Publications
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Filters: Keyword is DNA Copy Number Variations and Author is Boone, Philip M [Clear All Filters]
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 2017 ;45(4):1633-1648.
. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 ;139(1):232-245.
. The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. Am J Hum Genet. 2014 ;95(2):143-61.
. Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D. Genet Med. 2014 ;16(5):386-394.
. Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res. 2013 ;23(9):1383-94.
. Detection of clinically relevant copy number variants with whole-exome sequencing. Hum Mutat. 2013 ;34(10):1439-48.
. Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med. 2013 ;15(1):45-54.
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