Associated Papers
Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis.
Sen S et al.
Frontiers in Genetics, 2025
40385982 (PubMed )
Supplement: Table2.xlsx › Sheet1
In-silico assessment of high-risk non-synonymous SNPs in ADAMTS3 gene associated with Hennekam syndrome and their impact on protein stability and function.
Shinwari K et al.
Bmc Bioinformatics, 2023
Revisiting the Population Genetics of Human Height.
Rotwein P
Journal of the Endocrine Society, 2020
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Schrader A et al.
Nature Communications, 2018
29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › d__Freq_TP093
Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.
Brouillard P et al.
Human Molecular Genetics, 2017
Efficient activation of the lymphangiogenic growth factor VEGF-C requires the C-terminal domain of VEGF-C and the N-terminal domain of CCBE1.
Jha SK et al.
Scientific Reports, 2017
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Pagnamenta AT et al.
Human Molecular Genetics, 2015
25855803 (PubMed )
Supplement: supp_ddv117_ddv117supp_table2.xls › Table_S2
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