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

Data-driven consideration of genetic disorders for global genomic newborn screening programs

基于数据驱动的遗传疾病考量,用于全球新生儿基因组筛查项目

Minten, Thomas; Bick, Sarah; Adelson, Sophia; Gehlenborg, Nils; Amendola, Laura M; Boemer, François; Coffey, Alison J; Encina, Nicolas; Ferlini, Alessandra; Kirschner, Janbernd; Russell, Bianca E; Servais, Laurent; Sund, Kristen L; Taft, Ryan J; Tsipouras, Petros; Zouk, Hana; Bick, David; Green, Robert C; Gold, Nina B

Long-Term Health Outcomes of Individuals With Pseudodeficiency Alleles in IDUA May Inform Newborn Screening Practices for Mucopolysaccharidosis Type I

携带IDUA假性缺陷等位基因个体的长期健康结局或可为I型粘多糖贮积症的新生儿筛查提供参考。

Grady, Lauren O; Zoltick, Emilie S; Zouk, Hana; He, Wei; Perez, Emma; Clarke, Lorne; Gold, Jessica; Strong, Alanna; Sahai, Inderneel; Yeo, Julie; Green, Robert C; Karaa, Amel; Gold, Nina B

The BabySeq Project: A clinical trial of genome sequencing in a diverse cohort of infants

BabySeq项目:一项针对不同类型婴儿的基因组测序临床试验

Smith, Hadley Stevens; Zettler, Bethany; Genetti, Casie A; Hickingbotham, Madison R; Coleman, Tanner F; Lebo, Matthew; Nagy, Anna; Zouk, Hana; Mahanta, Lisa; Christensen, Kurt D; Pereira, Stacey; Shah, Nidhi D; Gold, Nina B; Walmsley, Sheyenne; Edwards, Sarita; Homayouni, Ramin; Krasan, Graham P; Hakonarson, Hakon; Horowitz, Carol R; Gelb, Bruce D; Korf, Bruce R; McGuire, Amy L; Holm, Ingrid A; Green, Robert C

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

The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

多基因检测和基因组检测中报告的意义未明变异(VUS)现状:是时候改变了

Rehm, Heidi L; Alaimo, Joseph T; Aradhya, Swaroop; Bayrak-Toydemir, Pinar; Best, Hunter; Brandon, Rhonda; Buchan, Jillian G; Chao, Elizabeth C; Chen, Elaine; Clifford, Jacob; Cohen, Ana S A; Conlin, Laura K; Das, Soma; Davis, Kyle W; Del Gaudio, Daniela; Del Viso, Florencia; DiVincenzo, Christina; Eisenberg, Marcia; Guidugli, Lucia; Hammer, Monia B; Harrison, Steven M; Hatchell, Kathryn E; Dyer, Lindsay Havens; Hoang, Lily U; Holt, James M; Jobanputra, Vaidehi; Karbassi, Izabela D; Kearney, Hutton M; Kelly, Melissa A; Kelly, Jacob M; Kluge, Michelle L; Komala, Timothy; Kruszka, Paul; Lau, Lynette; Lebo, Matthew S; Marshall, Christian R; McKnight, Dianalee; McWalter, Kirsty; Meng, Yan; Nagan, Narasimhan; Neckelmann, Christian S; Neerman, Nir; Niu, Zhiyv; Paolillo, Vitoria K; Paolucci, Sarah A; Perry, Denise; Pesaran, Tina; Radtke, Kelly; Rasmussen, Kristen J; Retterer, Kyle; Saunders, Carol J; Spiteri, Elizabeth; Stanley, Christine; Szuto, Anna; Taft, Ryan J; Thiffault, Isabelle; Thomas, Brittany C; Thomas-Wilson, Amanda; Thorpe, Erin; Tidwell, Timothy J; Towne, Meghan C; Zouk, Hana

Familial Hypercholesterolemia in the Electronic Medical Records and Genomics Network: Prevalence, Penetrance, Cardiovascular Risk, and Outcomes After Return of Results

