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

Integrating 730,947 exome sequences with clinical literature improves gene discovery

将730,947个外显子组序列与临床文献整合,可提高基因发现率。

Guez, Jeremy; Goodrich, Julia K; Moldovan, Mikhail A; Chao, Katherine R; Kar, Prathitha; Panchal, Ruchit; Wilson, Michael W; Laricchia, Kristen M; Rohlicek, Greg; Biba, Dmitry; Marten, Daniel; He, Qin; Darnowsky, Philip W; Grant, Riley; Weisburd, Ben; Baxter, Samantha M; Nadeau, Joshua; Lu, Wenhan; Jahl, Steve; Parsa, Sophie; Lamane, Abdallah; DiTroia, Stephanie; Fu, Jack; Zhao, Xuefang; Alarmani, Elissa; Tolonen, Charlotte; Novod, Sam; Bryant, Sam; Stevens, Christine; Chapman, Sinéad B; Cusick, Caroline; Vittal, Christopher; Gauthier, Laura D; Goldstein, Jacqueline I; Goldstein, Daniel; King, Daniel; Poterba, Timothy; Tiao, Grace; Tranchero, Matteo; Lotter, William; MacArthur, Daniel G; Brand, Harrison; Seplyarskiy, Vladimir; Koch, Evan; Talkowski, Michael E; Solomonson, Matthew; Neale, Benjamin M; O'Donnell-Luria, Anne; Finucane, Hilary K; Sunyaev, Shamil R; Daly, Mark J; Rehm, Heidi L; Samocha, Kaitlin E; Karczewski, Konrad J

insilicoSV: a flexible grammar-based framework for structural variant simulation and placement

insilicoSV:一个灵活的、基于语法的结构变体模拟和定位框架

Battistella, Enzo; Jiang, Nick; Rohlicek, Chris; Shlyakhter, Ilya; Popic, Victoria

The Impact of the COVID-19 Pandemic on the Epidemiology and Management Strategies of Forearm Fractures in Children-a Retrospective Study

COVID-19 大流行对儿童前臂骨折流行病学和治疗策略的影响——一项回顾性研究

David, Vlad Laurentiu; Garjoaba, Cristina Ana-Maria; Popescu-Rohlicek, Diana; Szentpeteri, Larisa Anca; Ciornei, Bogdan; Popoiu, Calin Marius; Boia, Eugen Sorin

Cortical alterations associated with executive function deficits in youth with a congenital heart defect

先天性心脏病青少年执行功能缺陷相关的皮质改变

Abboud, Fatme; Easson, Kaitlyn; Ehrler, Melanie; Ziolkowski, Justine; Rohlicek, Charles V; Latal, Bea; Saint-Martin, Christine; Gilbert, Guillaume; Greutmann, Matthias; Devenyi, Gabriel A; Tuura, Ruth O'Gorman; Chakravarty, M Mallar; Brossard-Racine, Marie

Cue: a deep-learning framework for structural variant discovery and genotyping

Cue:一种用于结构变异发现和基因分型的深度学习框架

Popic, Victoria; Rohlicek, Chris; Cunial, Fabio; Hajirasouliha, Iman; Meleshko, Dmitry; Garimella, Kiran; Maheshwari, Anant

Sex-Specific Cerebral Blood Flow Alterations in Youth Operated for Congenital Heart Disease

先天性心脏病手术青少年脑血流的性别特异性改变

Easson, Kaitlyn; Gilbert, Guillaume; Gauthier, Claudine; Rohlicek, Charles V; Saint-Martin, Christine; Brossard-Racine, Marie

A comparison of altered white matter microstructure in youth born with congenital heart disease or born preterm

比较先天性心脏病患儿和早产儿白质微结构改变情况

Easson, Kaitlyn; Khairy, May; Rohlicek, Charles V; Saint-Martin, Christine; Gilbert, Guillaume; Nguyen, Kim-Anh; Luu, Thuy Mai; Couture, Élise; Nuyt, Anne-Monique; Wintermark, Pia; Deoni, Sean C L; Descoteaux, Maxime; Brossard-Racine, Marie

White matter microstructure is differently associated with executive functioning in youth born with congenital heart disease and youth born preterm

先天性心脏病患儿和早产儿的白质微结构与执行功能之间的关联存在差异。

Easson, Kaitlyn; Khairy, May; Rohlicek, Charles V; Gilbert, Guillaume; Majnemer, Annette; Nguyen, Kim-Anh; Luu, Thuy Mai; Couture, Élise; Nuyt, Anne-Monique; Deoni, Sean C L; Descoteaux, Maxime; Brossard-Racine, Marie

Altered myelination in youth born with congenital heart disease

先天性心脏病患儿的髓鞘形成异常

Easson, Kaitlyn; Gilbert, Guillaume; Rohlicek, Charles V; Saint-Martin, Christine; Descoteaux, Maxime; Deoni, Sean C L; Brossard-Racine, Marie

Altered resting state functional connectivity in youth with congenital heart disease operated during infancy

婴儿期接受手术的先天性心脏病青少年静息态功能连接的改变

Enguix, Vincente; Easson, Kaitlyn; Gilbert, Guillaume; Saint-Martin, Christine; Rohlicek, Charles; Luck, David; Lodygensky, Gregory Anton; Brossard-Racine, Marie