Published in Am J Hum Genet on September 26, 2006
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Hearing loss in a mouse model of Muenke syndrome. Hum Mol Genet (2008) 1.07
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A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations. BMC Med Genet (2015) 0.79
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Canine fibroblast growth factor receptor 3 sequence is conserved across dogs of divergent skeletal size. BMC Genet (2008) 0.76
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Mutations in different components of FGF signaling in LADD syndrome. Nat Genet (2006) 1.76
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A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene. Am J Hum Genet (1999) 1.35
A single-base change in the tyrosine kinase II domain of ovine FGFR3 causes hereditary chondrodysplasia in sheep. Anim Genet (2006) 1.12
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The influence of CCL3L1 gene-containing segmental duplications on HIV-1/AIDS susceptibility. Science (2005) 17.00
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet (2010) 12.63
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature (2012) 8.91
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Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies. Am J Hum Genet (2012) 5.48
Genetic evidence for high-altitude adaptation in Tibet. Science (2010) 5.37
ACMG clinical laboratory standards for next-generation sequencing. Genet Med (2013) 5.30
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet (2004) 5.19
NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. Nat Genet (2004) 4.90
Human population genetic structure and inference of group membership. Am J Hum Genet (2003) 4.73
Single-nucleotide evolutionary constraint scores highlight disease-causing mutations. Nat Methods (2010) 4.51
X-ray structures of the hexameric building block of the HIV capsid. Cell (2009) 4.08
Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet (2013) 4.06
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat Genet (2006) 3.94
Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med (2012) 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
Massively parallel sequencing and rare disease. Hum Mol Genet (2010) 3.28
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
Genomics really gets personal: how exome and whole genome sequencing challenge the ethical framework of human genetics research. Am J Med Genet A (2011) 2.93
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet (2012) 2.82
Validation of the 2009 TNM version in a large multi-institutional cohort of patients treated for renal cell carcinoma: are further improvements needed? Eur Urol (2010) 2.82
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
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
Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am J Hum Genet (2005) 2.40
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
Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. Hepatology (2013) 2.32
HIV-1 infection and AIDS dementia are influenced by a mutant MCP-1 allele linked to increased monocyte infiltration of tissues and MCP-1 levels. Proc Natl Acad Sci U S A (2002) 2.31
A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis. Nat Genet (2003) 2.29
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab (2009) 2.25
Molecular characterization of a patient with central nervous system dysmyelination and cryptic unbalanced translocation between chromosomes 4q and 18q. Am J Med Genet A (2003) 2.17
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. Nat Genet (2012) 2.14
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
ALIX-CHMP4 interactions in the human ESCRT pathway. Proc Natl Acad Sci U S A (2008) 1.91
Genotype-phenotype correlation in primary carnitine deficiency. Hum Mutat (2011) 1.91
A first prospective, randomized, double-blind, placebo-controlled clinical trial evaluating extracorporeal shock wave therapy for the treatment of Peyronie's disease. Eur Urol (2009) 1.91
Combination of bevacizumab and docetaxel in docetaxel-pretreated hormone-refractory prostate cancer: a phase 2 study. Eur Urol (2008) 1.91
Maximum-likelihood estimation of recent shared ancestry (ERSA). Genome Res (2011) 1.88
EIF2AK4 mutations in pulmonary capillary hemangiomatosis. Chest (2014) 1.88
Clinical characteristics and natural history of Freeman-Sheldon syndrome. Pediatrics (2006) 1.82
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. Am J Hum Genet (2007) 1.82
Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. Genet Med (2011) 1.81
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
RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations. Br J Haematol (2004) 1.76
Differential role of CD133 and CXCR4 in renal cell carcinoma. Cell Cycle (2010) 1.73
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
Response to chen et Al.: carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation. Hum Mutat (2013) 1.67
Mobile element scanning (ME-Scan) identifies thousands of novel Alu insertions in diverse human populations. Genome Res (2013) 1.66
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. Am J Hum Genet (2012) 1.65
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
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet (2012) 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
Independent evolution of bitter-taste sensitivity in humans and chimpanzees. Nature (2006) 1.59
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
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. Am J Hum Genet (2012) 1.46