chondrosarcoma in metachondromatosis: a case report. J Bone Joint Surg Am (2010) 0.82
Metachondromatosis: a report of two cases in a family. Nihon Seikeigeka Gakkai Zasshi (1992) 0.82
Metachondromatosis and avascular necrosis of the femoral head: a radiographic and histologic correlation. J Pediatr Orthop (1991) 0.82
Resolving neonatal osteochondroma: a case report and literature review. Am J Orthop (Belle Mead NJ) (1996) 0.81
Metachondromatosis. Can Assoc Radiol J (1995) 0.81
Medicine. Reestablishing the researcher-patient compact. Science (2007) 5.64
Lrp5 functions in bone to regulate bone mass. Nat Med (2011) 5.33
DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis. Nat Genet (2006) 4.49
Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. Nat Genet (2003) 4.34
A functional polymorphism in the 5' UTR of GDF5 is associated with susceptibility to osteoarthritis. Nat Genet (2007) 4.31
Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A (2011) 4.27
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet (2004) 4.09
Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma. Nat Med (2008) 3.98
Chromosome instability is common in human cleavage-stage embryos. Nat Med (2009) 3.85
Osteopetrosis. Orphanet J Rare Dis (2009) 3.69
The secreted glycoprotein lubricin protects cartilage surfaces and inhibits synovial cell overgrowth. J Clin Invest (2005) 3.56
Recommendations for returning genomic incidental findings? We need to talk! Genet Med (2013) 3.23
Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am J Hum Genet (2012) 3.13
The Wnt co-receptor LRP5 is essential for skeletal mechanotransduction but not for the anabolic bone response to parathyroid hormone treatment. J Biol Chem (2006) 3.04
An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis. Nat Genet (2005) 3.00
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet (2004) 2.94
Clinical genetic testing for patients with autism spectrum disorders. Pediatrics (2010) 2.87
Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. Am J Hum Genet (2003) 2.86
Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nat Genet (2011) 2.74
Lrp5-independent activation of Wnt signaling by lithium chloride increases bone formation and bone mass in mice. Proc Natl Acad Sci U S A (2005) 2.67
Association between friction and wear in diarthrodial joints lacking lubricin. Arthritis Rheum (2007) 2.56
Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet (2003) 2.56
Large-scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand. Arthritis Rheum (2009) 2.47
Decreased BMD and limb deformities in mice carrying mutations in both Lrp5 and Lrp6. J Bone Miner Res (2004) 2.46
Identification of a novel non-coding RNA, MIAT, that confers risk of myocardial infarction. J Hum Genet (2006) 2.41
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet (2010) 2.39
Signalling mediated by the endoplasmic reticulum stress transducer OASIS is involved in bone formation. Nat Cell Biol (2009) 2.38
A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility. Nat Genet (2010) 2.34
Association of localized intravascular coagulopathy with venous malformations. Arch Dermatol (2008) 2.31
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia. Nat Genet (2008) 2.24
A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. Proc Natl Acad Sci U S A (2004) 2.19
Intramuscular capillary-type hemangioma: radiologic-pathologic correlation. Pediatr Radiol (2014) 2.16
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet (2011) 2.16
Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease. N Engl J Med (2016) 2.15
Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. Am J Hum Genet (2003) 2.10
RASA1: variable phenotype with capillary and arteriovenous malformations. Curr Opin Genet Dev (2005) 2.10
Identification of mutations in CUL7 in 3-M syndrome. Nat Genet (2005) 2.10
The combination of SOX5, SOX6, and SOX9 (the SOX trio) provides signals sufficient for induction of permanent cartilage. Arthritis Rheum (2004) 2.08
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia. Am J Hum Genet (2009) 2.02
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations. Hum Mutat (2008) 2.00
A clinician's guide to X-linked hypophosphatemia. J Bone Miner Res (2011) 2.00
Reduced affinity to and inhibition by DKK1 form a common mechanism by which high bone mass-associated missense mutations in LRP5 affect canonical Wnt signaling. Mol Cell Biol (2005) 2.00
