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

Surgical outcomes in mediastinal mature teratoma

纵隔成熟畸胎瘤的手术治疗结果

Pulle, Mohan Venkatesh; Bhan, Anmol; Bishnoi, Sukhram; Asaf, Belal Bin; Puri, Harsh Vardhan; Bangeria, Sumit; Parikh, Manan Bharatkumar; Kumar, Arvind

Successful surgical management of capillary hemangioma of the anterior mediastinum with recurrent pleural effusion

成功手术治疗前纵隔毛细血管瘤伴复发性胸腔积液

Pulle, Mohan Venkatesh; Bhan, Anmol; Bishnoi, Sukhram; Asaf, Belal Bin; Puri, Harsh Vardhan; Bangeria, Sumit; Parikh, Manan Bharatkumar; Kumar, Arvind

Single-cell multi-omics of mitochondrial DNA disorders reveals dynamics of purifying selection across human immune cells

单细胞多组学研究线粒体DNA疾病揭示了人类免疫细胞中纯化选择的动态过程

Caleb A Lareau ,Sonia M Dubois # ,Frank A Buquicchio # ,Yu-Hsin Hsieh # ,Kopal Garg ,Pauline Kautz ,Lena Nitsch ,Samantha D Praktiknjo ,Patrick Maschmeyer ,Jeffrey M Verboon ,Jacob C Gutierrez ,Yajie Yin ,Evgenij Fiskin ,Wendy Luo ,Eleni P Mimitou ,Christoph Muus ,Rhea Malhotra ,Sumit Parikh ,Mark D Fleming ,Lena Oevermann ,Johannes Schulte ,Cornelia Eckert ,Anshul Kundaje ,Peter Smibert ,Santosha A Vardhana ,Ansuman T Satpathy ,Aviv Regev ,Vijay G Sankaran ,Suneet Agarwal ,Leif S Ludwig

Author Correction: Impact of the COVID-19 pandemic on the kidney community: lessons learned and future directions

作者更正:COVID-19 疫情对肾脏病领域的影响:经验教训与未来方向

Geetha, Duvuru; Kronbichler, Andreas; Rutter, Megan; Bajpai, Divya; Menez, Steven; Weissenbacher, Annemarie; Anand, Shuchi; Lin, Eugene; Carlson, Nicholas; Sozio, Stephen; Fowler, Kevin; Bignall, Ray; Ducharlet, Kathryn; Tannor, Elliot K; Wijewickrama, Eranga; Hafidz, Muhammad I A; Tesar, Vladimir; Hoover, Robert; Crews, Deidra; Varnell, Charles; Danziger-Isakov, Lara; Jha, Vivekanand; Mohan, Sumit; Parikh, Chirag; Luyckx, Valerie

Impact of the COVID-19 pandemic on the kidney community: lessons learned and future directions

新冠疫情对肾脏病领域的影响:经验教训与未来方向

Geetha, Duvuru; Kronbichler, Andreas; Rutter, Megan; Bajpai, Divya; Menez, Steven; Weissenbacher, Annemarie; Anand, Shuchi; Lin, Eugene; Carlson, Nicholas; Sozio, Stephen; Fowler, Kevin; Bignall, Ray; Ducharlet, Kathryn; Tannor, Elliot K; Wijewickrama, Eranga; Hafidz, Muhammad I A; Tesar, Vladimir; Hoover, Robert; Crews, Deidra; Varnell, Charles; Danziger-Isakov, Lara; Jha, Vivekanand; Mohan, Sumit; Parikh, Chirag; Luyckx, Valerie

Regulation of Liprin-α phase separation by CASK is disrupted by a mutation in its CaM kinase domain

CASK 对 Liprin-α 相分离的调节因其 CaM 激酶结构域的突变而被破坏

Debora Tibbe, Pia Ferle, Christoph Krisp, Sheela Nampoothiri, Ghayda Mirzaa, Melissa Assaf, Sumit Parikh, Kerstin Kutsche, Hans-Jürgen Kreienkamp

Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis

通过大规模功能变异分析鉴定 UBE3A 中与疾病相关的过度活跃突变

Kellan P Weston #, Xiaoyi Gao #, Jinghan Zhao, Kwang-Soo Kim, Susan E Maloney, Jill Gotoff, Sumit Parikh, Yen-Chen Leu, Kuen-Phon Wu, Marwan Shinawi, Joshua P Steimel, Joseph S Harrison, Jason J Yi

NUDT21-spanning CNVs lead to neuropsychiatric disease and altered MeCP2 abundance via alternative polyadenylation

NUDT21 跨度 CNV 通过替代多聚腺苷酸化导致神经精神疾病和改变 MeCP2 丰度

Vincenzo A Gennarino, Callison E Alcott, Chun-An Chen, Arindam Chaudhury, Madelyn A Gillentine, Jill A Rosenfeld, Sumit Parikh, James W Wheless, Elizabeth R Roeder, Dafne D G Horovitz, Erin K Roney, Janice L Smith, Sau W Cheung, Wei Li, Joel R Neilson, Christian P Schaaf, Huda Y Zoghbi

Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy

SCN8A基因复发突变在癫痫性脑病中的致病机制

Jacy L Wagnon, Bryan S Barker, James A Hounshell, Charlotte A Haaxma, Amy Shealy, Timothy Moss, Sumit Parikh, Ricka D Messer, Manoj K Patel, Miriam H Meisler