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

Scaling genomic reanalysis to unlock diagnoses and transform rare disease care

扩大基因组再分析规模,以突破诊断难题,变革罕见病治疗。

Rockowitz, Shira; Shao, Wanqing; French, Courtney; Truong, Tina K; Hagen, Jacob; McGonigle, Rylee; Geltzeiler, Alexa; Sheidley, Beth; Smith, Lacey; D'Gama, Alissa M; Irons, Mira; Chou, Janet; Stoler, Joan; Kritzer, Amy; Rodan, Lance; Shimamura, Akiko; Bodamer, Olaf; Sacharow, Stephanie; Soul, Janet S; Srivastava, Siddharth; Kennedy, Amy Roberts; Abu-El-Haija, Aya; Lai, Abbe; Olson, Heather; Juusola, Jane; Ryan, Erin; Friedman, Bethany; Singh, Anupama; Li, Cliff; Mallik, Rittika; Strickland, Gwendolyn; Prinzing, Gillian; Mo, Alisa; O'Donnell-Luria, Anne; Bolton, Jeff; Boone, Philip M; Brucker, William; Duyzend, Michael; Mahida, Sonal; Miller, David T; Omorodion, Jacklyn; Petit, Jeanette; Picker, Jonathan; Poduri, Annapurna; Carlston, Colleen; Wojcik, Monica H; Sliz, Piotr; Chung, Wendy K

Common and rare genetic variants explain distinct diagnostic variance in pediatric attention deficit hyperactivity disorder

常见和罕见的基因变异解释了儿童注意力缺陷多动障碍的不同诊断差异

Arnett, Anne B; Koesterer, Ryan; Tovar, Paulina Gonzalez; O'Connell, Mia; Patel, Soleha; Zhang, Han; French, Courtney E; Rockowitz, Shira; Flannick, Jason; Doan, Ryan

scDown: A Pipeline for Single-Cell RNA-Seq Downstream Analysis

scDown:单细胞RNA测序下游分析流程

Sun, Liang; Ma, Qianyi; Cai, Chunhui; Labaf, Maryam; Jain, Ashish; Dias, Caroline; Rockowitz, Shira; Sliz, Piotr

Retrospective Cohort Analysis of Clinical, Molecular, and Histopathologic Characteristics of 275 Patients With Nemaline Myopathy

对275例线粒体肌病患者的临床、分子和组织病理学特征进行回顾性队列分析

Hildebrandt, Clara; Genetti, Casie A; Logvinenko, Tanya; Win, Wathone; Barraza-Flores, Pamela; Hayes, Leslie H; Rockowitz, Shira; Lehtokari, Vilma-Lotta; Iannaccone, Susan T; Darras, Basil T; Topaloglu, Haluk; Wallgren-Pettersson, Carina; Beggs, Alan H

Chromosome 4 Duplication Associated with Strabismus Leads to Gene Expression Changes in iPSC-Derived Cortical Neurons

与斜视相关的 4 号染色体重复导致 iPSC 衍生的皮质神经元基因表达发生变化

Mayra Martinez-Sanchez, William Skarnes, Ashish Jain, Sampath Vemula, Liang Sun, Shira Rockowitz, Mary C Whitman

Finding buried genetic test results in the electronic health record is inefficient and variable across institutions

在电子健康记录中查找隐藏的基因检测结果效率低下,而且不同机构之间的差异也很大。

Veatch, Olivia J; Mathew, Jomol; Rockowitz, Shira; Baldridge, Dustin; Wetzel, Alyssa; Niarchou, Maria; Clarke, Megan; Shankar, Prabhu; Shankar, Suma; Cohen, Julie S; German, Kendell; Berger, Seth; Sellitto, Angela; Oh, Inez Y; Raizada, Rashi; Sliz, Piotr; Soby, Selvin; Kaplarevic, Mihailo; Doherty, Dan; Gropman, Andrea; Smith-Hicks, Constance; Neul, Jeffrey L; Lanzotti, Virginia; Darbro, Benjamin; Chang, Qiang; Sahin, Mustafa; Chopra, Maya

Rare Structural Variants Uncovered by Optical Genome Mapping in Multisystem Inflammatory Syndrome in Children (MIS-C)

光学基因组图谱揭示儿童多系统炎症综合征 (MIS-C) 中的罕见结构变异

Brownstein, Catherine A; van der Made, Caspar I; Cabral, Kristin; Rockowitz, Shira; Kang, Donghun; Schieck, Maximilian; Pang, Andy Wing Chun; Robinson, Jeffrey M; Hastie, Alex R; Chaubey, Alka; Hoischen, Alexander; Beggs, Alan H; Adebamowo, Clement A; Andalibi, Ali; Bacanu, Silviu-Alin; Bafna, Vineet; Bahl, Justin; Barseghyan, Hayk; Beggs, Alan; Burdette, Laurie; Butte, Manish; Constantoulakis, Pantelis; Crandall, Keith A; Dehkordi, Siavash R; Dennis, Megan; Fang, Gang; Fedrigo, Olivier; Finlay, Darren; Goldman, Michael A; Gurusamy, Umamaheswaran; Hayes, Vanessa; Hickey, Glenn; Hoischen, Alexander; Illig, Thomas; Ioannidis, Alexander; Jarvis, Erich; Koizumi, Naoru; Kolhe, Ravindra; Laamarti, Meriem; Labranche, Celia; Leibel, Sandra; Levy, Brynn; Loose, Matthew; Mello, Claudio; Nasir, Jamal; Phung, Thuy L; Rao, Chethan P Venkatasubba; Ross, Ted; Sahajpal, Nikhil S; Shamanna, Rashmi K; Soto, Daniela C; Trablesi, Amir; Wang, Zi-Xuan; Williams, Sion Llewelyn; Wright, Victoria; Zhao, Hua; Zody, Michael

Genome Sequencing After Exome Sequencing in Pediatric Epilepsy

儿童癫痫外显子组测序后的基因组测序

D'Gama, Alissa M; Shao, Wanqing; Smith, Lacey; Koh, Hyun Yong; Davis, Maya; Koh, Julia; Oby, Brandon T; Urzua, Cesar I; Sheidley, Beth Rosen; Rockowitz, Shira; Poduri, Annapurna

Cell-type-specific effects of autism-associated 15q duplication syndrome in the human brain

自闭症相关15q重复综合征对人脑细胞类型特异性的影响

Dias, Caroline; Mo, Alisa; Cai, Chunhui; Sun, Liang; Cabral, Kristen; Brownstein, Catherine A; Rockowitz, Shira; Walsh, Christopher A

Basophils Play a Protective Role in the Recovery of Skin Barrier Function from Mechanical Injury in Mice

嗜碱性粒细胞在小鼠机械损伤后皮肤屏障功能的恢复中发挥保护作用

Strakosha, Maria; Vega-Mendoza, Daniela; Kane, Jennifer; Jain, Ashish; Sun, Liang; Rockowitz, Shira; Elkins, Megan; Miyake, Kensuke; Chou, Janet; Karasuyama, Hajime; Geha, Raif S; Leyva-Castillo, Juan-Manuel