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

A novel spliceosomopathy caused by de novo SF3B3 variants.

一种由新生SF3B3变异引起的新型剪接体病。

Musante Luciana, Janos Pavel, Pianigiani Giulia, Cappelli Sara, Longo Alessandra, Alves Carolina, Schwaibold Eva Mc, Wagner Matias, Costain Gregory, Fridriksdottir Run, Stefansson Kari, Sulem Patrick, Lichtenbelt Klaske D, van Binsbergen Ellen, van Jaarsveld Richard H, Brusco Alfredo, Pavinato Lisa, Biamino Elisa, Spano Alessandra, Hildebrandt Clara C, Chan Yee-Ming, Groopman Emily, Berkenstadt Michal, Koboldt Daniel, Williamson Rachel, Brunner Han G, Vissers Lisenka Elm, Torring Pernille M, Hao Qin, Gelb Bruce D, Goldmuntz Elizabeth, Reed Kristen, Bedoukian Emma C, Vecchio Davide, Salzano Emanuela, Piccione Maria, Zanus Caterina, Mio Catia, Eichler Evan E, Wang Tianyun, Patterson Wesley G, Butler Kameryn M, Piotrowski Mattie, Mercier Sandra, Cogné Benjamin, Wentzensen Ingrid M, Buratti Emanuele, Magistrato Alessandra, Faletra Flavio

Cancer risk in adults with pathogenic germline variants in RAS/MAPK genes using genomic ascertainment

利用基因组检测方法评估携带 RAS/MAPK 基因致病性种系变异的成年人的癌症风险

Kim, Jung; Ney, Gina; Frone, Megan N; Haley, Jeremy S; Ramos, Mark L; Mirshahi, Uyenlinh L; Astiazaran-Symonds, Esteban; Shandrina, Mariya; Urban, Gretchen; Rao, H Shanker; Stahl, Rick; Golden, Alicia; Yohe, Marielle E; Gross, Andrea M; Ding, Yi; Carey, David J; Gelb, Bruce D; Stewart, Douglas R

ROBO2 Variants Associated With Atrial Septal Defect Define a Novel Regulatory Element

与房间隔缺损相关的ROBO2变异定义了一种新的调控元件

Kim, Seong Won; Parfenov, Michael; Rodriguez-Murillo, Laura; Conner, David A; Sharma, Arun; Peter, Inga; Xiao, Feng; Layton, Olivia; Tai, Angela; Ward, Tarsha; Wasson, Lauren K; Gorham, Joshua M; Mazaika, Erica; Lagomarsino, Valentina N; Young-Pearse, Tracy L; Goldmuntz, Elizabeth; Wakimoto, Hiroko; Agopian, A J; McKean, David M; DePalma, Steven R; Pu, William T; Seidman, Christine E; Gelb, Bruce D; Seidman, Jonathan G

Prothrombin G20210A and Factor V Leiden Variants Are Not Associated With Thrombotic Events in Congenital Heart Disease: An Observational Trial

凝血酶原 G20210A 和 V 因子 Leiden 变异与先天性心脏病血栓事件无关:一项观察性试验

Ladha, Feria A; VanderPluym, Christina; Mondragon-Estrada, Enrique; Avillach, Paul; Brueckner, Martina; Chung, Wendy K; Cnota, James F; Gelb, Bruce D; Lewis, Matthew; Liu, Cong; Roberts, Amy E; Seidman, Christine E; Tristani-Firouzi, Martin; Wagner, Michael; Morton, Sarah U; Newburger, Jane W

Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features

线粒体疾病诊断延迟的驱动因素:未能识别典型特征

Tinker, Rory J; Jacob, Neil; Syed, Mohammad Ghouse; Kelkar, Janhawi; Donnelly, Colleen; Elsharkawi, Ibrahim; Ganesh, Jaya; Gelb, Bruce D; Pejaver, Vikas; Kozicz, Tamas; Morava, Eva

Feeder-Free Generation of Lymphatic Endothelial Cells from Human Induced Pluripotent Stem Cells

利用人诱导多能干细胞在无饲养层条件下生成淋巴内皮细胞

Prasad, Aditi; Patel, Shrey; Ng, Simon; Liu, Clifford Z; Gelb, Bruce D

Machine learning to infer neurocognitive testing scores among adolescents and young adults with congenital heart disease

利用机器学习推断患有先天性心脏病的青少年和年轻成人的神经认知测试分数

Hussain, Mohammad Arafat; He, Sheng; Adams, Heather R; Anagnoustou, Evdokia; Bellinger, David C; Brueckner, Martina; Chung, Wendy K; Cleveland, John; Gelb, Bruce D; Goldmuntz, Elizabeth; Hagler, Donald J Jr; Huang, Hao; McQuillen, Patrick; Miller, Thomas A; Norris-Brilliant, Ami; Porter, George A Jr; Thomas, Nina; Tivarus, Madalina E; Xu, Duan; Shen, Yufeng; Newburger, Jane W; Grant, P Ellen; Morton, Sarah U; Ou, Yangming

Dysregulated TGFβ-ERK Signaling Drives Aberrant Extracellular Matrix Production in Noonan Syndrome-Associated Pulmonary Valve Stenosis

TGFβ-ERK信号通路失调驱动努南综合征相关肺动脉瓣狭窄中异常的细胞外基质生成

Liu, Clifford Z; Patel, Shrey; Sidoli, Simone; Prasad, Aditi; Charytonowicz, Daniel; Mazine, Amine; Mikryukov, Alexander A; Abdul-Ghafar, Jamshid; Kahn, Elizabeth S; Young, Dejauwne; Porter, George A Jr; Katzman, Philip J; Sanders, Stephen P; Carreon, Chrystalle Katte; Hubmacher, Dirk; Lincoln, Joy; Keller, Gordon M; Chung, Wendy K; Sebra, Robert; Gelb, Bruce D

Toward governance of artificial intelligence in pediatric healthcare

迈向儿科医疗保健领域人工智能治理

Richter, Felix; Holmes, Emma; Richter, Florian; Guttmann, Katherine; Duong, Son Q; Gangadharan, Sandeep; Schadt, Eric E; Salmasian, Hojjat; Gelb, Bruce D; Glicksberg, Benjamin S

Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemia.

范可尼贫血核心复合体蛋白 FAAP100 缺乏会导致严重的范可尼贫血

Harrison Benjamin A, Mizrahi-Powell Emma, Pappas John, Thomas Kristen, Vasishta Subrahmanya, Hebbar Shripad, Shukla Anju, Nayak Shalini S, Truong Tina K, Woroch Amy, Kharbutli Yara, Gelb Bruce D, Mintz Cassie S, Evrony Gilad D, Smogorzewska Agata