Associated Papers
Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.
Zhou C et al.
Chinese Medical Journal, 2023
37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET
High throughput single cell long-read sequencing analyses of same-cell genotypes and phenotypes in human tumors.
Shiau CK et al.
Nature Communications, 2023
37433798 (PubMed )
Supplement: 41467_2023_39813_MOESM3_ESM.zip › Supplementary_Data › Supplementary_Data9_Myeloid_cell_expanded_mutations.xlsx › Supplemental_Data_9
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_MOESM4_ESM.xlsx › Sheet1
Ayurgenomics for stratified medicine: TRISUTRA consortium initiative across ethnically and geographically diverse Indian populations.
Prasher B et al.
Journal of Ethnopharmacology, 2017
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC11_ERR166336
Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.
Christodoulou K et al.
Gut, 2013
22543157 (PubMed )
Supplement: gutjnl-2011-301833-s1.pdf
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