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

A Proposed North American Approach for Genetic Testing of Individuals at Risk for Malignant Hyperthermia

北美地区针对恶性高热风险人群的基因检测方案建议

Riazi, Sheila; Watt, Stacey; Plester, Jennifer; Biesecker, Leslie G

A spatial transcriptomics dataset of pancreas sections in normal glucose tolerance and type 2 diabetic donors.

正常葡萄糖耐量和 2 型糖尿病供体胰腺切片的空间转录组学数据集

Howell Nick, Weiss Zoe, Bonnycastle Lori L, Grenko Caleb M, Randazzo Davide, Dampier Christopher H, Sinha Neelam, Narisu Narisu, Swift Amy J, Erdos Michael R, Biesecker Leslie G, Collins Francis S, Robertson Catherine C, Taylor D Leland

Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria

对其他计算工具的校准扩展了 ClinGen 基于 PP3/BP4 标准的变异分类推荐选项

Bergquist, Timothy; Stenton, Sarah L; Nadeau, Emily A W; Byrne, Alicia B; Greenblatt, Marc S; Harrison, Steven M; Tavtigian, Sean V; O'Donnell-Luria, Anne; Biesecker, Leslie G; Radivojac, Predrag; Brenner, Steven E; Pejaver, Vikas

Isolated lateralized overgrowth and the need for tumor screening: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)

孤立性侧向过度生长与肿瘤筛查的必要性:美国医学遗传学和基因组学学会 (ACMG) 的临床实践资源

Erwin, Angelika L; El Haija, Aya Abu; Bennett, James T; Biesecker, Leslie G; Deardorff, Matthew A; Hathaway, Evan R; Li, Marilyn M; Martinez-Agosto, Julian; Walsh, Michael; Kalish, Jennifer M

Air, surface, and wastewater surveillance of SARS-CoV-2; a multimodal evaluation of COVID-19 detection in a built environment

对空气、表面和废水中的SARS-CoV-2进行监测;在建筑环境中对COVID-19检测进行多模式评估

Olsen Martinez, Andreas; Dietz, Leslie G; Parhizkar, Hooman; Kaya, Devrim; Northcutt, Dale; Horve, Patrick F; Stenson, Jason; Harry, Michael; Mickle, David; Jaaf, Shana; Hachimi, Oumaima; Kanalos, Casey; Martinotti, Isaac; Bowles, Garis; Fretz, Mark; Kelly, Christine; Radniecki, Tyler S; Van Den Wymelenberg, Kevin

A process inspired by fractals for embedding digital codes into additively manufactured components for supply chain security

一种受分形启发,将数字代码嵌入增材制造组件以保障供应链安全的工艺

Nemati, Saber; Mahmoudi, Ali; Ham, Kyungmin; Siemers, Tie; Guo, Shengmin; Gutekunst, Josephine; Schulz, Joachim; Taylor, Ian; Maasberg, Michele; Butler, Leslie G

Tumour spectrum in AKT1-related Proteus syndrome: a systematic review of clinical reports and series

AKT1相关Proteus综合征的肿瘤谱:临床报告和系列研究的系统评价

Rostagni, Olivia M; Early, Charlotte Lr; Hodges, Mia B; Obasohan, Justice O; Sapp, Julie C; Livinski, Alicia A; Biesecker, Leslie G; Ours, Christopher A

Calibrating a functional assay for variant classification in RYR1-related malignant hyperthermia susceptibility

校准用于RYR1相关恶性高热易感性变异分类的功能性检测

Ying, Evan Z; Douglass, Amber; Hawari, Marwan A; Groom, Linda; Stowell, Kathryn; Dirksen, Robert T; Johnston, Jennifer J; Biesecker, Leslie G

Symposium report-ethical and social considerations regarding return of secondary findings in atomic bomb survivors

研讨会报告——关于向原子弹幸存者报告次要发现的伦理和社会考量

Yoshida, Noriaki; Stewart, Douglas R; Uchimura, Arikuni; Arita, Ken-Ichi; Bombard, Yvonne; Frone, Megan; Hinoi, Takao; Kamiya, Kenji; Katamine, Shigeru; Kayukawa, Junji; Kodama, Kazunori; Miller, David T; Miura, Kiyonori; Muto, Kaori; Nagami, Fuji; Nakagawa, Hidewaki; Noda, Asao; Ohishi, Waka; Tanabe, Osamu; Terao, Chikashi; Rajaraman, Preetha; Kato, Kazuto; Biesecker, Leslie G

Randomized Study of Metformin and Intensive Lifestyle Intervention on Cancer Incidence over 21 Years of Follow-up in the Diabetes Prevention Program

糖尿病预防计划中,二甲双胍联合强化生活方式干预对癌症发病率的随机研究(随访21年)

Heckman-Stoddard, Brandy M; Crandall, Jill P; Edelstein, Sharon L; Prorok, Philip C; Dabelea, Dana; Hamman, Richard; Hazuda, Helen P; Horton, Edward; Hoskin, Mary A; Perloff, Marjorie; Bowers, Anna; Knowler, William C; Ford, Leslie G; Temprosa, Marinella