Associated Papers
Introduction of an Optimized Protocol for Long-Read Nanopore Sequencing of Blood Group Genes in Immunohematology Case Studies.
Wörner L et al.
Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2026
Characterization of Blood Group Variants in an Omani Population by Comparison of Whole Genome Sequencing and Serology.
Haffener PE et al.
Biorxiv : the Preprint Server for Biology, 2024
Targeted next-generation sequencing and long-read HiFi sequencing provide novel insights into clinically significant KLF1 variants.
Ye L et al.
Bmc Genomics, 2024
Search of a genomic sequence database for potential novel blood group antigens: Investigation into why some amino acid substitutions are not immunogenic.
Howe JG et al.
Transfusion, 2023
Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.
Cukier HN et al.
Npj Parkinson's Disease, 2022
35768426 (PubMed )
Supplement: 41531_2022_346_MOESM2_ESM.xlsx › SupTab1
Next-Generation Sequencing Technologies in Blood Group Typing.
Fürst D et al.
Transfusion Medicine and Hemotherapy : Offizielles Organ Der Deutschen Gesellschaft Fur Transfusionsmedizin Und Immunhamatologie, 2020
Validated Reference Panel from Renewable Source of Genomic DNA Available for Standardization of Blood Group Genotyping.
Volkova E et al.
The Journal of Molecular Diagnostics : Jmd, 2019
Genomic coordinates and continental distribution of 120 blood group variants reported by the 1000 Genomes Project.
Montemayor-Garcia C et al.
Transfusion, 2018
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.
Dewey FE et al.
Science (new York, N.y.), 2016
28008009 (PubMed )
Supplement: aaf6814-dewey-tabless1-s14.xlsx › Table_S5
Systematic evaluation of coding variation identifies a candidate causal variant in TM6SF2 influencing total cholesterol and myocardial infarction risk.
Holmen OL et al.
Nature Genetics, 2014
24633158 (PubMed )
Supplement: NIHMS570373-supplement-1.pdf
A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.
Villa F et al.
Immunity & Ageing : I & A, 2014
25469153 (PubMed )
Supplement: 12979_2014_19_MOESM2_ESM.xls › Sheet1
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII
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