Published in Am J Hum Genet on June 27, 2002
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. J Clin Invest (2005) 1.88
Morpho-regulation of ectodermal organs: integument pathology and phenotypic variations in K14-Noggin engineered mice through modulation of bone morphogenic protein pathway. Am J Pathol (2004) 1.72
GDF6, a novel locus for a spectrum of ocular developmental anomalies. Am J Hum Genet (2006) 1.35
A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. Am J Hum Genet (2007) 1.31
Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature. Eur J Med Genet (2009) 1.26
GDF5 is a second locus for multiple-synostosis syndrome. Am J Hum Genet (2006) 1.24
Association of bone morphogenetic proteins with otosclerosis. J Bone Miner Res (2008) 1.07
Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family. J Clin Endocrinol Metab (2010) 1.00
BMP signalling in skeletal development, disease and repair. Nat Rev Endocrinol (2016) 0.97
Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene. Am J Hum Genet (2009) 0.93
Familial aggregation of hyperopia in an elderly population of siblings in Salisbury, Maryland. Ophthalmology (2005) 0.88
Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis. Clin Genet (2012) 0.88
Role of hindbrain in inner ear morphogenesis: analysis of Noggin knockout mice. Dev Biol (2007) 0.88
A GDF5 point mutation strikes twice--causing BDA1 and SYNS2. PLoS Genet (2013) 0.86
Molecular and clinical delineation of the 17q22 microdeletion phenotype. Eur J Hum Genet (2013) 0.80
Mutational analysis of NOG in esophageal atresia and tracheoesophageal fistula patients. Pediatr Surg Int (2011) 0.76
A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder. Hum Genome Var (2016) 0.75
Temporal Bone Histopathology in NOG-Symphalangism Spectrum Disorder. Otol Neurotol (2015) 0.75
Noggin is required for first pharyngeal arch differentiation in the frog Xenopus tropicalis. Dev Biol (2016) 0.75
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The Spemann organizer signal noggin binds and inactivates bone morphogenetic protein 4. Cell (1996) 5.66
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Noggin, cartilage morphogenesis, and joint formation in the mammalian skeleton. Science (1998) 4.72
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BMP4 is essential for lens induction in the mouse embryo. Genes Dev (1998) 2.62
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Evolution and classification of cystine knot-containing hormones and related extracellular signaling molecules. Mol Endocrinol (2001) 1.70
Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis. Nat Genet (1999) 1.67
Bmp4 mediates apoptotic cell death in the developing chick eye. J Neurosci (2001) 1.38
Mutations of the NOG gene in individuals with proximal symphalangism and multiple synostosis syndrome. Clin Genet (2001) 1.31
Noggin and retinoic acid transform the identity of avian facial prominences. Nature (2002) 1.20
Human disease-causing NOG missense mutations: effects on noggin secretion, dimer formation, and bone morphogenetic protein binding. Proc Natl Acad Sci U S A (2001) 1.14
Developmental expression patterns of bone morphogenetic proteins, receptors, and binding proteins in the chick retina. J Comp Neurol (2001) 1.02
Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism. Hum Mutat (2002) 0.95
Animal-vegetal asymmetries influence the earliest steps in retina fate commitment in Xenopus. Dev Biol (1999) 0.93
An autosomal dominant inherited syndrome with congenital stapes ankylosis. Laryngoscope (1990) 0.91
The autosomal dominant syndrome with congenital stapes ankylosis, broad thumbs and hyperopia. Clin Dysmorphol (1997) 0.81
Congenital stapes ankylosis, broad thumbs, and hyperopia: report of a family and refinement of a syndrome. Am J Med Genet (1999) 0.80
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron (2011) 10.61
Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med (2012) 4.36
Exploring the public understanding of basic genetic concepts. J Genet Couns (2004) 3.53
A multisite study of the clinical diagnosis of different autism spectrum disorders. Arch Gen Psychiatry (2011) 2.99
Clinical genetic testing for patients with autism spectrum disorders. Pediatrics (2010) 2.87
Common genetic variants, acting additively, are a major source of risk for autism. Mol Autism (2012) 2.67
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia. Nat Genet (2002) 2.64
Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration. Hum Mol Genet (2005) 2.32
Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells. Am J Hum Genet (2005) 2.20
Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma. PLoS Genet (2012) 2.00
Validation of US as a first-line diagnostic test for assessment of pediatric ileocolic intussusception. Pediatr Radiol (2009) 1.96
