日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

STEVE: Single-cell Transcriptomics Expression Visualization and Evaluation

STEVE:单细胞转录组表达可视化和评估

Torbenson, Elijah; Ma, Xiao; Lin, Jhih-Rong; Garry, Daniel J; Jameson, Stephen C; Zhang, Zhengdong; Niedernhofer, Laura J; Zhang, Lei; Li, Meiyi; Dong, Xiao

Deletion size and background genetic variation shape congenital heart disease phenotypes in 3,016 individuals with 22q11.2 deletion syndrome

22q11.2缺失综合征患者的缺失大小和背景遗传变异影响先天性心脏病表型,共纳入3016例患者。

Lin, Jhih-Rong; Miller, Daniella; Luong, Dana; Nelson, Tanner; Crowley, T Blaine; Tran, Oanh T; Thiruvahindrapuram, Bhooma; Hajianpour, Amirhossein; Campbell, Linda; Busa, Tiffany; Heine-Suñer, Damian; García-Miñaúr, Sixto; Fernández, Luis; Murphy, Kieran C; Murphy, Declan; Hawula, Wanda; Angkustsiri, Kathleen; Shashi, Vandana; Schoch, Kelly; Bearden, Carrie E; Tomita Mitchell, Aoy; Mitchell, Michael E; Carmel, Miri; Weizman, Abraham; Michaelovsky, Elena; Gothelf, Doron; van den Bree, Marianne B M; Owen, Michael J; Vorstman, Jacob A S; Boot, Erik; Vingerhoets, Claudia; van Amelsvoort, Therese; Swillen, Ann; Breckpot, Jeroen; Vermeesch, Joris R; Devriendt, Koen; Schneider, Maude; Eliez, Stephan; Digilio, M Cristina; Unolt, Marta; Putotto, Carolina; Marino, Bruno; Pontillo, Maria; Armando, Marco; Vicari, Stefano; Repetto, Gabriela M; Kates, Wendy R; Shprintzen, Robert J; Gur, Raquel E; Zackai, Elaine H; Goldmuntz, Elizabeth; Wang, Tao; Raj, Srilakshmi; Emanuel, Beverly S; McDonald-McGinn, Donna M; Scherer, Stephen C; Bassett, Anne S; Zhang, Zhengdong D; Morrow, Bernice E

Ultrarare Variants in DNA Damage Repair Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome or Acute Behavioral Regression in Neurodevelopmental Disorders

儿童急性起病神经精神综合征或神经发育障碍急性行为倒退中DNA损伤修复基因的超罕见变异

Cunningham, Janet L; Frankovich, Jennifer; Dubin, Robert A; Pedrosa, Erika; Baykara, Refia Nur; Schlenk, Noelle Cathleen; Maqbool, Shahina B; Dolstra, Hedwig; Marino, Jacqueline; Edinger, Jacob; Shea, Julia M; Laje, Gonzalo; Swagemakers, Sigrid M A; Sinnadurai, Siamala; Zhang, Zhengdong D; Lin, Jhih-Rong; van der Spek, Peter J; Lachman, Herbert M; Lachman, Herbert M

The Somatic Aneuploidy Landscape of Adult Glia Reveals 16p as a Hotspot and Differentiates Mosaicism in Normal Glia from Chromosomal Instability in Glioblastoma

成年神经胶质细胞体细胞非整倍体图谱揭示16p为热点区域,并区分正常神经胶质细胞中的嵌合现象与胶质母细胞瘤中的染色体不稳定性

Montagna, Cristina; Albert, Olivia; Sun, Shixiang; Lin, Jhih-Rong; Lee, Moonsook; Chan, Chang; Maslov, Alexander; Ellerby, Lisa; Huttner, Anita; Zhang, Zhengdong; Vijg, Jan

Rare coding variants as risk modifiers of the 22q11.2 deletion implicate postnatal cortical development in syndromic schizophrenia

罕见编码变异作为 22q11.2 缺失的风险修饰因子,提示出生后皮质发育与综合征型精神分裂症有关

Lin, Jhih-Rong; Zhao, Yingjie; Jabalameli, M Reza; Nguyen, Nha; Mitra, Joydeep; Swillen, Ann; Vorstman, Jacob A S; Chow, Eva W C; van den Bree, Marianne; Emanuel, Beverly S; Vermeesch, Joris R; Owen, Michael J; Williams, Nigel M; Bassett, Anne S; McDonald-McGinn, Donna M; Gur, Raquel E; Bearden, Carrie E; Morrow, Bernice E; Lachman, Herbert M; Zhang, Zhengdong D

Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS

TBX1 网络中的染色质调节剂导致 22q11.2DS 患者发生圆锥动脉心脏缺陷的风险

Yingjie Zhao, Yujue Wang, Lijie Shi, Donna M McDonald-McGinn, T Blaine Crowley, Daniel E McGinn, Oanh T Tran, Daniella Miller, Jhih-Rong Lin, Elaine Zackai, H Richard Johnston, Eva W C Chow, Jacob A S Vorstman, Claudia Vingerhoets, Therese van Amelsvoort, Doron Gothelf, Ann Swillen, Jeroen Breckpot,

