Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B.

Arthrogryposis: a review and update. J Bone Joint Surg Am (2009) 2.04

Update on clubfoot: etiology and treatment. Clin Orthop Relat Res (2009) 1.49

Blood pressure loci identified with a gene-centric array. Am J Hum Genet (2011) 1.44

Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2. PLoS One (2015) 1.40

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Hum Mol Genet (2010) 1.32

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. Am J Hum Genet (2015) 1.17

Defective regulation of contractile function in muscle fibres carrying an E41K beta-tropomyosin mutation. J Physiol (2008) 1.11

Effects of a R133W beta-tropomyosin mutation on regulation of muscle contraction in single human muscle fibres. J Physiol (2007) 1.08

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

Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients. Hum Mol Genet (2013) 1.03

A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression. Hum Genet (2006) 0.99

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

Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot. Clin Orthop Relat Res (2009) 0.93

Sheldon-Hall syndrome. Orphanet J Rare Dis (2009) 0.90

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin. J Clin Invest (2016) 0.89

MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis. Hum Mol Genet (2013) 0.88

Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot. Am J Med Genet A (2011) 0.85

AMC: amyoplasia and distal arthrogryposis. J Child Orthop (2015) 0.85

Expression profiles of muscle disease-associated genes and their isoforms during differentiation of cultured human skeletal muscle cells. BMC Musculoskelet Disord (2012) 0.83

A new distal arthrogryposis syndrome characterized by plantar flexion contractures. Am J Med Genet A (2006) 0.83

Linkage mapping of the locus for inherited ovine arthrogryposis (IOA) to sheep chromosome 5. Mamm Genome (2007) 0.81

DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins. PLoS One (2015) 0.78

Troponin T3 expression in skeletal and smooth muscle is required for growth and postnatal survival: characterization of Tnnt3(tm2a(KOMP)Wtsi) mice. Genesis (2013) 0.78

Thick and thin filament gene mutations in striated muscle diseases. Int J Mol Sci (2008) 0.76

Arthrogryposis multiplex congenital (AMC) in a three year old boy: differential diagnosis with distal arthrogryposis: a case report. Cases J (2009) 0.75

Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation. Hum Genome Var (2016) 0.75

Exome Sequencing Identifies a Dominant TNNT3 Mutation in a Large Family with Distal Arthrogryposis. Mol Syndromol (2014) 0.75

First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome. J Korean Med Sci (2013) 0.75

Over-Expression of miRNA-9 Generates Muscle Hypercontraction Through Translational Repression of the Troponin-T in Drosophila Indirect Flight Muscles. G3 (Bethesda) (2017) 0.75

Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy. N Engl J Med (1995) 4.37

Striated muscle cytoarchitecture: an intricate web of form and function. Annu Rev Cell Dev Biol (2002) 3.66

A revised and extended classification of the distal arthrogryposes. Am J Med Genet (1996) 2.30

Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet (2003) 2.11

Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region. Biophys J (2001) 1.77

Folding and function of the troponin tail domain. Effects of cardiomyopathic troponin T mutations. J Biol Chem (2002) 1.28

A variant of Freeman-Sheldon syndrome maps to 11p15.5-pter. Am J Hum Genet (1997) 1.26

A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy. Heart (1999) 1.14

Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96

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

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

Somatic mutations in cerebral cortical malformations. N Engl J Med (2014) 3.13

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

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

Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet (2003) 2.11

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

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

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

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

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

The structure of common genetic variation in United States populations. Am J Hum Genet (2007) 1.35

Genome-wide analysis of the human Alu Yb-lineage. Hum Genomics (2004) 1.33

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

Fine-scale patterns of population stratification confound rare variant association tests. PLoS One (2013) 1.18

Bone mineral density in children and adolescents with neurofibromatosis type 1. J Pediatr (2007) 1.17

LINE-1 preTa elements in the human genome. J Mol Biol (2003) 1.16

HapMap tagSNP transferability in multiple populations: general guidelines. Genomics (2008) 1.16

Variation in the human TAS1R taste receptor genes. Chem Senses (2006) 1.14

Case-control study of self reported genitourinary infections and risk of gastroschisis: findings from the national birth defects prevention study, 1997-2003. BMJ (2008) 1.13

Genetic diversity in India and the inference of Eurasian population expansion. Genome Biol (2010) 1.13

Alu repeats increase local recombination rates. BMC Genomics (2009) 1.11

An infant with primary tooth loss and palmar hyperkeratosis: a novel mutation in the NTRK1 gene causing congenital insensitivity to pain with anhidrosis. Pediatrics (2003) 1.10

Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: implications for critical region designation. Am J Med Genet A (2007) 1.10

Contrasting effects of natural selection on human and chimpanzee CC chemokine receptor 5. Am J Hum Genet (2004) 1.10

Directional migration in the Hindu castes: inferences from mitochondrial, autosomal and Y-chromosomal data. Hum Genet (2004) 1.09

Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8. Am J Med Genet A (2006) 1.08

Following the LINEs: an analysis of primate genomic variation at human-specific LINE-1 insertion sites. Mol Biol Evol (2003) 1.08

Affinities among Melanesians, Micronesians, and Polynesians: a neutral biparental genetic perspective. Hum Biol (2002) 1.07

Comprehensive analysis of two Alu Yd subfamilies. J Mol Evol (2003) 1.06

Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. Am J Med Genet A (2013) 1.06