What is appropriate to post on social media? Ratings from students, faculty members and the public. Med Educ (2014) 1.83
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. Am J Med Genet A (2010) 1.82
Frequency and severity of acute allergic-like reactions to gadolinium-containing i.v. contrast media in children and adults. AJR Am J Roentgenol (2007) 1.79
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. Hum Mutat (2003) 1.67
Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. Am J Hum Genet (2008) 1.65
Spontaneous direct carotid-cavernous fistula in Ehlers-Danlos syndrome type IV: two case reports and a review of the literature. J Neuroophthalmol (2002) 1.64
Assessing the need for posterior sclerotomy at the time of filtering surgery in patients with Sturge-Weber syndrome. Ophthalmology (2003) 1.63
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation presenting in childhood. Pediatrics (2007) 1.60
A neuroligin-4 missense mutation associated with autism impairs neuroligin-4 folding and endoplasmic reticulum export. J Neurosci (2009) 1.59
Loss of Chd7 function in gene-trapped reporter mice is embryonic lethal and associated with severe defects in multiple developing tissues. Mamm Genome (2007) 1.58
PITX2, beta-catenin and LEF-1 interact to synergistically regulate the LEF-1 promoter. J Cell Sci (2005) 1.58
Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation. Invest Ophthalmol Vis Sci (2005) 1.57
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. N Engl J Med (2013) 1.56
Characterization of progenitor domains in the developing mouse thalamus. J Comp Neurol (2007) 1.55
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet (2004) 1.50
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. Nat Genet (2013) 1.49
Late migration of a Sideris buttoned device for occlusion of atrial septal defect. Catheter Cardiovasc Interv (2006) 1.41
Delayed iliac artery thrombosis after blunt trauma during operative laparoscopy. J Minim Invasive Gynecol (2008) 1.38
High SEPT9_v1 expression in human breast cancer cells is associated with oncogenic phenotypes. Cancer Res (2007) 1.38
Incidence and management of encapsulated cysts following Ahmed glaucoma valve insertion. J Glaucoma (2005) 1.37
Gene expression profile of human trabecular meshwork cells in response to long-term dexamethasone exposure. Mol Vis (2006) 1.34
Incidence and severity of acute allergic-like reactions to i.v. nonionic iodinated contrast material in children. AJR Am J Roentgenol (2007) 1.32
Cataract surgery in patients with nanophthalmos: results and complications. J Cataract Refract Surg (2004) 1.32
Expanding upon the unilateral hyperlucent hemithorax in children. Radiographics (2011) 1.31
White Americans' Genetic Lay Theories of Race Differences and Sexual Orientation: Their Relationship with Prejudice toward Blacks, and Gay Men and Lesbians. Group Process Intergroup Relat (2006) 1.30
Duplication 16p11.2 in a child with infantile seizure disorder. Am J Med Genet A (2010) 1.30
A palindrome-mediated recurrent translocation with 3:1 meiotic nondisjunction: the t(8;22)(q24.13;q11.21). Am J Hum Genet (2010) 1.30
CTRP5 is a membrane-associated and secretory protein in the RPE and ciliary body and the S163R mutation of CTRP5 impairs its secretion. Invest Ophthalmol Vis Sci (2006) 1.29
Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nat Genet (2002) 1.25
De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism. Biol Psychiatry (2011) 1.25
The ATP-dependent chromatin remodeling enzyme CHD7 regulates pro-neural gene expression and neurogenesis in the inner ear. Development (2010) 1.24
Nestin-Cre mediated deletion of Pitx2 in the mouse. Genesis (2006) 1.18
BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. Hum Genet (2011) 1.18
CT of renal lymphoma in children. AJR Am J Roentgenol (2003) 1.17
Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients. Am J Med Genet A (2007) 1.16
Mammalian septins nomenclature. Mol Biol Cell (2002) 1.16
A de novo balanced translocation breakpoint truncating the autism susceptibility candidate 2 (AUTS2) gene in a patient with autism. Am J Med Genet A (2010) 1.14
A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10. Am J Med Genet A (2004) 1.14
CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesis. Hum Mol Genet (2010) 1.13
Pediatric renal leukemia: spectrum of CT imaging findings. Pediatr Radiol (2008) 1.13
Adjusting head circumference for covariates in autism: clinical correlates of a highly heritable continuous trait. Biol Psychiatry (2013) 1.11
Model-based iterative reconstruction: effect on patient radiation dose and image quality in pediatric body CT. Radiology (2013) 1.10
Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry. Invest Ophthalmol Vis Sci (2013) 1.10
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment. Am J Med Genet A (2011) 1.09
