Associated Papers
Functional categorization of gene regulatory variants that cause Mendelian conditions.
Cheng YHH et al.
Human Genetics, 2024
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
Sun J et al.
Genomics, Proteomics & Bioinformatics, 2020
32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6
Saturation mutagenesis of twenty disease-associated regulatory elements at single base-pair resolution.
Kircher M et al.
Nature Communications, 2019
31395865 (PubMed )
Supplement: 41467_2019_11526_MOESM1_ESM.pdf
A Rapid, Affordable and Feasible Method for Detection of the HBG1: g.-225_-222delAGCA Polymorphism.
Musso M et al.
Hemoglobin, 2018
Detection of germline rearrangements in patients with α- and β-thalassemia using high resolution array CGH.
Blattner A et al.
Blood Cells, Molecules & Diseases, 2013
Systematic documentation and analysis of human genetic variation in hemoglobinopathies using the microattribution approach.
Giardine B et al.
Nature Genetics, 2011
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