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- [11] Exome sequencing identifies compound heterozygous KCTD7 mutations in a girl with progressivemyoclonus epilepsyCLINICA CHIMICA ACTA, 2019, 493 : 87 - 91Mei, LibinHuang, YanruChen, JingHe, XueMeiLin, ShaobinLiao, LuyingWang, XiaoYanHuang, XianJingSha, YanweiJi, ZhiyongLi, Ping
- [12] Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriersBMC MEDICAL GENETICS, 2018, 19Jalali-Sefid-Dashti, MahjoubehNel, MelissaHeckmann, Jeannine M.Gamieldien, Junaid
- [13] Exome Sequencing Identifies LOXL2 Mutation as a Cause of Familial Intracranial AneurysmWORLD NEUROSURGERY, 2018, 109 : E812 - E818Wu, YaQiuLi, ZhiliShi, YiChen, LongyiTan, HaibinWang, ZhenyuYin, ChengLiu, LingHu, Junting
- [14] Case Report: Whole exome sequencing identifies compound heterozygous variants in the TRAPPC9 gene in a child with developmental delayFRONTIERS IN GENETICS, 2024, 15Yu, BingxuanChen, JingYang, ShuoWang, HeXiao, YuanyuanLiu, Shanling
- [15] Exome sequencing identifies novel compound heterozygous mutations in GJB3 gene that cause erythrokeratodermia variabilis et progressivaAUSTRALASIAN JOURNAL OF DERMATOLOGY, 2019, 60 (01) : E87 - E89Deng, YongqiongWang, HongMou, YunzhuZeng, QiXiong, Xia
- [16] Exome sequencing identifies RDH12 compound heterozygous mutations in a family with severe retinitis pigmentosaGENE, 2013, 528 (02) : 178 - 182Chacon-Camacho, Oscar F.Jitsldi, SergueiBuentello-Volante, BeatrizQuevedo-Martinez, JonathanZenteno, Juan C.
- [17] Prenatal exome sequencing identifies compound heterozygous GLB1-mutations in a fetus with ultrasound abnormalitiesEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 173 - 173Beck-Woedl, S.Grundmann-Hauser, K.Buchert-Lo, R.Dufke, A.Sturm, M.Riess, O.Hoopmann, M.Haack, T.Stampfer, M.
- [18] Exome Sequencing Identifies Bag3 Gene Mutation in Dilated CardiomyopathyCIRCULATION, 2013, 128 (22)Begay, ReneMeyers, Valerie D.Graw, SharonSlavov, DobromirBoyer, PhilipMestroni, LuisaTaylor, MatthewFeldman, Arthur
- [19] Identification of a compound heterozygous inactivating ABCC8 gene mutation responsible for young-onset diabetes with exome sequencingJOURNAL OF DIABETES INVESTIGATION, 2020, 11 (02) : 333 - 336Matsutani, NorihikoFuruta, HirotoMatsuno, ShoheiOku, YoshimasaMorita, ShuheiUraki, ShinsukeDoi, AsakoFuruta, MachiIwakura, HiroshiAriyasu, HiroyukiNishi, MasahiroAkamizu, Takashi
- [20] Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinomaNATURE, 2011, 469 (7331) : 539 - 542Varela, IgnacioTarpey, PatrickRaine, KeiranHuang, DachuanOng, Choon KiatStephens, PhilipDavies, HelenJones, DavidLin, Meng-LayTeague, JonBignell, GrahamButler, AdamCho, JuokDalgliesh, Gillian L.Galappaththige, DanushkaGreenman, ChrisHardy, ClaireJia, MingmingLatimer, CalliLau, King WaiMarshall, JohnMcLaren, StuartMenzies, AndrewMudie, LauraStebbings, LucyLargaespada, David A.Wessels, L. F. A.Richard, StephaneKahnoski, Richard J.Anema, JohnTuveson, David A.Perez-Mancera, Pedro A.Mustonen, VilleFischer, AndrejAdams, David J.Rust, AlistairChan-on, WarapornSubimerb, ChutimaDykema, KarlFurge, KyleCampbell, Peter J.Teh, Bin TeanStratton, Michael R.Futreal, P. Andrew