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

Genotype-First Analysis in an Unselected Health System-Based Population and Phenotypic Severity of COL4A5 Variants

基于未经筛选的健康系统人群的基因型优先分析及COL4A5变异的表型严重程度

Zellers, McKenzie; Solanki, Kaushal; Kelly, Melissa A; Murphy, Karyn M; Retterer, Kyle; Kirchner, H Lester; Bucaloiu, Ion Dan; Moore, Bryn; Mirshahi, Tooraj; Chang, Alexander R

A scalable approach for genomic-first rare disorder detection in a healthcare-based population

一种面向医疗保健人群的、可扩展的、以基因组为先导的罕见病检测方法

Torene, Rebecca I; Murphy, Karyn Meltz; Brandt, Tracy; Kelly, Melissa A; Willard, Huntington F; Retterer, Kyle

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

Phenotypic findings associated with variation in elastin

与弹性蛋白变异相关的表型发现

Justice, Anne; Kelly, Melissa A; Bellus, Gary; Green, Joshua D; Zaidi, Raza; Kerrins, Taylor; Josyula, Navya; Luperchio, Teresa R; Kozel, Beth A; Williams, Marc S

Genetic testing and counseling for hypertrophic cardiomyopathy: An evidence-based practice resource of the National Society of Genetic Counselors

肥厚型心肌病的基因检测和咨询:美国国家遗传咨询师协会循证实践资源

Miller, Erin M; Brown, Emily; Christian, Susan; Kelly, Melissa A; Knight, Linda M; Saberi, Sara; Rigelsky, Christina; Ingles, Jodie

Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant.

携带新生 PAK2 变异的个体出现 Knobloch 综合征 2 型的表型扩展

Werren Elizabeth A, Kalsner Louisa, Ewald Jessica M, Peracchio Michael, King Cameron, Vats Purva, Audano Peter A, Robinson Peter N, Adams Mark D, Kelly Melissa A, Matson Adam P

Bidirectional Risk Modulator and Modifier Variant of Dilated and Hypertrophic Cardiomyopathy in BAG3

BAG3基因中扩张型和肥厚型心肌病的双向风险调节因子和修饰因子变异体

Park, Joseph; Levin, Michael G; Zhang, David; Reza, Nosheen; Mead, Jonathan O; Carruth, Eric D; Kelly, Melissa A; Winters, Alex; Kripke, Colleen M; Judy, Renae L; Damrauer, Scott M; Owens, Anjali T; Bastarache, Lisa; Verma, Anurag; Kinnamon, Daniel D; Hershberger, Ray E; Ritchie, Marylyn D; Rader, Daniel J

Genetic sex validation for sample tracking in next-generation sequencing clinical testing

下一代测序临床检测中样本追踪的基因性别验证

Hu, Jianhong; Korchina, Viktoriya; Zouk, Hana; Harden, Maegan V; Murdock, David; Macbeth, Alyssa; Harrison, Steven M; Lennon, Niall; Kovar, Christie; Balasubramanian, Adithya; Zhang, Lan; Chandanavelli, Gauthami; Pasham, Divya; Rowley, Robb; Wiley, Ken; Smith, Maureen E; Gordon, Adam; Jarvik, Gail P; Sleiman, Patrick; Kelly, Melissa A; Bland, Harris T; Murugan, Mullai; Venner, Eric; Boerwinkle, Eric; Prows, Cynthia; Mahanta, Lisa; Rehm, Heidi L; Gibbs, Richard A; Muzny, Donna M

Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype

27名具有神经发育迟缓表型的个体中,转录共调节因子ZMYM3存在有害的、改变蛋白质的变异

Hiatt, Susan M; Trajkova, Slavica; Sebastiano, Matteo Rossi; Partridge, E Christopher; Abidi, Fatima E; Anderson, Ashlyn; Ansar, Muhammad; Antonarakis, Stylianos E; Azadi, Azadeh; Bachmann-Gagescu, Ruxandra; Bartuli, Andrea; Benech, Caroline; Berkowitz, Jennifer L; Betti, Michael J; Brusco, Alfredo; Cannon, Ashley; Caron, Giulia; Chen, Yanmin; Cochran, Meagan E; Coleman, Tanner F; Crenshaw, Molly M; Cuisset, Laurence; Curry, Cynthia J; Darvish, Hossein; Demirdas, Serwet; Descartes, Maria; Douglas, Jessica; Dyment, David A; Elloumi, Houda Zghal; Ermondi, Giuseppe; Faoucher, Marie; Farrow, Emily G; Felker, Stephanie A; Fisher, Heather; Hurst, Anna C E; Joset, Pascal; Kelly, Melissa A; Kmoch, Stanislav; Leadem, Benjamin R; Lyons, Michael J; Macchiaiolo, Marina; Magner, Martin; Mandrile, Giorgia; Mattioli, Francesca; McEown, Megan; Meadows, Sarah K; Medne, Livija; Meeks, Naomi J L; Montgomery, Sarah; Napier, Melanie P; Natowicz, Marvin; Newberry, Kimberly M; Niceta, Marcello; Noskova, Lenka; Nowak, Catherine B; Noyes, Amanda G; Osmond, Matthew; Prijoles, Eloise J; Pugh, Jada; Pullano, Verdiana; Quélin, Chloé; Rahimi-Aliabadi, Simin; Rauch, Anita; Redon, Sylvia; Reymond, Alexandre; Schwager, Caitlin R; Sellars, Elizabeth A; Scheuerle, Angela E; Shukarova-Angelovska, Elena; Skraban, Cara; Stolerman, Elliot; Sullivan, Bonnie R; Tartaglia, Marco; Thiffault, Isabelle; Uguen, Kevin; Umaña, Luis A; van Bever, Yolande; van der Crabben, Saskia N; van Slegtenhorst, Marjon A; Waisfisz, Quinten; Washington, Camerun; Rodan, Lance H; Myers, Richard M; Cooper, Gregory M