Precise prenatal diagnosis of tuberous sclerosis by sequencing the TSC2 gene. Prenat Diagn (2005) 1.08
Nestin-lineage cells contribute to the microvasculature but not endocrine cells of the islet. Diabetes (2003) 1.08
The NEIGHBOR consortium primary open-angle glaucoma genome-wide association study: rationale, study design, and clinical variables. J Glaucoma (2013) 1.06
Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia. Invest Ophthalmol Vis Sci (2012) 1.06
Updates in the genetic evaluation of the child with global developmental delay or intellectual disability. Semin Pediatr Neurol (2012) 1.06
Defects in vestibular sensory epithelia and innervation in mice with loss of Chd7 function: implications for human CHARGE syndrome. J Comp Neurol (2007) 1.06
Hairy polyp of the pharynx obscured on physical examination by endotracheal tube, but diagnosed on brain imaging. Pediatr Radiol (2005) 1.06
Glaucoma associated with Boston type I keratoprosthesis. Cornea (2012) 1.05
A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells. J Assoc Res Otolaryngol (2004) 1.05
Antiangiogenic therapy for a large splenic hemangioma. Pediatr Surg Int (2005) 1.04
Characterization of a SEPT9 interacting protein, SEPT14, a novel testis-specific septin. Mamm Genome (2007) 1.04
Loss of CHFR in human mammary epithelial cells causes genomic instability by disrupting the mitotic spindle assembly checkpoint. Neoplasia (2008) 1.04
MRI diffusion-weighted imaging (DWI) in pediatric small bowel Crohn disease: correlation with MRI findings of active bowel wall inflammation. Pediatr Radiol (2013) 1.03
Clinical characterization of individuals with deletions of genes in holoprosencephaly pathways by aCGH refines the phenotypic spectrum of HPE. Hum Genet (2010) 1.03
Myo15 function is distinct from Myo6, Myo7a and pirouette genes in development of cochlear stereocilia. Hum Mol Genet (2003) 1.02
Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome. Hum Mol Genet (2011) 1.02
Genetic counseling graduate student debt: impact on program, career and life choices. J Genet Couns (2014) 1.01
Beliefs about the etiology of homosexuality and about the ramifications of discovering its possible genetic origin. J Homosex (2007) 1.00
Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila. Proc Natl Acad Sci U S A (2010) 0.99
Altered expression of the early mitotic checkpoint protein, CHFR, in breast cancers: implications for tumor suppression. Cancer Res (2007) 0.98
Genome-wide association study and meta-analysis of intraocular pressure. Hum Genet (2013) 0.98
Comparison of MR enterography and histopathology in the evaluation of pediatric Crohn disease. Pediatr Radiol (2011) 0.98
Prenatal diagnosis in pregnancies at risk for Joubert syndrome by ultrasound and MRI. Prenat Diagn (2005) 0.98
A critical evaluation of US for the diagnosis of pediatric acute appendicitis in a real-life setting: how can we improve the diagnostic value of sonography? Pediatr Radiol (2012) 0.97
Allergic-like breakthrough reactions to gadolinium contrast agents after corticosteroid and antihistamine premedication. AJR Am J Roentgenol (2008) 0.97
Vertical expandable prosthetic titanium rib device insertion: does it improve pulmonary function? J Pediatr Surg (2011) 0.97
Regulation of spinal interneuron development by the Olig-related protein Bhlhb5 and Notch signaling. Development (2011) 0.97
Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy. Am J Ophthalmol (2003) 0.96
Evidence for the use of nutritional supplements and herbal medicines in common eye diseases. Am J Ophthalmol (2006) 0.95
Protein kinase C phosphorylation modulates N- and C-terminal regulatory activities of the PITX2 homeodomain protein. Biochemistry (2005) 0.95
Mature middle and inner ears express Chd7 and exhibit distinctive pathologies in a mouse model of CHARGE syndrome. Hear Res (2011) 0.95
Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene. Arch Otolaryngol Head Neck Surg (2011) 0.95
CHFR: A Novel Mitotic Checkpoint Protein and Regulator of Tumorigenesis. Transl Oncol (2008) 0.95
Variation in optineurin (OPTN) allele frequencies between and within populations. Mol Vis (2007) 0.94
Up-regulation of SEPT9_v1 stabilizes c-Jun-N-terminal kinase and contributes to its pro-proliferative activity in mammary epithelial cells. Cell Signal (2008) 0.94
GALC deletions increase the risk of primary open-angle glaucoma: the role of Mendelian variants in complex disease. PLoS One (2011) 0.94
The role of steroid hormones in the NF1 phenotype: focus on pregnancy. Am J Med Genet A (2008) 0.94
CT findings and temporal course of persistent pulmonary interstitial emphysema in neonates: a multiinstitutional study. AJR Am J Roentgenol (2003) 0.94
The syndrome of hypoparathyroidism, deafness, and renal anomalies. Endocr Pract (2013) 0.94