Copy Number Variants ► Public Health Genomics Knowledge Base (v1.0)

Public Health Genomics Knowledge Base (v1.0)

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Last Updated: Feb 25, 2016

• Clinical Validation of a Non-Invasive Prenatal Test for Genome-Wide Detection of Fetal Copy Number Variants.
  Lefkowitz Roy B et al. American journal of obstetrics and gynecology 2016 Feb (From Genomics & Health Impact Scan Database)
• A Copy Number Variant on Chromosome 20q13.3 Implicated in Thinness and Severe Obesity.
  Hasstedt Sandra J, et al. Journal of obesity 2015 0 623431 (From HuGE Literature Finder)
• Detection rate of actionable mutations in diverse cancers using a biopsy-free (blood) circulating tumor cell DNA assay.
  Schwaederle Maria, et al. Oncotarget 2016 2 (From HuGE Literature Finder)
• Whole Exome Sequencing in Recurrent Early Pregnancy Loss (RPL).
  Qiao Ying, et al. Molecular human reproduction 2016 1 (From HuGE Literature Finder)
• The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
  Wenger Tara L, et al. Scientific reports 2016 0 19372 (From HuGE Literature Finder)
• Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis.
  Spier Isabel, et al. Familial cancer 2016 1 (From HuGE Literature Finder)
• Characterization of copy number variants for CCL3L1 gene in rheumatoid arthritis for French trio families and Tunisian cases and controls.
  Ben Kilani Mohamed Sahbi, et al. Clinical rheumatology 2016 1 (From HuGE Literature Finder)
• Copy number variants prioritization after array-CGH analysis - a cohort of 1000 patients.
  Carreira Isabel Marques, et al. Molecular cytogenetics 2015 0 103 (From HuGE Literature Finder)
• Copy number variations in spermatogenic failure patients with chromosomal abnormalities and unexplained azoospermia.
  Dong Y, et al. Genetics and molecular research : GMR 2015 0 (4) 16041-9 (From HuGE Literature Finder)
• Rare copy number variants implicated in posterior urethral valves.
  Boghossian Nansi S, et al. American journal of medical genetics. Part A 2015 12 (From HuGE Literature Finder)
• Genome-Wide Copy Number Variation Scan Identifies Complement Component C4 as Novel Susceptibility Gene for Crohn's Disease.
  Cleynen Isabelle, et al. Inflammatory bowel diseases 2015 11 (From HuGE Literature Finder)
• Somatic alterations of CDKN1B are associated with small bowel neuroendocrine tumors.
  Maxwell Jessica E, et al. Cancer genetics 2015 9 (From HuGE Literature Finder)
• Application of DNA Microarray to Clinical Diagnostics.
  Patel Ankita, et al. Methods in molecular biology (Clifton, N.J.) 2016 0 111-32 (From HuGE Literature Finder)
• Genetic polymorphisms and mutation rates of 27 Y-chromosomal STRs in a Han population from Guangdong Province, Southern China.
  Wang Ying, et al. Forensic science international. Genetics 2015 9 5-9 (From HuGE Literature Finder)
• 16p11.2 locus modulates response to satiety before the onset of obesity.
  Maillard A M, et al. International journal of obesity (2005) 2015 12 (From HuGE Literature Finder)
• Identification of rare high-risk copy number variants affecting the dopamine transporter gene in mental disorders.
  Hoeffding Louise K, et al. Nordic journal of psychiatry 2015 11 1-4 (From HuGE Literature Finder)
• Systematic analysis of copy number variants of a large cohort of orofacial cleft patients identifies candidate genes for orofacial clefts.
  Conte Federica, et al. Human genetics 2015 11 (From HuGE Literature Finder)
• Association study of copy number variants in FCGR3A and FCGR3B gene with risk of ankylosing spondylitis in a Chinese population.
  Wang Li, et al. Rheumatology international 2015 10 (From HuGE Literature Finder)
• Gene copy number variation analysis reveals dosage-insensitive expression of CYP2E1.
  Tremmel R, et al. The pharmacogenomics journal 2015 10 (From HuGE Literature Finder)
• Copy number variation analysis of the 17q21.31 region and its role in neurodegenerative diseases.
  Cervera-Carles Laura, et al. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2015 10 (From HuGE Literature Finder)