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Paper Details

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Genome Med
31
2019
CNV, CNVs, ES, Illumina SNP array, PCNV, PCNVs, QC array, ROH, SNVs, UPD, UPD), cardiovascular abnormalities, coding SNPs, copy, copy number variants, disease genes, exonic deletions, patients, recessive disorder, single, single nucleotide variants, single recessive disorder genes, syndromic phenotypes, uniparental disomy (
Author NameAffiliation
Pengfei Liu
Pengfei LiuBaylor College of Medicine
Jennifer E PoseyBaylor College of Medicine
Seema R Lalani
Seema R LalaniBaylor College of Medicine
Linyan Meng
Linyan MengBaylor College of Medicine
Donna M MuznyBaylor College of Medicine
Donna M MuznyBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Richard A GibbsBaylor College of Medicine
Arthur L BeaudetBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiBaylor College of Medicine
James R LupskiTexas Children's Hospital
Yaping Yang
Yaping YangBaylor College of Medicine
Weimin Bi
Weimin BiBaylor College of Medicine
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