From a single whole exome read to notions of clinical screening: primary ciliary dyskinesia and RSPH9 p.Lys268del in the Arabian Peninsula.

PubWeight™: 0.94‹?›

🔗 View Article (PMC 3575730)

Published in Ann Hum Genet on March 02, 2012

Authors

Muslim M Alsaadi1, Tom R Gaunt, Christopher R Boustred, Philip A I Guthrie, Xuan Liu, Luca Lenzi, Lucille Rainbow, Neil Hall, Khalid K Alharbi, Ian N M Day

Author Affiliations

1: College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia.

Articles cited by this

Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics (2009) 190.94

The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res (2010) 97.51

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res (2010) 43.51

Integrative genomics viewer. Nat Biotechnol (2011) 42.83

The variant call format and VCFtools. Bioinformatics (2011) 25.88

Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science (2010) 18.45

Database resources of the National Center for Biotechnology Information. Nucleic Acids Res (2010) 10.97

The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet (2006) 9.56

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science (1994) 4.86

Quantification of homozygosity in consanguineous individuals with autosomal recessive disease. Am J Hum Genet (2006) 3.52

What can exome sequencing do for you? J Med Genet (2011) 2.63

The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. Nat Genet (2010) 2.25

CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. Nat Genet (2010) 2.12

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. Am J Hum Genet (2009) 2.10

Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. Am J Hum Genet (2009) 2.07

Mutation discovery by targeted genomic enrichment of multiplexed barcoded samples. Nat Methods (2010) 1.77

Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. Am J Hum Genet (2011) 1.49

Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. Genet Med (2011) 1.42

Primary ciliary dyskinesia: genes, candidate genes and chromosomal regions. J Appl Genet (2004) 1.38

Demographics of the UK cystic fibrosis population: implications for neonatal screening. Eur J Hum Genet (2002) 1.33

Nasal and lower airway level of nitric oxide in children with primary ciliary dyskinesia. Eur Respir J (1999) 1.32

Ciliary defects and genetics of primary ciliary dyskinesia. Paediatr Respir Rev (2009) 1.19

Knowledge and attitude toward the hemoglobinopathies premarital screening program in Saudi Arabia: population-based survey. Hemoglobin (2008) 1.08

Retrograde Shiga toxin trafficking is regulated by ARHGAP21 and Cdc42. Mol Biol Cell (2009) 0.97

Neonatal screening for cystic fibrosis is beneficial even in the context of modern treatment. J Pediatr (2005) 0.86

Founder mutation(s) in the RSPH9 gene leading to primary ciliary dyskinesia in two inbred Bedouin families. Ann Hum Genet (2010) 0.81

Articles by these authors

Genome sequence of the human malaria parasite Plasmodium falciparum. Nature (2002) 37.89

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89

Accurate determination of microbial diversity from 454 pyrosequencing data. Nat Methods (2009) 15.25

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25

The genome of the African trypanosome Trypanosoma brucei. Science (2005) 11.48

Genomic sequence of the pathogenic and allergenic filamentous fungus Aspergillus fumigatus. Nature (2005) 8.55

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet (2010) 7.94

GeneDB: a resource for prokaryotic and eukaryotic organisms. Nucleic Acids Res (2004) 6.30

Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. PLoS Genet (2009) 5.81

Analysis of the bread wheat genome using whole-genome shotgun sequencing. Nature (2012) 5.67

C-reactive protein and its role in metabolic syndrome: mendelian randomisation study. Lancet (2005) 5.51

Analysis of the Plasmodium falciparum proteome by high-accuracy mass spectrometry. Nature (2002) 5.48

Comparative genomics of trypanosomatid parasitic protozoa. Science (2005) 5.37

The genome of the protist parasite Entamoeba histolytica. Nature (2005) 5.33

PTEN tumor suppressor regulates p53 protein levels and activity through phosphatase-dependent and -independent mechanisms. Cancer Cell (2003) 5.13

Hardy-Weinberg equilibrium testing of biological ascertainment for Mendelian randomization studies. Am J Epidemiol (2009) 4.70

Regulation of sexual development of Plasmodium by translational repression. Science (2006) 4.15

Vorapaxar in the secondary prevention of atherothrombotic events. N Engl J Med (2012) 4.10

