Published in Am J Hum Genet on March 01, 2003
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Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. Am J Hum Genet (2003) 1.52
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Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. Am J Med Genet A (2013) 1.06
Mutations in ECEL1 cause distal arthrogryposis type 5D. Am J Hum Genet (2012) 1.04
Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1. J Bone Joint Surg Am (2011) 1.03
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A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression. Hum Genet (2006) 0.99
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The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle. Hum Mol Genet (2015) 0.96
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Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot. Am J Med Genet A (2011) 0.85
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A new distal arthrogryposis syndrome characterized by plantar flexion contractures. Am J Med Genet A (2006) 0.83
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Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation. Hum Genome Var (2016) 0.75
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First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome. J Korean Med Sci (2013) 0.75
The diagnosis of art: arthrogryposis and Ribera's The Clubfoot. J R Soc Med (2006) 0.75
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Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy. Neuromuscul Disord (2002) 1.89
A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet (2000) 1.84
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Crystal structure of tropomyosin at 7 Angstroms resolution. Proteins (2000) 1.76
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A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter. Am J Hum Genet (1997) 1.26
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Mutations affecting the indirect flight muscles of Drosophila melanogaster. J Embryol Exp Morphol (1982) 1.24
A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9. Am J Hum Genet (1994) 1.24
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Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B). Am J Med Genet (1998) 1.20
Abnormal muscle development in the heldup3 mutant of Drosophila melanogaster is caused by a splicing defect affecting selected troponin I isoforms. Mol Cell Biol (1993) 1.07
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Dominant distal arthrogryposis in a Maori family with marked variability of expression. Am J Med Genet (1995) 0.96
A tropomyosin-2 mutation suppresses a troponin I myopathy in Drosophila. Mol Biol Cell (2001) 0.94
Structural characterization of the human fast skeletal muscle troponin I gene (TNNI2). Gene (2000) 0.93
Two mutations in troponin I that cause hypertrophic cardiomyopathy have contrasting effects on cardiac muscle contractility. Biochem J (2002) 0.91
Calcium- and magnesium-dependent interactions between the C-terminus of troponin I and the N-terminal, regulatory domain of troponin C. Arch Biochem Biophys (2001) 0.84
Troponin I inhibits capillary endothelial cell proliferation by interaction with the cell's bFGF receptor. Microvasc Res (2002) 0.83
Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science (2010) 18.45
Mobile elements create structural variation: analysis of a complete human genome. Genome Res (2009) 7.06
Genetic evidence for high-altitude adaptation in Tibet. Science (2010) 5.37
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet (2004) 5.19
Human population genetic structure and inference of group membership. Am J Hum Genet (2003) 4.73
X-ray structures of the hexameric building block of the HIV capsid. Cell (2009) 4.08
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet (2006) 3.94
Large-scale SNP analysis reveals clustered and continuous patterns of human genetic variation. Hum Genomics (2005) 3.77
Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am J Hum Genet (2011) 3.43
A probabilistic disease-gene finder for personal genomes. Genome Res (2011) 3.23
A comprehensive map of mobile element insertion polymorphisms in humans. PLoS Genet (2011) 3.14
The 1.9 A structure of a proteasome-11S activator complex and implications for proteasome-PAN/PA700 interactions. Mol Cell (2005) 2.68
Structural and mechanistic studies of VPS4 proteins. EMBO J (2005) 2.58
Contrasting patterns of Y chromosome and mtDNA variation in Africa: evidence for sex-biased demographic processes. Eur J Hum Genet (2005) 2.51
Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome. J Allergy Clin Immunol (2008) 2.50
Genetic variation among world populations: inferences from 100 Alu insertion polymorphisms. Genome Res (2003) 2.47
A comprehensive analysis of recently integrated human Ta L1 elements. Am J Hum Genet (2002) 2.47
Elements of morphology: introduction. Am J Med Genet A (2009) 2.39
UNC119 is required for G protein trafficking in sensory neurons. Nat Neurosci (2011) 2.38
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet (2012) 2.34
Natural selection and molecular evolution in PTC, a bitter-taste receptor gene. Am J Hum Genet (2004) 2.33
A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis. Nat Genet (2003) 2.29
Microsatellites as EWS/FLI response elements in Ewing's sarcoma. Proc Natl Acad Sci U S A (2008) 2.06
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features. Eur J Paediatr Neurol (2013) 1.94
ALIX-CHMP4 interactions in the human ESCRT pathway. Proc Natl Acad Sci U S A (2008) 1.91
Maximum-likelihood estimation of recent shared ancestry (ERSA). Genome Res (2011) 1.88
Clinical characteristics and natural history of Freeman-Sheldon syndrome. Pediatrics (2006) 1.82
Alu elements and hominid phylogenetics. Proc Natl Acad Sci U S A (2003) 1.81
Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. Pediatrics (2008) 1.80
A strong signature of balancing selection in the 5' cis-regulatory region of CCR5. Proc Natl Acad Sci U S A (2002) 1.78
Ancestry and disease in the age of genomic medicine. N Engl J Med (2010) 1.71