Rapid digital pathology of H&E-stained fresh human brain specimens as an alternative to frozen biopsy

对 H&E 染色的新鲜人脑标本进行快速数字病理学检查,作为冷冻活检的替代方法

Bhaskar Jyoti Borah, Yao-Chen Tseng, Kuo-Chuan Wang, Huan-Chih Wang, Hsin-Yi Huang, Koping Chang, Jhih Rong Lin, Yi-Hua Liao, Chi-Kuang Sun

Mitochondrial DNA Copy Number Is Associated With Treatment Response and Cognitive Function in Euthymic Bipolar Patients Receiving Valproate

线粒体DNA拷贝数与接受丙戊酸治疗的双相情感障碍患者的治疗反应和认知功能相关

Chang, Cheng-Chen; Chen, Po See; Lin, Jhih-Rong; Chen, Yi-An; Liu, Chin-San; Lin, Ta-Tsung; Chang, Hui Hua

Rare genetic coding variants associated with human longevity and protection against age-related diseases

与人类长寿和抵御衰老相关疾病相关的罕见基因编码变异

Lin, Jhih-Rong; Sin-Chan, Patrick; Napolioni, Valerio; Torres, Guillermo G; Mitra, Joydeep; Zhang, Quanwei; Jabalameli, M Reza; Wang, Zhen; Nguyen, Nha; Gao, Tina; Laudes, Matthias; Görg, Siegfried; Franke, Andre; Nebel, Almut; Greicius, Michael D; Atzmon, Gil; Ye, Kenny; Gorbunova, Vera; Ladiges, Warren C; Shuldiner, Alan R; Niedernhofer, Laura J; Robbins, Paul D; Milman, Sofiya; Suh, Yousin; Vijg, Jan; Barzilai, Nir; Zhang, Zhengdong D

Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

22q11.2缺失存在时,精神分裂症风险的遗传因素

Cleynen, Isabelle; Engchuan, Worrawat; Hestand, Matthew S; Heung, Tracy; Holleman, Aaron M; Johnston, H Richard; Monfeuga, Thomas; McDonald-McGinn, Donna M; Gur, Raquel E; Morrow, Bernice E; Swillen, Ann; Vorstman, Jacob A S; Bearden, Carrie E; Chow, Eva W C; van den Bree, Marianne; Emanuel, Beverly S; Vermeesch, Joris R; Warren, Stephen T; Owen, Michael J; Chopra, Pankaj; Cutler, David J; Duncan, Richard; Kotlar, Alex V; Mulle, Jennifer G; Voss, Anna J; Zwick, Michael E; Diacou, Alexander; Golden, Aaron; Guo, Tingwei; Lin, Jhih-Rong; Wang, Tao; Zhang, Zhengdong; Zhao, Yingjie; Marshall, Christian; Merico, Daniele; Jin, Andrea; Lilley, Brenna; Salmons, Harold I; Tran, Oanh; Holmans, Peter; Pardinas, Antonio; Walters, James T R; Demaerel, Wolfram; Boot, Erik; Butcher, Nancy J; Costain, Gregory A; Lowther, Chelsea; Evers, Rens; van Amelsvoort, Therese A M J; van Duin, Esther; Vingerhoets, Claudia; Breckpot, Jeroen; Devriendt, Koen; Vergaelen, Elfi; Vogels, Annick; Crowley, T Blaine; McGinn, Daniel E; Moss, Edward M; Sharkus, Robert J; Unolt, Marta; Zackai, Elaine H; Calkins, Monica E; Gallagher, Robert S; Gur, Ruben C; Tang, Sunny X; Fritsch, Rosemarie; Ornstein, Claudia; Repetto, Gabriela M; Breetvelt, Elemi; Duijff, Sasja N; Fiksinski, Ania; Moss, Hayley; Niarchou, Maria; Murphy, Kieran C; Prasad, Sarah E; Daly, Eileen M; Gudbrandsen, Maria; Murphy, Clodagh M; Murphy, Declan G; Buzzanca, Antonio; Fabio, Fabio Di; Digilio, Maria C; Pontillo, Maria; Marino, Bruno; Vicari, Stefano; Coleman, Karlene; Cubells, Joseph F; Ousley, Opal Y; Carmel, Miri; Gothelf, Doron; Mekori-Domachevsky, Ehud; Michaelovsky, Elena; Weinberger, Ronnie; Weizman, Abraham; Kushan, Leila; Jalbrzikowski, Maria; Armando, Marco; Eliez, Stéphan; Sandini, Corrado; Schneider, Maude; Béna, Frédérique Sloan; Antshel, Kevin M; Fremont, Wanda; Kates, Wendy R; Belzeaux, Raoul; Busa, Tiffany; Philip, Nicole; Campbell, Linda E; McCabe, Kathryn L; Hooper, Stephen R; Schoch, Kelly; Shashi, Vandana; Simon, Tony J; Tassone, Flora; Arango, Celso; Fraguas, David; García-Miñaúr, Sixto; Morey-Canyelles, Jaume; Rosell, Jordi; Suñer, Damià H; Raventos-Simic, Jasna; Epstein, Michael P; Williams, Nigel M; Bassett, Anne S