Associated Papers
Whole exome sequencing reveals novel variants associated with diminished ovarian reserve in young women.
Li N et al.
Frontiers in Genetics, 2023
Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant.
Albarry MA et al.
Plos One, 2021
33571247 (PubMed )
Supplement: pone.0246607.s001.xlsx › Sheet1
Discovery of Novel Recurrent Mutations and Clinically Meaningful Subgroups in Nodal Marginal Zone Lymphoma.
Koh J et al.
Cancers, 2020
32585984 (PubMed )
Supplement: cancers-12-01669-s001.zip › NMZL_Suppletab_Koh_et_al_Cancers_rev.xlsx › Table_S2
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S5-Hom-PTVs
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 › a__Freq_TP094
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00017-Table_S23.xlsx › GATK
Deep intronic GPR143 mutation in a Japanese family with ocular albinism.
Naruto T et al.
Scientific Reports, 2015
26061757 (PubMed )
Supplement: srep11334-s1.pdf
Select a paper to view details