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Identification of Six Pathogenic Genes for Tibetan Familial Ventricular Septal Defect by Whole Exome Sequencing 期刊论文
JOURNAL OF SURGICAL RESEARCH, 2024, 卷号: 296
作者:  Zhang, Xiaohui;  Zhen, Da;  Yi, Faling;  Zhang, Tianyi;  Li, Xuemei;  Wang, Yuhe;  Li, Xuguang;  Sheng, Yemeng;  Liu, Xiaoli;  Jin, Tianbo;  He, Yongjun
收藏  |  浏览/下载：8/0  |  提交时间：2024/03/01
Familial  Tibetan population  Ventricular septal defect  Whole exome sequencing  
NOTCH2, ATIC, MRI1, SLC6A13, ATP13A2 Genetic Variations are Associated with Ventricular Septal Defect in the Chinese Tibetan Population Through Whole-Exome Sequencing 期刊论文
PHARMACOGENOMICS & PERSONALIZED MEDICINE, 2023, 卷号: 16
作者:  Zhang, Xiaohui;  Zhen, Da;  Li, Xuemei;  Yi, Faling;  Zhang, Zhanhao;  Yang, Wei;  Li, Xuguang;  Sheng, Yemeng;  Liu, Xiaoli;  Jin, Tianbo;  He, Yongjun
收藏  |  浏览/下载：2/0  |  提交时间：2024/03/01
ventricular septal defect  genes  genetic variation  whole-exome sequencing  
Integrated mutational landscape analysis of uterine leiomyosarcomas 期刊论文
Proceedings of the National Academy of Sciences of the United States of America, 2021, 卷号: 118, 期号: 15
作者:  Choi J.;  Manzano A.;  Dong W.;  Bellone S.;  Bonazzoli E.;  Zammataro L.;  Yao X.;  Deshpande A.;  Zaidi S.;  Guglielmi A.;  Gnutti B.;  Nagarkatti N.;  Tymon-Rosario J.R.;  Harold J.;  Mauricio D.;  Zeybek B.;  Menderes G.;  Altwerger G.;  Jeong K.;  Zhao S.;  Buza N.;  Hui P.;  Ravaggi A.;  Bignotti E.;  Romani C.;  Todeschini P.;  Zanotti L.;  Odicino F.;  Pecorelli S.;  Ardighieri L.;  Bilguvar K.;  Quick C.M.;  Silasi D.-A.;  Huang G.S.;  Andikyan V.;  Clark M.;  Ratner E.;  Azodi M.;  Imielinski M.;  Schwartz P.E.;  Alexandrov L.B.;  Lifton R.P.;  Schlessinger J.;  Santin A.D.
收藏  |  浏览/下载：48/0  |  提交时间：2021/05/24
Early role for a Na+,K+-ATPase (ATP1A3) in brain development 期刊论文
Proceedings of the National Academy of Sciences of the United States of America, 2021, 卷号: 118, 期号: 25
作者:  Smith R.S.;  Florio M.;  Akula S.K.;  Neil J.E.;  Wang Y.;  Sean Hill R.;  Goldman M.;  Mullally C.D.;  Reed N.;  Bello-Espinosa L.;  Flores-Sarnat L.;  Monteiro F.P.;  Erasmo C.B.;  Vairo F.P.E.;  Morava E.;  James Barkovich A.;  Gonzalez-Heydrich J.;  Brownstein C.A.;  McCarroll S.A.;  Walsh C.A.
收藏  |  浏览/下载：23/0  |  提交时间：2022/02/22
Reduced levels of prostaglandin I2 synthase: A distinctive feature of the cancer-free trichothiodystrophy 期刊论文
Proceedings of the National Academy of Sciences of the United States of America, 2021, 卷号: 118, 期号: 26
作者:  Lombardi A.;  Arseni L.;  Carriero R.;  Compe E.;  Botta E.;  Ferri D.;  Uggè M.;  Biamonti G.;  Peverali F.A.;  Bione S.;  Orioli D.