Predicting the functional, molecular, and phenotypic consequences of amino acid substitutions using hidden Markov models. Hum Mutat (2012) 3.60

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21

An ancestral oomycete locus contains late blight avirulence gene Avr3a, encoding a protein that is recognized in the host cytoplasm. Proc Natl Acad Sci U S A (2005) 3.06

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet (2012) 3.04

Antagonistic coevolution accelerates molecular evolution. Nature (2010) 2.80

Genome sequence of Theileria parva, a bovine pathogen that transforms lymphocytes. Science (2005) 2.71

A transcriptomic analysis of the phylum Nematoda. Nat Genet (2004) 2.68

Comparative genomics of transcriptional control in the human malaria parasite Plasmodium falciparum. Genome Res (2004) 2.66

Genome of the host-cell transforming parasite Theileria annulata compared with T. parva. Science (2005) 2.55

Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci. Am J Hum Genet (2012) 2.53

Association of C-reactive protein with blood pressure and hypertension: life course confounding and mendelian randomization tests of causality. Arterioscler Thromb Vasc Biol (2005) 2.42

Towards the human colorectal cancer microbiome. PLoS One (2011) 2.30

Comparative transcriptional profiling of two contrasting rice genotypes under salinity stress during the vegetative growth stage. Plant Physiol (2005) 2.28

Secretory phospholipase A(2)-IIA and cardiovascular disease: a mendelian randomization study. J Am Coll Cardiol (2013) 2.18

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height. Am J Hum Genet (2010) 2.15

Transcript-specific, single-nucleotide polymorphism discovery and linkage analysis in hexaploid bread wheat (Triticum aestivum L.). Plant Biotechnol J (2011) 2.13

Plasmodium falciparum variant surface antigen expression patterns during malaria. PLoS Pathog (2005) 2.13

Predicting the functional consequences of cancer-associated amino acid substitutions. Bioinformatics (2013) 2.12

A Plasmodium whole-genome synteny map: indels and synteny breakpoints as foci for species-specific genes. PLoS Pathog (2005) 2.05

Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. Am J Hum Genet (2009) 2.04

Application of next-generation sequencing technologies in virology. J Gen Virol (2012) 1.98

Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. Am J Hum Genet (2012) 1.96

Endoscopic Functional Fourier Domain Common Path Optical Coherence Tomography for Microsurgery. IEEE J Sel Top Quantum Electron (2010) 1.88

A genome-wide association search for type 2 diabetes genes in African Americans. PLoS One (2012) 1.72

Niacin lipid efficacy is independent of both the niacin receptor GPR109A and free fatty acid suppression. Sci Transl Med (2012) 1.71

Horizontal gene transfer facilitated the evolution of plant parasitic mechanisms in the oomycetes. Proc Natl Acad Sci U S A (2011) 1.71

Mechanistic insights into maintenance of high p53 acetylation by PTEN. Mol Cell (2006) 1.68

Miniature fiber-optic force sensor based on low-coherence Fabry-Pérot interferometry for vitreoretinal microsurgery. Biomed Opt Express (2012) 1.63

Experimental results from a preclinical X-ray phase-contrast CT scanner. Proc Natl Acad Sci U S A (2012) 1.63

Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Proc Natl Acad Sci U S A (2010) 1.60

IQ, educational attainment, memory and plasma lipids: associations with apolipoprotein E genotype in 5995 children. Biol Psychiatry (2011) 1.59

A specific PP2A regulatory subunit, B56gamma, mediates DNA damage-induced dephosphorylation of p53 at Thr55. EMBO J (2007) 1.58

The association of oestrogen receptor alpha-haplotypes with cardiovascular risk factors in the British Women's Heart and Health Study. Eur Heart J (2006) 1.57

The intestinal protozoan parasite Entamoeba histolytica contains 20 cysteine protease genes, of which only a small subset is expressed during in vitro cultivation. Eukaryot Cell (2003) 1.51

Dependence of deodorant usage on ABCC11 genotype: scope for personalized genetics in personal hygiene. J Invest Dermatol (2013) 1.51

Use of genotype frequencies in medicated groups to investigate prescribing practice: APOE and statins as a proof of principle. Clin Chem (2011) 1.49

p53 acetylation is crucial for its transcription-independent proapoptotic functions. J Biol Chem (2009) 1.48

