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

Precisely defining disease variant effects in CRISPR-edited single cells

精确定义 CRISPR 编辑的单细胞中的疾病变异效应

Baglaenko, Yuriy; Mu, Zepeng; Curtis, Michelle; Mire, Hafsa M; Jayanthi, Vidyashree; Al Suqri, Majd; Liu, Cassidy; Agnew, Ryan; Nathan, Aparna; Mah-Som, Annelise Yoo; Liu, David R; Newby, Gregory A; Raychaudhuri, Soumya

Identifying genetic variants that influence the abundance of cell states in single-cell data

识别影响单细胞数据中细胞状态丰度的遗传变异

Rumker, Laurie; Sakaue, Saori; Reshef, Yakir; Kang, Joyce B; Yazar, Seyhan; Alquicira-Hernandez, Jose; Valencia, Cristian; Lagattuta, Kaitlyn A; Mah-Som, Annelise; Nathan, Aparna; Powell, Joseph E; Loh, Po-Ru; Raychaudhuri, Soumya

Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency

人类PLCG2单倍体不足会导致一种新型的自然杀伤细胞免疫缺陷

Alinger, Joshua B; Mace, Emily M; Porter, Justin R; Mah-Som, Annelise Y; Daugherty, Allyssa L; Li, Stephanie; Throm, Allison A; Pingel, Jeanette T; Saucier, Nermina; Yao, Albert; Chinn, Ivan K; Lupski, James R; Ehlayel, Mohammad; Keller, Michael; Bowman, Greg R; Cooper, Megan A; Orange, Jordan S; French, Anthony R

Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly

RBBP5 功能丧失导致与小头畸形相关的综合征性神经发育障碍

Yue Huang, Kristy L Jay, Alden Yen-Wen Huang, Jijun Wan, Sharayu V Jangam, Odelia Chorin, Annick Rothschild, Ortal Barel, Milena Mariani, Maria Iascone, Han Xue; Undiagnosed Diseases Network; Jing Huang, Cyril Mignot, Boris Keren, Virginie Saillour, Annelise Y Mah-Som, Stephanie Sacharow, Farrah Raj

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP

一种与 VCP 致病变异相关的常染色体显性儿童期发病疾病

Annelise Y Mah-Som, Jil Daw, Diana Huynh, Mengcheng Wu, Benjamin C Creekmore, William Burns, Steven A Skinner, Øystein L Holla, Marie F Smeland, Marc Planes, Kevin Uguen, Sylvia Redon, Tatjana Bierhals, Tasja Scholz, Jonas Denecke, Martin A Mensah, Henrike L Sczakiel, Heidelis Tichy, Sarah Verheyen,

Identifying genetic variants that influence the abundance of cell states in single-cell data

识别影响单细胞数据中细胞状态丰度的遗传变异

Rumker, Laurie; Sakaue, Saori; Reshef, Yakir; Kang, Joyce B; Yazar, Seyhan; Alquicira-Hernandez, Jose; Valencia, Cristian; Lagattuta, Kaitlyn A; Mah-Som, Annelise; Nathan, Aparna; Powell, Joseph E; Loh, Po-Ru; Raychaudhuri, Soumya

Reliance on Cox10 and oxidative metabolism for antigen-specific NK cell expansion

抗原特异性NK细胞扩增依赖于Cox10和氧化代谢

Annelise Y Mah-Som ,Molly P Keppel ,Joshua M Tobin ,Ana Kolicheski ,Nermina Saucier ,Veronika Sexl ,Anthony R French ,Julia A Wagner ,Todd A Fehniger ,Megan A Cooper

New Cohort of Patients With CEDNIK Syndrome Expands the Phenotypic and Genotypic Spectra

新一批CEDNIK综合征患者扩展了表型和基因型谱

Mah-Som, Annelise Y; Skrypnyk, Cristina; Guerin, Andrea; Seroor Jadah, Raafat Hammad; Vardhan, Vinayak Nivrutti; McKinstry, Robert C; Shinawi, Marwan S

MicroRNA-142 Is Critical for the Homeostasis and Function of Type 1 Innate Lymphoid Cells

MicroRNA-142 对 1 型固有淋巴细胞的稳态和功能至关重要

Melissa M Berrien-Elliott ,Yaping Sun ,Carly Neal ,Aaron Ireland ,Maria C Trissal ,Ryan P Sullivan ,Julia A Wagner ,Jeffrey W Leong ,Pamela Wong ,Annelise Y Mah-Som ,Terrence N Wong ,Timothy Schappe ,Catherine R Keppel ,Victor S Cortez ,Efstathios G Stamatiades ,Ming O Li ,Marco Colonna ,Daniel C Link ,Anthony R French ,Megan A Cooper ,Wei-Le Wang ,Mark P Boldin ,Pavan Reddy ,Todd A Fehniger

Calcium carbonate nanoparticles stimulate tumor metabolic reprogramming and modulate tumor metastasis

碳酸钙纳米粒子刺激肿瘤代谢重编程并调节肿瘤转移

Avik Som, Ramesh Raliya, Krishna Paranandi, Rachel A High, Nathan Reed, Scott C Beeman, Matthew Brandenburg, Gail Sudlow, Julie L Prior, Walter Akers, Annelise Y Mah-Som, Lemoyne Habimana-Griffin, Joel Garbow, Joseph E Ippolito, Mark D Pagel, Pratim Biswas, Samuel Achilefu