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

Evaluation of CYP2C19 Clinical Decision Support Alerts to Guide P2Y(12) Inhibitor Prescribing

评估 CYP2C19 临床决策支持警报在指导 P2Y(12) 抑制剂处方中的应用

Springer, Ashley N; Alicea, Leah A; Gafari, Yemi; Smith, Tayler B; Lynch, Sheryl; Breman, Amy M; Hodge, Jennelle C; Pratt, Victoria M; Powell, Nicholas R; Kreutz, Rolf P; Kobold, Daniel P; Eadon, Michael T; Tillman, Emma M; Shugg, Tyler; Skaar, Todd C

International Society for Prenatal Diagnosis 2024 Debate 3-Cytogenetics Is a Dinosaur and Should Be Replaced by Molecular Technologies

国际产前诊断学会 2024 年辩论 3:细胞遗传学已过时,应被分子技术取代

Akkari, Yassmine M N; Talkowski, Michael E; Breman, Amy M

Research-Based Whole Genome Sequencing Identifies Biallelic Loss of Function Variants in DOCK3 Gene Causing DOCK3-Related Disorder: The End of a Diagnostic Journey for This Family

基于研究的全基因组测序鉴定出DOCK3基因中导致DOCK3相关疾病的双等位基因功能缺失变异:该家族的诊断之旅终于结束

Liaqat, Khurram; Treat, Kayla; Mantcheva, Lili; McLaughlin, Aaron; Breman, Amy; McPheron, Molly; Conboy, Erin; Vetrini, Francesco

Evaluating first-line genetic testing strategies for inpatients with congenital heart defects

评估先天性心脏病住院患者的一线基因检测策略

Lindstrom, Al; Breman, Amy; Fitzgerald-Butt, Sara; Helvaty, Lindsey R; Ware, Stephanie M; Helm, Benjamin M

Development of a Multifaceted Program for Pharmacogenetics Adoption at an Academic Medical Center: Practical Considerations and Lessons Learned

在学术医疗中心制定多方面药物遗传学应用方案:实践考量与经验教训

Shugg, Tyler; Tillman, Emma M; Breman, Amy M; Hodge, Jennelle C; McDonald, Christine A; Ly, Reynold C; Rowe, Elizabeth J; Osei, Wilberforce; Smith, Tayler B; Schwartz, Peter H; Callaghan, John T; Pratt, Victoria M; Lynch, Sheryl; Eadon, Michael T; Skaar, Todd C

Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure

SFTPB基因纯合子内串联重复导致新生儿呼吸衰竭

Wambach, Jennifer A; Wegner, Daniel J; Kitzmiller, Joseph; White, Frances V; Heins, Hillary B; Yang, Ping; Paul, Alexander J; Granadillo, Jorge L; Eghtesady, Pirooz; Kuklinski, Cadence; Turner, Tiffany; Fairman, Korre; Stone, Kristyne; Wilson, Theodore; Breman, Amy; Smith, Janice; Schroeder, Molly C; Neidich, Julie A; Whitsett, Jeffrey A; Cole, F Sessions

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features

杂合子功能缺失型SMC3变异与不同的生长发育特征相关。

Ansari, Morad; Faour, Kamli N W; Shimamura, Akiko; Grimes, Graeme; Kao, Emeline M; Denhoff, Erica R; Blatnik, Ana; Ben-Isvy, Daniel; Wang, Lily; Helm, Benjamin M; Firth, Helen; Breman, Amy M; Bijlsma, Emilia K; Iwata-Otsubo, Aiko; de Ravel, Thomy J L; Fusaro, Vincent; Fryer, Alan; Nykamp, Keith; Stühn, Lara G; Haack, Tobias B; Korenke, G Christoph; Constantinou, Panayiotis; Bujakowska, Kinga M; Low, Karen J; Place, Emily; Humberson, Jennifer; Napier, Melanie P; Hoffman, Jessica; Juusola, Jane; Deardorff, Matthew A; Shao, Wanqing; Rockowitz, Shira; Krantz, Ian; Kaur, Maninder; Raible, Sarah; Dortenzio, Victoria; Kliesch, Sabine; Singer-Berk, Moriel; Groopman, Emily; DiTroia, Stephanie; Ballal, Sonia; Srivastava, Siddharth; Rothfelder, Kathrin; Biskup, Saskia; Rzasa, Jessica; Kerkhof, Jennifer; McConkey, Haley; Sadikovic, Bekim; Hilton, Sarah; Banka, Siddharth; Tüttelmann, Frank; Conrad, Donald F; O'Donnell-Luria, Anne; Talkowski, Michael E; FitzPatrick, David R; Boone, Philip M

Computational pharmacogenotype extraction from clinical next-generation sequencing

从临床二代测序中提取计算药理基因型

Shugg, Tyler; Ly, Reynold C; Osei, Wilberforce; Rowe, Elizabeth J; Granfield, Caitlin A; Lynnes, Ty C; Medeiros, Elizabeth B; Hodge, Jennelle C; Breman, Amy M; Schneider, Bryan P; Sahinalp, S Cenk; Numanagić, Ibrahim; Salisbury, Benjamin A; Bray, Steven M; Ratcliff, Ryan; Skaar, Todd C

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features

杂合子功能缺失型SMC3变异与生长发育特征的变异性和不完全外显率相关。

Ansari, Morad; Faour, Kamli N W; Shimamura, Akiko; Grimes, Graeme; Kao, Emeline M; Denhoff, Erica R; Blatnik, Ana; Ben-Isvy, Daniel; Wang, Lily; Helm, Benjamin M; Firth, Helen; Breman, Amy M; Bijlsma, Emilia K; Iwata-Otsubo, Aiko; de Ravel, Thomy J L; Fusaro, Vincent; Fryer, Alan; Nykamp, Keith; Stühn, Lara G; Haack, Tobias B; Korenke, G Christoph; Constantinou, Panayiotis; Bujakowska, Kinga M; Low, Karen J; Place, Emily; Humberson, Jennifer; Napier, Melanie P; Hoffman, Jessica; Juusola, Jane; Deardorff, Matthew A; Shao, Wanqing; Rockowitz, Shira; Krantz, Ian; Kaur, Maninder; Raible, Sarah; Kliesch, Sabine; Singer-Berk, Moriel; Groopman, Emily; DiTroia, Stephanie; Ballal, Sonia; Srivastava, Siddharth; Rothfelder, Kathrin; Biskup, Saskia; Rzasa, Jessica; Kerkhof, Jennifer; McConkey, Haley; O'Donnell-Luria, Anne; Sadikovic, Bekim; Hilton, Sarah; Banka, Siddharth; Tüttelmann, Frank; Conrad, Donald; Talkowski, Michael E; FitzPatrick, David R; Boone, Philip M

A 9.8 Mb deletion at 7q31.2q31.31 downstream of FOXP2 in an individual with speech and language impairment suggests a possible positional effect

一名言语和语言障碍患者在FOXP2下游7q31.2q31.31区域存在9.8 Mb缺失,提示可能存在位置效应。

Iwata-Otsubo, Aiko; Klee, Victoria H; Ahmad, Aaliya A; Walsh, Laurence E; Breman, Amy M