Copy Number Variants
Copy Number Variants in Human Health and Disease - May 26, 2015
Copy number variations and cognitive phenotypes in unselected populations ![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sxXumhA0XhqAQe-hpLoK75Gyq9-v-u71VvR2bJtPKvm5vpwZxiV8uusAW0r1K_c9XSTb6xnvITXkH9t7QIGC8PmczeMr6n8f0sHMejQSA3xtjWv6z8XY8r=s0-d)
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Mannik K et al, JAMA May 26, 2015
Cognitive phenotypes and genomic copy number variations![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sxXumhA0XhqAQe-hpLoK75Gyq9-v-u71VvR2bJtPKvm5vpwZxiV8uusAW0r1K_c9XSTb6xnvITXkH9t7QIGC8PmczeMr6n8f0sHMejQSA3xtjWv6z8XY8r=s0-d)
Lupski JR , JAMA May 26, 2015
Lupski JR , JAMA May 26, 2015
Clinical implications of copy number variations in autoimmune disorders.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sxXumhA0XhqAQe-hpLoK75Gyq9-v-u71VvR2bJtPKvm5vpwZxiV8uusAW0r1K_c9XSTb6xnvITXkH9t7QIGC8PmczeMr6n8f0sHMejQSA3xtjWv6z8XY8r=s0-d)
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The variation game: Cracking complex genetic disorders with NGS and omics data.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sxXumhA0XhqAQe-hpLoK75Gyq9-v-u71VvR2bJtPKvm5vpwZxiV8uusAW0r1K_c9XSTb6xnvITXkH9t7QIGC8PmczeMr6n8f0sHMejQSA3xtjWv6z8XY8r=s0-d)
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Cui H et al. Methods 2015 Jun 1. 18-31
Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sxXumhA0XhqAQe-hpLoK75Gyq9-v-u71VvR2bJtPKvm5vpwZxiV8uusAW0r1K_c9XSTb6xnvITXkH9t7QIGC8PmczeMr6n8f0sHMejQSA3xtjWv6z8XY8r=s0-d)
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Choucair N et al. Mol Cytogenet 2015 26
Genomic microarray in fetuses with increased nuchal translucency and normal karyotype - a systematic review and meta-analysis.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sxXumhA0XhqAQe-hpLoK75Gyq9-v-u71VvR2bJtPKvm5vpwZxiV8uusAW0r1K_c9XSTb6xnvITXkH9t7QIGC8PmczeMr6n8f0sHMejQSA3xtjWv6z8XY8r=s0-d)
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Cerebral palsy - causes, pathways, and the role of genetic variants.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sxXumhA0XhqAQe-hpLoK75Gyq9-v-u71VvR2bJtPKvm5vpwZxiV8uusAW0r1K_c9XSTb6xnvITXkH9t7QIGC8PmczeMr6n8f0sHMejQSA3xtjWv6z8XY8r=s0-d)
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The clinical utility of next-generation sequencing for identifying chromosome disease syndromes in human embryos.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sxXumhA0XhqAQe-hpLoK75Gyq9-v-u71VvR2bJtPKvm5vpwZxiV8uusAW0r1K_c9XSTb6xnvITXkH9t7QIGC8PmczeMr6n8f0sHMejQSA3xtjWv6z8XY8r=s0-d)
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Genome wide analysis of novel copy number variations duplications/deletions of different epileptic patients in Saudi Arabia.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sxXumhA0XhqAQe-hpLoK75Gyq9-v-u71VvR2bJtPKvm5vpwZxiV8uusAW0r1K_c9XSTb6xnvITXkH9t7QIGC8PmczeMr6n8f0sHMejQSA3xtjWv6z8XY8r=s0-d)
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Naseer MI et al. BMC Genomics 2015 S10
Structural variation mutagenesis of the human genome: Impact on disease and evolution.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sxXumhA0XhqAQe-hpLoK75Gyq9-v-u71VvR2bJtPKvm5vpwZxiV8uusAW0r1K_c9XSTb6xnvITXkH9t7QIGC8PmczeMr6n8f0sHMejQSA3xtjWv6z8XY8r=s0-d)
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Lupski JR et al. Environ. Mol. Mutagen. 2015 Apr 17.
Copy-number variation and false positive prenatal aneuploidy screening results.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sxXumhA0XhqAQe-hpLoK75Gyq9-v-u71VvR2bJtPKvm5vpwZxiV8uusAW0r1K_c9XSTb6xnvITXkH9t7QIGC8PmczeMr6n8f0sHMejQSA3xtjWv6z8XY8r=s0-d)
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Snyder MW et al. N. Engl. J. Med. 2015 Apr 23. (17) 1639-45
Copy number variation burden on asthma subgenome in normal cohorts identifies susceptibility markers.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sxXumhA0XhqAQe-hpLoK75Gyq9-v-u71VvR2bJtPKvm5vpwZxiV8uusAW0r1K_c9XSTb6xnvITXkH9t7QIGC8PmczeMr6n8f0sHMejQSA3xtjWv6z8XY8r=s0-d)
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Vishweswaraiah S et al. Allergy Asthma Immunol Res 2015 May (3) 265-75
Copy number variations' effect on drug response still overlooked.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sxXumhA0XhqAQe-hpLoK75Gyq9-v-u71VvR2bJtPKvm5vpwZxiV8uusAW0r1K_c9XSTb6xnvITXkH9t7QIGC8PmczeMr6n8f0sHMejQSA3xtjWv6z8XY8r=s0-d)
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Willyard C et al. Nat. Med. 2015 Mar (3) 206
Rare structural genetic variation in human prion diseases.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sxXumhA0XhqAQe-hpLoK75Gyq9-v-u71VvR2bJtPKvm5vpwZxiV8uusAW0r1K_c9XSTb6xnvITXkH9t7QIGC8PmczeMr6n8f0sHMejQSA3xtjWv6z8XY8r=s0-d)
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Lukic A et al. Neurobiol. Aging 2015 May (5) 2004.e1-8
Estimating copy numbers of alleles from population-scale high-throughput sequencing data.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sxXumhA0XhqAQe-hpLoK75Gyq9-v-u71VvR2bJtPKvm5vpwZxiV8uusAW0r1K_c9XSTb6xnvITXkH9t7QIGC8PmczeMr6n8f0sHMejQSA3xtjWv6z8XY8r=s0-d)
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Mimori T et al. BMC Bioinformatics 2015 S4
Copy number variations in children with brain malformations and refractory epilepsy.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sxXumhA0XhqAQe-hpLoK75Gyq9-v-u71VvR2bJtPKvm5vpwZxiV8uusAW0r1K_c9XSTb6xnvITXkH9t7QIGC8PmczeMr6n8f0sHMejQSA3xtjWv6z8XY8r=s0-d)
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Wincent J et al. Am. J. Med. Genet. A 2015 Mar (3) 512-23
A copy number variation map of the human genome.![External Web Site Icon External Web Site Icon](https://lh3.googleusercontent.com/blogger_img_proxy/AEn0k_sxXumhA0XhqAQe-hpLoK75Gyq9-v-u71VvR2bJtPKvm5vpwZxiV8uusAW0r1K_c9XSTb6xnvITXkH9t7QIGC8PmczeMr6n8f0sHMejQSA3xtjWv6z8XY8r=s0-d)
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Zarrei M et al. Nat. Rev. Genet. 2015 Mar (3) 172-83
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