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

Genomic Screening at a Single Health System

单一医疗系统基因组筛查

Savatt, Juliann M; Kelly, Melissa A; Sturm, Amy C; McCormick, Cara Z; Williams, Marc S; Nixon, Michelle Pistner; Rolston, David D; Strande, Natasha T; Wain, Karen E; Willard, Huntington F; Faucett, W Andrew; Ledbetter, David H; Buchanan, Adam H; Martin, Christa L

Single Antisense Oligonucleotides Correct Diverse Splicing Mutations in Hotspot Exons

单反义寡核苷酸可纠正热点外显子中的多种剪接突变

Duan, Chaorui; Rong, Stephen; Buerer, Luke; Neil, Christopher R; Zhong, Yu; Lyu, Zhuoyang; Savatt, Juliann M; Strande, Natasha T; Fairbrother, William G

Increased colorectal and endometrial cancer rates in a genomically ascertained Lynch syndrome cohort

基因组确诊的林奇综合征患者队列中结直肠癌和子宫内膜癌发病率升高

Hallquist, Miranda L G; Savatt, Juliann M; Diloreto, Kristy; Johns, Alicia; Decker, Amie; Hayes, Cameron; Kelly, Melissa A; Kirchner, Henry Lester; Strande, Natasha T; Buchanan, Adam H

Performance of recommended management among pediatric patients identified through genomic screening

通过基因组筛查发现的儿科患者中推荐管理方案的执行情况

Savatt, Juliann M; Urban, Gretchen M; Floyd, Alyson E; Leitzel, Tracey; Murray, John A C; Hu, Yirui; Williams, Marc S; Buchanan, Adam H

Population Screening for Type 1 Diabetes in Pediatrics via Well-Child Visits: Barriers and Facilitators to Implementation

通过儿童健康体检对儿童进行1型糖尿病筛查:实施过程中的障碍和促进因素

Klaczko, Christie Gilbert; Walters, Nicole; Blackburn, Alexis E; Brangan, Andrew; Campbell-Salome, Gemme; Goehringer, Jessica; Ilango, Lakshmi; Nixon, Michelle Pistner; Romagnoli, Katrina M; Van Enkevort, Erin A; Savatt, Juliann M; Jones, Laney K

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature

MSL2 变异会导致神经发育综合征,表现为协调性缺乏、癫痫、特定畸形和独特的特征

Remzi Karayol, Maria Carla Borroto, Sadegheh Haghshenas, Anoja Namasivayam, Jack Reilly, Michael A Levy, Raissa Relator, Jennifer Kerkhof, Haley McConkey, Maria Shvedunova, Andrea K Petersen, Kari Magnussen, Christiane Zweier, Georgia Vasileiou, André Reis, Juliann M Savatt, Meghan R Mulligan, Louis

Clinical variants paired with phenotype: A rich resource for brain gene curation

临床变异与表型相结合:脑基因注释的丰富资源

Chopra, Maya; Savatt, Juliann M; Bingaman, Taylor I; Good, Molly E; Morgan, Alexis; Cooney, Caitlin; Rossel, Allison M; VanHoute, Bryanna; Cordova, Ineke; Mahida, Sonal; Lanzotti, Virginia; Baldridge, Dustin; Gurnett, Christina A; Piven, Joseph; Hazlett, Heather; Pomeroy, Scott L; Sahin, Mustafa; Payne, Philip R O; Riggs, Erin Rooney; Constantino, John N

Generating Clinical-Grade Gene-Disease Validity Classifications Through the ClinGen Data Platforms

通过 ClinGen 数据平台生成临床级基因-疾病有效性分类

Wright, Matt W; Thaxton, Courtney L; Nelson, Tristan; DiStefano, Marina T; Savatt, Juliann M; Brush, Matthew H; Cheung, Gloria; Mandell, Mark E; Wulf, Bryan; Ward, T J; Goehringer, Scott; O'Neill, Terry; Weller, Phil; Preston, Christine G; Keseler, Ingrid M; Goldstein, Jennifer L; Strande, Natasha T; McGlaughon, Jennifer; Azzariti, Danielle R; Cordova, Ineke; Dziadzio, Hannah; Babb, Lawrence; Riehle, Kevin; Milosavljevic, Aleksandar; Martin, Christa Lese; Rehm, Heidi L; Plon, Sharon E; Berg, Jonathan S; Riggs, Erin R; Klein, Teri E

The Brain Gene Registry: a data snapshot

脑基因登记库:数据快照

Baldridge, Dustin; Kaster, Levi; Sancimino, Catherine; Srivastava, Siddharth; Molholm, Sophie; Gupta, Aditi; Oh, Inez; Lanzotti, Virginia; Grewal, Daleep; Riggs, Erin Rooney; Savatt, Juliann M; Hauck, Rachel; Sveden, Abigail; Constantino, John N; Piven, Joseph; Gurnett, Christina A; Chopra, Maya; Hazlett, Heather; Payne, Philip R O

Expansion of the Genotypic and Phenotypic Spectrum of ASH1L-Related Syndromic Neurodevelopmental Disorder

ASH1L相关综合征性神经发育障碍的基因型和表型谱的扩展

Cordova, Ineke; Blesson, Alyssa; Savatt, Juliann M; Sveden, Abigail; Mahida, Sonal; Hazlett, Heather; Rooney Riggs, Erin; Chopra, Maya