电子病历和基因组学网络中的家族性高胆固醇血症:患病率、外显率、心血管风险和结果返回后的情况

Dikilitas, Ozan; Sherafati, Alborz; Saadatagah, Seyedmohammad; Satterfield, Benjamin A; Kochan, David C; Anderson, Katherine C; Chung, Wendy K; Hebbring, Scott J; Salvati, Zachary M; Sharp, Richard R; Sturm, Amy C; Gibbs, Richard A; Rowley, Robb; Venner, Eric; Linder, Jodell E; Jones, Laney K; Perez, Emma F; Peterson, Josh F; Jarvik, Gail P; Rehm, Heidi L; Zouk, Hana; Roden, Dan M; Williams, Marc S; Manolio, Teri A; Kullo, Iftikhar J

Phenotypes of undiagnosed adults with actionable OTC and GLA variants

未确诊成人患者的表型,这些患者具有可干预的OTC和GLA变异

Gold, Jessica I; Madhavan, Sarina; Park, Joseph; Zouk, Hana; Perez, Emma; Strong, Alanna; Drivas, Theodore G; Karaa, Amel; Yudkoff, Marc; Rader, Daniel; Green, Robert C; Gold, Nina B

Genetic Sex Validation for Sample Tracking in Clinical Testing

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

Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases

遗传性癌症基因致病变异与多种疾病的关联

Zeng, Chenjie; Bastarache, Lisa A; Tao, Ran; Venner, Eric; Hebbring, Scott; Andujar, Justin D; Bland, Sarah T; Crosslin, David R; Pratap, Siddharth; Cooley, Ayorinde; Pacheco, Jennifer A; Christensen, Kurt D; Perez, Emma; Zawatsky, Carrie L Blout; Witkowski, Leora; Zouk, Hana; Weng, Chunhua; Leppig, Kathleen A; Sleiman, Patrick M A; Hakonarson, Hakon; Williams, Marc S; Luo, Yuan; Jarvik, Gail P; Green, Robert C; Chung, Wendy K; Gharavi, Ali G; Lennon, Niall J; Rehm, Heidi L; Gibbs, Richard A; Peterson, Josh F; Roden, Dan M; Wiesner, Georgia L; Denny, Joshua C

Bleeding Risk With Combination Intrapleural Fibrinolytic and Enzyme Therapy in Pleural Infection: An International, Multicenter, Retrospective Cohort Study

胸膜感染患者接受胸腔内溶栓和酶联合治疗的出血风险:一项国际多中心回顾性队列研究

Akulian, Jason; Bedawi, Eihab O; Abbas, Hawazin; Argento, Christine; Arnold, David T; Balwan, Akshu; Batra, Hitesh; Uribe Becerra, Juan Pablo; Belanger, Adam; Berger, Kristin; Burks, Allen Cole; Chang, Jiwoon; Chrissian, Ara A; DiBardino, David M; Fuentes, Xavier Fonseca; Gesthalter, Yaron B; Gilbert, Christopher R; Glisinski, Kristen; Godfrey, Mark; Gorden, Jed A; Grosu, Horiana; Gupta, Mridul; Kheir, Fayez; Ma, Kevin C; Majid, Adnan; Maldonado, Fabien; Maskell, Nick A; Mehta, Hiren; Mercer, Joshua; Mullon, John; Nelson, Darlene; Nguyen, Elaine; Pickering, Edward M; Puchalski, Jonathan; Reddy, Chakravarthy; Revelo, Alberto E; Roller, Lance; Sachdeva, Ashutosh; Sanchez, Trinidad; Sathyanarayan, Priya; Semaan, Roy; Senitko, Michal; Shojaee, Samira; Story, Ryan; Thiboutot, Jeffrey; Wahidi, Momen; Wilshire, Candice L; Yu, Diana; Zouk, Aline; Rahman, Najib M; Yarmus, Lonny