Somatic mutations in angiopoietin receptor gene TEK cause solitary and multiple sporadic venous malformations. Nat Genet (2008) 1.95
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95
Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses. Hum Mutat (2004) 1.94
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis. Am J Hum Genet (2003) 1.94
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Am J Hum Genet (2012) 1.93
Elements of morphology: standard terminology for the nose and philtrum. Am J Med Genet A (2009) 1.93
A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5' UTR of GDF5 with osteoarthritis susceptibility. Hum Mol Genet (2008) 1.91
Sclerostin inhibition reverses skeletal fragility in an Lrp5-deficient mouse model of OPPG syndrome. Sci Transl Med (2013) 1.90
Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis. Nat Genet (2013) 1.90
Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet (2009) 1.89
Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature. J Clin Endocrinol Metab (2005) 1.87
A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis. Nat Genet (2011) 1.86
The phenotypic spectrum of COL2A1 mutations. Hum Mutat (2005) 1.85
Loss-of-function mutations of CHST14 in a new type of Ehlers-Danlos syndrome. Hum Mutat (2010) 1.83
Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. Nat Genet (2012) 1.82
Lethal skeletal dysplasia in mice and humans lacking the golgin GMAP-210. N Engl J Med (2010) 1.81
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet (2003) 1.79
The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways. PLoS One (2008) 1.76
Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22. Ann Rheum Dis (2010) 1.75
Gamma-actin is required for cytoskeletal maintenance but not development. Proc Natl Acad Sci U S A (2009) 1.74
A functional SNP in PSMA6 confers risk of myocardial infarction in the Japanese population. Nat Genet (2006) 1.73
Glomuvenous malformation (glomangioma) and venous malformation: distinct clinicopathologic and genetic entities. Arch Dermatol (2004) 1.73
Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease. Hum Mol Genet (2002) 1.72
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet (2012) 1.70
Clinical phenotypes associated with type II collagen mutations. J Paediatr Child Health (2011) 1.70
A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. Am J Hum Genet (2012) 1.70
Genetic causes of vascular malformations. Hum Mol Genet (2007) 1.69
A functional SNP in CILP, encoding cartilage intermediate layer protein, is associated with susceptibility to lumbar disc disease. Nat Genet (2005) 1.69
Regulation of endoplasmic reticulum stress response by a BBF2H7-mediated Sec23a pathway is essential for chondrogenesis. Nat Cell Biol (2009) 1.69
Retracted Effect of perindopril on large artery stiffness and aortic root diameter in patients with Marfan syndrome: a randomized controlled trial. JAMA (2007) 1.69
TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome. Am J Hum Genet (2008) 1.68
A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis. Am J Hum Genet (2005) 1.67
Inhibition of beta-catenin signaling causes defects in postnatal cartilage development. J Cell Sci (2008) 1.67
A functional single nucleotide polymorphism in the core promoter region of CALM1 is associated with hip osteoarthritis in Japanese. Hum Mol Genet (2005) 1.67
Mutations in a novel factor, glomulin, are responsible for glomuvenous malformations ("glomangiomas"). Am J Hum Genet (2002) 1.66
Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2. Am J Med Genet A (2004) 1.66
Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis. Am J Hum Genet (2011) 1.66
Premature arthritis is a distinct type II collagen phenotype. Arthritis Rheum (2010) 1.66
Kaposiform hemangioendothelioma: atypical features and risks of Kasabach-Merritt phenomenon in 107 referrals. J Pediatr (2012) 1.63
Interferon regulatory factor-6: a gene predisposing to isolated cleft lip with or without cleft palate in the Belgian population. Eur J Hum Genet (2005) 1.62
Medullary sponge kidney associated with primary distal renal tubular acidosis and mutations of the H+-ATPase genes. Nephrol Dial Transplant (2009) 1.62
Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). Hum Mutat (2009) 1.61