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

SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns

SeqFirst:为危重症新生儿构建公平获得精准基因诊断的机会

Wenger, Tara L; Scott, Abbey; Kruidenier, Lukas; Sikes, Megan; Keefe, Alexandra; Buckingham, Kati J; Marvin, Colby T; Shively, Kathryn M; Bacus, Tamara; Sommerland, Olivia M; Anderson, Kailyn; Gildersleeve, Heidi; Davis, Chayna J; Love-Nichols, Jamie; MacDuffie, Katherine E; Miller, Danny E; Yu, Joon-Ho; Snook, Amy; Johnson, Britt; Veenstra, David L; Parish-Morris, Julia; McWalter, Kirsty; Retterer, Kyle; Copenheaver, Deborah; Friedman, Bethany; Juusola, Jane; Ryan, Erin; Varga, Renee; Doherty, Daniel A; Dipple, Katrina; Chong, Jessica X; Kruszka, Paul; Bamshad, Michael J

Clinical utility of exome sequencing in infantile heart failure

外显子组测序在婴儿心脏衰竭中的临床应用

Ritter, Alyssa; Bedoukian, Emma; Berger, Justin H; Copenheaver, Deborah; Gray, Christopher; Krantz, Ian; Izumi, Kosuke; Juusola, Jane; Leonard, Jacqueline; Lin, Kimberly; Medne, Livija; Santani, Avni; Skraban, Cara; Yang, Sandra; Ahrens-Nicklas, Rebecca C

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield

基于表型特征对危重新生儿进行前瞻性筛选,开展快速外显子组测序,可获得较高的诊断率。

Gubbels, Cynthia S; VanNoy, Grace E; Madden, Jill A; Copenheaver, Deborah; Yang, Sandra; Wojcik, Monica H; Gold, Nina B; Genetti, Casie A; Stoler, Joan; Parad, Richard B; Roumiantsev, Sergei; Bodamer, Olaf; Beggs, Alan H; Juusola, Jane; Agrawal, Pankaj B; Yu, Timothy W