Associated Papers
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.
Hou H et al.
Npj Genomic Medicine, 2025
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.
Sheth H et al.
Human Genomics, 2024
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Kooshavar D et al.
Brain Communications, 2024
International Society of Blood Transfusion Working Party on Red Cell Immunogenetics and Blood Group Terminology Report of Basel and three virtual business meetings: Update on blood group systems.
Gassner C et al.
Vox Sanguinis, 2022
PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
Tremblay-Laganière C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Lionel AC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Anti-Emm, a rare specificity to the high-incidence antigen Emm in an Indian patient defining the new blood group system EMM (ISBT042).
Shah RJ et al.
Asian Journal of Transfusion Science, 0
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