Published in Eur J Hum Genet on August 16, 2006
An expressed fgf4 retrogene is associated with breed-defining chondrodysplasia in domestic dogs. Science (2009) 3.29
Targeting mutant fibroblast growth factor receptors in cancer. Trends Mol Med (2011) 1.51
Genetic architecture of body size in mammals. Genome Biol (2012) 1.03
N-Glycosylation regulates fibroblast growth factor receptor/EGL-15 activity in Caenorhabditis elegans in vivo. J Biol Chem (2009) 0.92
Non-invasive prenatal diagnosis of achondroplasia and thanatophoric dysplasia: next-generation sequencing allows for a safer, more accurate, and comprehensive approach. Prenat Diagn (2015) 0.89
Fibroblast growth factor (FGF) signaling in development and skeletal diseases. Genes Dis (2014) 0.85
FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. Mol Genet Genomic Med (2014) 0.84
Achondroplasia: Development, Pathogenesis, and Therapy. Dev Dyn (2016) 0.83
Fibroblast growth factor receptor signaling in hereditary and neoplastic disease: biologic and clinical implications. Cancer Metastasis Rev (2015) 0.81
Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al. Eur J Hum Genet (2007) 0.75
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met. Skeletal Radiol (2014) 0.75
Acanthosis nigricans in a Japanese boy with hypochondroplasia due to a K650T mutation in FGFR3. Clin Pediatr Endocrinol (2017) 0.75
The NIH Human Microbiome Project. Genome Res (2009) 24.61
Lamin a truncation in Hutchinson-Gilford progeria. Science (2003) 8.01
Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A (2011) 4.27
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. J Exp Med (2008) 3.85
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet (2010) 3.82
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am J Hum Genet (2007) 3.42
Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood (2011) 3.16
Fibrodysplasia ossificans progressiva. Best Pract Res Clin Rheumatol (2008) 2.64
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome. Nat Genet (2005) 2.64
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. Nat Genet (2011) 2.61
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome. Nat Genet (2011) 2.52
Ellis-van Creveld syndrome. Orphanet J Rare Dis (2007) 2.38
Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet (2006) 2.31
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet (2004) 2.22
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet (2011) 2.16
Identification of mutations in CUL7 in 3-M syndrome. Nat Genet (2005) 2.10
DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. Am J Hum Genet (2009) 2.03
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6. Am J Hum Genet (2011) 2.02
TRPM5 is a transient Ca2+-activated cation channel responding to rapid changes in [Ca2+]i. Proc Natl Acad Sci U S A (2003) 2.01
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet (2004) 1.94
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Hum Mutat (2007) 1.93
Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat (2010) 1.88
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nat Genet (2011) 1.84
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. Am J Med Genet A (2003) 1.79
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet (2008) 1.78
Hereditary multiple exostoses and enchondromatosis. Best Pract Res Clin Rheumatol (2008) 1.76
Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nat Genet (2011) 1.74
Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders. Eur J Hum Genet (2002) 1.72
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet (2012) 1.70
Mutations in FAM111B cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis. Am J Hum Genet (2013) 1.70
Pediatric palliative care provision around the world: a systematic review. Pediatr Blood Cancer (2011) 1.68
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
Hospice and palliative care development in India: a multimethod review of services and experiences. J Pain Symptom Manage (2008) 1.65
Glucagon-like peptide 1/glucagon receptor dual agonism reverses obesity in mice. Diabetes (2009) 1.65
Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor. Proc Natl Acad Sci U S A (2005) 1.65
Clinical and molecular variability in congenital dyserythropoietic anaemia type I. Br J Haematol (2005) 1.62
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat Genet (2011) 1.62
A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A (2015) 1.60
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome. J Med Genet (2011) 1.58
Efficacy and safety of growth hormone treatment in children with hypochondroplasia: comparison with an historical cohort. Horm Res Paediatr (2014) 1.57
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet (2011) 1.55
Mitochondrial DNA depletion is a prevalent cause of multiple respiratory chain deficiency in childhood. J Pediatr (2007) 1.54
Funding for palliative care programs in developing countries. J Pain Symptom Manage (2007) 1.51
Of mice and models: improved animal models for biomedical research. Physiol Genomics (2002) 1.49
3q26.33-3q27.2 microdeletion: a new microdeletion syndrome? Eur J Med Genet (2013) 1.49
Delayed bone age due to a dual effect of FGFR3 mutation in Achondroplasia. Bone (2010) 1.46
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. Nat Genet (2011) 1.46
Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance. Am J Med Genet (2002) 1.45
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet (2004) 1.45
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. Nat Genet (2008) 1.45
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet (2004) 1.45
Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks. Am J Med Genet A (2010) 1.43
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Am J Hum Genet (2005) 1.43
Should chromosome breakage studies be performed in patients with VACTERL association? Am J Med Genet A (2005) 1.42
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mutat (2011) 1.42
Chondrocytes play a major role in the stimulation of bone growth by thyroid hormone. Endocrinology (2014) 1.41
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. Am J Hum Genet (2005) 1.40
Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet (2013) 1.39
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. Am J Hum Genet (2012) 1.39
Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am J Hum Genet (2012) 1.38
Hospice and palliative care development in Africa: a multi-method review of services and experiences. J Pain Symptom Manage (2007) 1.37
Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. Am J Hum Genet (2012) 1.36
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. Am J Hum Genet (2013) 1.33
Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. Am J Hum Genet (2002) 1.32
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations. Am J Med Genet A (2010) 1.30
TCTN3 mutations cause Mohr-Majewski syndrome. Am J Hum Genet (2012) 1.29
The international observatory on end of life care: a global view of palliative care development. J Pain Symptom Manage (2007) 1.29
Cantú syndrome is caused by mutations in ABCC9. Am J Hum Genet (2012) 1.28
Antenatal manifestations of mitochondrial respiratory chain deficiency. J Pediatr (2003) 1.25
C5orf42 is the major gene responsible for OFD syndrome type VI. Hum Genet (2013) 1.24
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals. Am J Med Genet C Semin Med Genet (2012) 1.23
Hyperphosphatasia with seizures, neurologic deficit, and characteristic facial features: Five new patients with Mabry syndrome. Am J Med Genet A (2010) 1.21
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. Circulation (2009) 1.21
Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. Eur J Hum Genet (2006) 1.20
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. Am J Med Genet A (2010) 1.20
A rapid microarray based whole genome analysis for detection of uniparental disomy. Hum Mutat (2005) 1.19
Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. Hum Mol Genet (2005) 1.19
Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence. Hum Mutat (2008) 1.19
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. Eur J Hum Genet (2008) 1.19