Clinical characterization of individuals with the distal 1q21.1 microdeletion
Author:
Affiliation:
1. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA
2. Texas Children's Hospital Houston Texas USA
3. Baylor Genetics Houston Texas USA
4. St. Petersburg State University St Petersburg Russia
Funder
National Human Genome Research Institute
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62104
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1. Phenotypic and genotypic characterization of 1q21.1 copy number variants: A report of 34 new individuals and literature review;American Journal of Medical Genetics Part A;2023-10-26
2. Genetic and ultrasonographic analyses of fetuses with 1q21.1q21.2 microdeletion/microduplication: a retrospective study;BMC Medical Genomics;2023-08-23
3. Copy-number variation in congenital heart disease;Current Opinion in Genetics & Development;2022-12
4. Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits;Genome Medicine;2022-09-30
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