Published in Am J Med Genet A on September 01, 2006
TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype. Eur J Hum Genet (2012) 1.17
Molecular genetics of congenital atrial septal defects. Clin Res Cardiol (2009) 0.99
Functional analysis of the novel TBX5 c.1333delC mutation resulting in an extended TBX5 protein. BMC Med Genet (2008) 0.92
A genetic assay of three patients in the same family with Holt-Oram syndrome; a case report. Rep Biochem Mol Biol (2013) 0.75
Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the TBX5 and the TBX3 genes. Springerplus (2016) 0.75
Exome sequencing identifies the cause of a mendelian disorder. Nat Genet (2009) 32.06
Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science (2012) 17.12
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
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
Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. Nat Genet (2004) 5.19
Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet A (2007) 5.15
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
Single-nucleotide evolutionary constraint scores highlight disease-causing mutations. Nat Methods (2010) 4.51
Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A (2011) 4.27
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
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet (2010) 3.82
Large-scale SNP analysis reveals clustered and continuous patterns of human genetic variation. Hum Genomics (2005) 3.77
Massively parallel sequencing and rare disease. Hum Mol Genet (2010) 3.28
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. Am J Hum Genet (2006) 3.26
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
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. Arthritis Rheum (2010) 2.50
Genetic variation among world populations: inferences from 100 Alu insertion polymorphisms. Genome Res (2003) 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
Natural selection and molecular evolution in PTC, a bitter-taste receptor gene. Am J Hum Genet (2004) 2.33
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
Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet (2011) 2.16
Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease. N Engl J Med (2016) 2.15
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. Nat Genet (2012) 2.14
Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients. Hum Mutat (2009) 1.85
Clinical characteristics and natural history of Freeman-Sheldon syndrome. Pediatrics (2006) 1.82
The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways. PLoS One (2008) 1.76
A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet (2009) 1.71
TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome. Am J Hum Genet (2008) 1.68
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. Am J Hum Genet (2012) 1.65
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. Am J Hum Genet (2012) 1.63
Independent evolution of bitter-taste sensitivity in humans and chimpanzees. Nature (2006) 1.59
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. Am J Hum Genet (2012) 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
Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia. Am J Hum Genet (2012) 1.46
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome. Am J Hum Genet (2004) 1.45
Informed consent for whole genome sequencing: a qualitative analysis of participant expectations and perceptions of risks, benefits, and harms. Am J Med Genet A (2012) 1.44
Self-guided management of exome and whole-genome sequencing results: changing the results return model. Genet Med (2013) 1.43
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A (2011) 1.43
Recurrent gain-of-function mutation in PRKG1 causes thoracic aortic aneurysms and acute aortic dissections. Am J Hum Genet (2013) 1.40
Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa. J Invest Dermatol (2006) 1.39
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. Hum Mutat (2011) 1.36
Inferring genetic ancestry: opportunities, challenges, and implications. Am J Hum Genet (2010) 1.36
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet (2006) 1.34
A genomic rearrangement resulting in a tandem duplication is associated with split hand-split foot malformation 3 (SHFM3) at 10q24. Hum Mol Genet (2003) 1.32
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome. Am J Hum Genet (2006) 1.31
Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype. Am J Hum Genet (2003) 1.26
Expression of a truncated Sall1 transcriptional repressor is responsible for Townes-Brocks syndrome birth defects. Hum Mol Genet (2003) 1.25
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Med Genet (2011) 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
Attitudes of African Americans toward return of results from exome and whole genome sequencing. Am J Med Genet A (2013) 1.21
Practices and policies of clinical exome sequencing providers: analysis and implications. Am J Med Genet A (2013) 1.21
Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. Am J Hum Genet (2009) 1.21
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 large-scale mutation search reveals genetic heterogeneity in 3M syndrome. Eur J Hum Genet (2008) 1.19
Lethal arrhythmias in Tbx3-deficient mice reveal extreme dosage sensitivity of cardiac conduction system function and homeostasis. Proc Natl Acad Sci U S A (2011) 1.19
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. Am J Hum Genet (2013) 1.19
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome. Hum Mutat (2013) 1.17
Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans. PLoS Genet (2013) 1.17
Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification. Eur J Med Genet (2005) 1.15
Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. Am J Hum Genet (2008) 1.15
Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. Am J Respir Crit Care Med (2014) 1.14
The promise and limitations of population exomics for human evolution studies. Genome Biol (2011) 1.13
Genetic diversity in India and the inference of Eurasian population expansion. Genome Biol (2010) 1.13
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. Am J Hum Genet (2011) 1.12
Array CGH in molecular diagnosis of mental retardation - A study of 150 Finnish patients. Am J Med Genet A (2010) 1.12
Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination. Am J Hum Genet (2009) 1.11
Prevalence of mutations in AGPAT2 among human lipodystrophies. Diabetes (2003) 1.11
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. Am J Hum Genet (2013) 1.11
Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene. J Invest Dermatol (2006) 1.10
Contrasting effects of natural selection on human and chimpanzee CC chemokine receptor 5. Am J Hum Genet (2004) 1.10
Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation. Am J Med Genet A (2010) 1.09
Trismus-pseudocamptodactyly syndrome is caused by recurrent mutation of MYH8. Am J Med Genet A (2006) 1.08
Genotype-phenotype relationships in Freeman-Sheldon syndrome. Am J Med Genet A (2014) 1.08
A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome. Am J Hum Genet (2012) 1.07
Confirmation of EP300 gene mutations as a rare cause of Rubinstein-Taybi syndrome. Eur J Hum Genet (2007) 1.06
Spectrum of mutations that cause distal arthrogryposis types 1 and 2B. Am J Med Genet A (2013) 1.06
SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype. Hum Mutat (2005) 1.05
Mutations in ECEL1 cause distal arthrogryposis type 5D. Am J Hum Genet (2012) 1.04
Familial aggregation of juvenile idiopathic arthritis. Arthritis Rheum (2004) 1.04
Crohn's disease and genetic hitchhiking at IBD5. Mol Biol Evol (2011) 1.03
Reply to: "Experimental aspects of copy number variant assays at CCL3L1". Nat Med (2009) 1.03
Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. Am J Hum Genet (2013) 1.03
Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1. J Clin Endocrinol Metab (2007) 1.02
Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: clinical and radiographic delineation of a pleiotropic disorder. Am J Med Genet A (2006) 1.02
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). Am J Med Genet A (2011) 1.02
Recurrent dominant mutations affecting two adjacent residues in the motor domain of the monomeric kinesin KIF22 result in skeletal dysplasia and joint laxity. Am J Hum Genet (2011) 1.02
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. J Med Genet (2011) 1.02
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases. Am J Med Genet A (2010) 1.01
Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. Hum Mutat (2007) 1.01
Quantifying rare, deleterious variation in 12 human cytochrome P450 drug-metabolism genes in a large-scale exome dataset. Hum Mol Genet (2013) 1.00
CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant. J Med Genet (2010) 0.99
Chondrodysplasia punctata associated with maternal autoimmune diseases: expanding the spectrum from systemic lupus erythematosus (SLE) to mixed connective tissue disease (MCTD) and scleroderma report of eight cases. Am J Med Genet A (2008) 0.99
Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta. J Biol Chem (2008) 0.99