An acetylation switch in p53 mediates holo-TFIID recruitment. Mol Cell (2007) 1.48

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

Oxytocin is an anabolic bone hormone. Proc Natl Acad Sci U S A (2009) 1.44

Phosphorylation on Thr-55 by TAF1 mediates degradation of p53: a role for TAF1 in cell G1 progression. Mol Cell (2004) 1.44

Analysis of gene expression from the Wolbachia genome of a filarial nematode supports both metabolic and defensive roles within the symbiosis. Genome Res (2012) 1.39

Serine 15 phosphorylation of p53 directs its interaction with B56gamma and the tumor suppressor activity of B56gamma-specific protein phosphatase 2A. Mol Cell Biol (2007) 1.37

Gene synteny and evolution of genome architecture in trypanosomatids. Mol Biochem Parasitol (2004) 1.36

Targeted re-sequencing of the allohexaploid wheat exome. Plant Biotechnol J (2012) 1.35

Resveratrol inhibits invasion and metastasis of colorectal cancer cells via MALAT1 mediated Wnt/β-catenin signal pathway. PLoS One (2013) 1.34

The genetic map and comparative analysis with the physical map of Trypanosoma brucei. Nucleic Acids Res (2005) 1.33

Insight into the genome of Aspergillus fumigatus: analysis of a 922 kb region encompassing the nitrate assimilation gene cluster. Fungal Genet Biol (2004) 1.33

The genome of model malaria parasites, and comparative genomics. Curr Issues Mol Biol (2005) 1.32

ACE2 and Ang-(1-7) confer protection against development of diabetic retinopathy. Mol Ther (2011) 1.32

Influence of common genetic variation on blood lipid levels, cardiovascular risk, and coronary events in two British prospective cohort studies. Eur Heart J (2012) 1.30

Activation of mitogen-activated protein kinase and NF-kappaB pathways by a Kaposi's sarcoma-associated herpesvirus K15 membrane protein. J Virol (2003) 1.30

Common inheritance of chromosome Ia associated with clonal expansion of Toxoplasma gondii. Genome Res (2006) 1.28

AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia. PLoS One (2012) 1.28

Short-term effect of cocoa product consumption on lipid profile: a meta-analysis of randomized controlled trials. Am J Clin Nutr (2010) 1.28

The association of C-reactive protein and CRP genotype with coronary heart disease: findings from five studies with 4,610 cases amongst 18,637 participants. PLoS One (2008) 1.28

Loci influencing blood pressure identified using a cardiovascular gene-centric array. Hum Mol Genet (2013) 1.27

GeMInA, Genomic Metadata for Infectious Agents, a geospatial surveillance pathogen database. Nucleic Acids Res (2009) 1.27

ACTH protects against glucocorticoid-induced osteonecrosis of bone. Proc Natl Acad Sci U S A (2010) 1.26

Real-time 3D and 4D Fourier domain Doppler optical coherence tomography based on dual graphics processing units. Biomed Opt Express (2012) 1.25

Paraptosis accompanied by autophagy and apoptosis was induced by celastrol, a natural compound with influence on proteasome, ER stress and Hsp90. J Cell Physiol (2012) 1.25

Genetic association study of BDNF in depression: finding from two cohort studies and a meta-analysis. Am J Med Genet B Neuropsychiatr Genet (2008) 1.24

MIDAS: software for analysis and visualisation of interallelic disequilibrium between multiallelic markers. BMC Bioinformatics (2006) 1.24

Influences of matrix metalloproteinase-3 gene variation on extent of coronary atherosclerosis and risk of myocardial infarction. J Am Coll Cardiol (2003) 1.24

The diversity of Rab GTPases in Entamoeba histolytica. Exp Parasitol (2005) 1.23

Unique organisation of tRNA genes in Entamoeba histolytica. Mol Biochem Parasitol (2005) 1.22

Large-scale expression profiling and physiological characterization of jasmonic acid-mediated adaptation of barley to salinity stress. Plant Cell Environ (2007) 1.22

A case for a Glossina genome project. Trends Parasitol (2005) 1.22

Glutathione peroxidase 1 is regulated by the c-Abl and Arg tyrosine kinases. J Biol Chem (2003) 1.22

Comparative genomics and transduction potential of Enterococcus faecalis temperate bacteriophages. J Bacteriol (2009) 1.21