Promoter polymorphism of the erythropoietin gene in severe diabetic eye and kidney complications. Proc Natl Acad Sci U S A (2008) 1.70
Mobile element scanning (ME-Scan) identifies thousands of novel Alu insertions in diverse human populations. Genome Res (2013) 1.66
4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype. J Pediatr (2004) 1.63
Larger genetic differences within africans than between Africans and Eurasians. Genetics (2002) 1.62
Spectrum of epilepsy and electroencephalogram patterns in Wolf-Hirschhorn syndrome: experience with 87 patients. Dev Med Child Neurol (2009) 1.62
Natural selection and population history in the human angiotensinogen gene (AGT): 736 complete AGT sequences in chromosomes from around the world. Am J Hum Genet (2004) 1.61
Motor proficiency in children with neurofibromatosis type 1. Pediatr Phys Ther (2010) 1.61
A method for detecting recent selection in the human genome from allele age estimates. Genetics (2003) 1.55
Mobile element scanning (ME-Scan) by targeted high-throughput sequencing. BMC Genomics (2010) 1.54
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. Am J Hum Genet (2003) 1.52
The trisomy 18 syndrome. Orphanet J Rare Dis (2012) 1.52
Development of gastroschisis: review of hypotheses, a novel hypothesis, and implications for research. Am J Med Genet A (2007) 1.51
The pore of activated 20S proteasomes has an ordered 7-fold symmetric conformation. EMBO J (2003) 1.50
Worldwide haplotype diversity and coding sequence variation at human bitter taste receptor loci. Hum Mutat (2005) 1.50
Fine-scaled human genetic structure revealed by SNP microarrays. Genome Res (2009) 1.48
Toward a more uniform sampling of human genetic diversity: a survey of worldwide populations by high-density genotyping. Genomics (2010) 1.47
A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. Am J Med Genet A (2010) 1.46
Recently integrated Alu elements and human genomic diversity. Mol Biol Evol (2003) 1.46
Balinese Y-chromosome perspective on the peopling of Indonesia: genetic contributions from pre-neolithic hunter-gatherers, Austronesian farmers, and Indian traders. Hum Biol (2005) 1.45
A novel multiple congenital anomaly-mental retardation syndrome with Pierre Robin sequence and cerebellar hypoplasia in two sisters. Am J Med Genet A (2007) 1.44
AGT genetic variation, plasma AGT, and blood pressure: An analysis of the Utah Genetic Reference Project pedigrees. Am J Hypertens (2010) 1.43
Nucleotide diversity and haplotype structure of the human angiotensinogen gene in two populations. Am J Hum Genet (2001) 1.43
Insights into the demographic history of African Pygmies from complete mitochondrial genomes. Mol Biol Evol (2010) 1.43
Gene flow from the Indian subcontinent to Australia: evidence from the Y chromosome. Curr Biol (2002) 1.43
Familial congenital non-immune hydrops, chylothorax, and pulmonary lymphangiectasia. Am J Med Genet A (2006) 1.41
Structural basis for ubiquitin recognition by the human ESCRT-II EAP45 GLUE domain. Nat Struct Mol Biol (2006) 1.41
Mobile DNA elements in primate and human evolution. Am J Phys Anthropol (2007) 1.38
Why is the construction: Hypoplastic left heart "syndrome" a misnomer? And: What is a syndrome, anyhow? Am J Med Genet A (2011) 1.38
Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back. Am J Med Genet A (2010) 1.36
Structure of a Blm10 complex reveals common mechanisms for proteasome binding and gate opening. Mol Cell (2010) 1.36
A general mechanism for transcription regulation by Oct1 and Oct4 in response to genotoxic and oxidative stress. Genes Dev (2009) 1.33
Genome-wide analysis of the human Alu Yb-lineage. Hum Genomics (2004) 1.33
Design of a potent D-peptide HIV-1 entry inhibitor with a strong barrier to resistance. J Virol (2010) 1.33
Structural basis for tetrapyrrole coordination by uroporphyrinogen decarboxylase. EMBO J (2003) 1.31
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. Am J Hum Genet (2006) 1.31
Common variants on chromosome 2 and risk of primary open-angle glaucoma in the Afro-Caribbean population of Barbados. Proc Natl Acad Sci U S A (2009) 1.30
Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision. Am J Med Genet C Semin Med Genet (2008) 1.27
Diagnostic evaluation of developmental delay/mental retardation: An overview. Am J Med Genet C Semin Med Genet (2003) 1.27
Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype. Am J Hum Genet (2003) 1.26
Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith-Lemli-Opitz syndrome fibroblasts. Mol Genet Metab (2005) 1.24
Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency. Am J Hum Genet (2013) 1.23
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort. Genet Med (2007) 1.23
Host genetic risk factors for West Nile virus infection and disease progression. PLoS One (2011) 1.22
Double inactivation of NF1 in tibial pseudarthrosis. Am J Hum Genet (2006) 1.21
Genetic determinants of Tibetan high-altitude adaptation. Hum Genet (2011) 1.21
Fine-grained facial phenotype-genotype analysis in Wolf-Hirschhorn syndrome. Eur J Hum Genet (2011) 1.20
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload. Am J Med Genet A (2013) 1.20
Variants in TNFAIP3, STAT4, and C12orf30 loci associated with multiple autoimmune diseases are also associated with juvenile idiopathic arthritis. Arthritis Rheum (2009) 1.20
Multiple increased osteoclast functions in individuals with neurofibromatosis type 1. Am J Med Genet A (2011) 1.18
Bone mineral density in children and adolescents with neurofibromatosis type 1. J Pediatr (2007) 1.17
Structural models for interactions between the 20S proteasome and its PAN/19S activators. J Biol Chem (2009) 1.17
LINE-1 preTa elements in the human genome. J Mol Biol (2003) 1.16
Design and characterization of ebolavirus GP prehairpin intermediate mimics as drug targets. Protein Sci (2014) 1.16
HapMap tagSNP transferability in multiple populations: general guidelines. Genomics (2008) 1.16
Biochemical and structural studies of yeast Vps4 oligomerization. J Mol Biol (2008) 1.15
Variation in the human TAS1R taste receptor genes. Chem Senses (2006) 1.14