Associated Papers
Germline mutational landscape in a large cohort of Indian breast cancer.
Peter J et al.
Bmc Cancer, 2025
Non-invasive prenatal testing for dominant single-gene disorders using targeted next-generation sequencing.
Zhang H et al.
Qjm : Monthly Journal of the Association of Physicians, 2025
Discovery of a Novel Shared Variant Among RTEL1 Gene and RTEL1-TNFRSF6B lncRNA at Chromosome 20q13.33 in Familial Progressive Myoclonus Epilepsy.
Chaudhari S et al.
International Journal of Genomics, 2024
RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.
Wong S et al.
Embo Molecular Medicine, 2023
Utility of trio-based prenatal exome sequencing incorporating splice-site and mitochondrial genome assessment in pregnancies with fetal ultrasound anomalies: prospective cohort study.
Zhu X et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4
Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.
Fujikura K
Plos One, 2016
27219052 (PubMed )
Supplement: pone.0155552.s003.pdf
RAF1 mutations in childhood-onset dilated cardiomyopathy.
Dhandapany PS et al.
Nature Genetics, 2014
Select a paper to view details