收藏  |  浏览/下载：27/0  |  提交时间：2022/02/22
Developmental and sexual dimorphic atlas of the prenatal mouse external genitalia at the single-cell level 期刊论文
Proceedings of the National Academy of Sciences of the United States of America, 2021, 卷号: 118, 期号: 25
作者:  Amato C.M.;  Yao H.H.-C.
收藏  |  浏览/下载：0/0  |  提交时间：2022/02/22
Germ-line mutations in WDR77 predispose to familial papillary thyroid cancer 期刊论文
Proceedings of the National Academy of Sciences of the United States of America, 2021, 卷号: 118, 期号: 31
作者:  Zhao Y.;  Yu T.;  Sun J.;  Wang F.;  Cheng C.;  He S.;  Chen L.;  Xie D.;  Fu L.;  Guan X.;  Yan A.;  Li Y.;  Miao G.;  Zhu X.
收藏  |  浏览/下载：73/0  |  提交时间：2022/02/22
Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference 期刊论文
Nature Communications, 2021, 卷号: 12, 期号: 1
作者:  Takayama J.;  Tadaka S.;  Yano K.;  Katsuoka F.;  Gocho C.;  Funayama T.;  Makino S.;  Okamura Y.;  Kikuchi A.;  Sugimoto S.;  Kawashima J.;  Otsuki A.;  Sakurai-Yageta M.;  Yasuda J.;  Kure S.;  Kinoshita K.;  Yamamoto M.;  Tamiya G.
收藏  |  浏览/下载：49/0  |  提交时间：2022/02/22
EAGER: Development of a tool to rapidly and cost-effectively sequence the exome of any organism 项目
项目编号: 2016160, 资助机构: US-NSF, 2020-04/3
负责人:  Jonathan Puritz
收藏  |  浏览/下载：14/0  |  提交时间：2021/10/12
Somatic evolution and global expansion of an ancient transmissible cancer lineage 期刊论文
Science, 2019, 卷号: 365, 期号: 6452
作者:  Baez-Ortega A.;  Gori K.;  Strakova A.;  Allen J.L.;  Allum K.M.;  Bansse-Issa L.;  Bhutia T.N.;  Bisson J.L.;  Briceño C.;  Domracheva A.C.;  Corrigan A.M.;  Cran H.R.;  Crawford J.T.;  Davis E.;  De Castro K.F.;  De Nardi A.B.;  De Vos A.P.;  Keenan L.D.;  Donelan E.M.;  Espinoza Huerta A.R.;  Faramade I.A.;  Fazil M.;  Fotopoulou E.;  Fruean S.N.;  Gallardo-Arrieta F.;  Glebova O.;  Gouletsou P.G.;  Häfelin Manrique R.F.;  Henriques J.J.G.P.;  Horta R.S.;  Ignatenko N.;  Kane Y.;  King C.;  Koenig D.;  Krupa A.;  Kruzeniski S.J.;  Kwon Y.-M.;  Lanza-Perea M.;  Lazyan M.;  Lopez Quintana A.M.;  Losfelt T.;  Marino G.;  Castañeda S.M.;  Martínez-López M.F.;  Meyer M.;  Migneco E.J.;  Nakanwagi B.;  Neal K.B.;  Neunzig W.;  Leathlobhair M.N.;  Nixon S.J.;  Ortega-Pacheco A.;  Pedraza-Ordoñez F.;  Peleteiro M.C.;  Polak K.;  Pye R.J.;  Reece J.F.;  Gutierrez J.R.;  Sadia H.;  Schmeling S.K.;  Shamanova O.;  Sherlock A.G.;  Stammnitz M.;  Steenland-Smit A.E.;  Svitich A.;  Tapia Martínez L.J.;  Ngoka I.T.;  Torres C.G.;  Tudor E.M.;  Van Der Wel M.G.;  Viţălaru B.A.;  Vural S.A.;  Walkinton O.;  Wang J.;  Wehrle-Martinez A.S.;  Widdowson S.A.E.;  Stratton M.R.;  Alexandrov L.B.;  Martincorena I.;  Murchison E.P.
收藏  |  浏览/下载：24/0  |  提交时间：2022/01/14