Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease
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- 1 February 2009
- journal article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 84 (2), 148-161
- https://doi.org/10.1016/j.ajhg.2008.12.014
Abstract
No abstract availableKeywords
This publication has 56 references indexed in Scilit:
- 22q11.2 Distal Deletion: A Recurrent Genomic Disorder Distinct from DiGeorge Syndrome and Velocardiofacial SyndromeAmerican Journal of Human Genetics, 2008
- Germline rates of de novo meiotic deletions and duplications causing several genomic disordersNature Genetics, 2007
- Recurrent 16p11.2 microdeletions in autismHuman Molecular Genetics, 2007
- Detection of large-scale variation in the human genomeNature Genetics, 2004
- Large-Scale Copy Number Polymorphism in the Human GenomeScience, 2004
- Recent Segmental Duplications in the Human GenomeScience, 2002
- Genomic Disorders on 22q11American Journal of Human Genetics, 2002
- A Human Genome Diversity Cell Line PanelScience, 2002
- Effect of Statin Therapy on C-Reactive Protein LevelsJAMA, 2001
- Large multi-chromosomal duplications encompass many members of the olfactory receptor gene family in the human genome.Human Molecular Genetics, 1998