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

X and Y gene dosage effects are primary contributors to human sexual dimorphism: The case of height

X 和 Y 基因剂量效应是人类性二态性的主要因素:以身高为例

Berry, Alexander S F; Finucane, Brenda M; Myers, Scott M; Martin, Christa L; Ledbetter, David H; Willard, Huntington F; Oetjens, Matthew T

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

The 2023 Distinguished Speakers Symposium: Closing Remarks

2023年杰出演讲者研讨会:闭幕致辞

Villani, Rehan M; McKenzie, Maddison E; Davidson, Aimee L; Spurdle, Amanda B; Willard, Huntington F; Wonkam, Ambroise

The 2023 Distinguished Speakers Symposium: The future of human genetics and genomics

2023年杰出演讲者研讨会:人类遗传学和基因组学的未来

Aoki, Koh; Yano, Kentaro; Suzuki, Ayako; Kawamura, Shingo; Sakurai, Nozomu; Suda, Kunihiro; Kurabayashi, Atsushi; Suzuki, Tatsuya; Tsugane, Taneaki; Watanabe, Manabu; Ooga, Kazuhide; Torii, Maiko; Narita, Takanori; Shin-I, Tadasu; Kohara, Yuji; Yamamoto, Naoki; Takahashi, Hideki; Watanabe, Yuichiro; Egusa, Mayumi; Kodama, Motoichiro; Ichinose, Yuki; Kikuchi, Mari; Fukushima, Sumire; Okabe, Akiko; Arie, Tsutomu; Sato, Yuko; Yazawa, Katsumi; Satoh, Shinobu; Omura, Toshikazu; Ezura, Hiroshi; Shibata, Daisuke; Willard, Huntington F

The 2023 Distinguished Speakers Symposium: The future of human genetics and genomics

2023年杰出演讲者研讨会:人类遗传学和基因组学的未来

Dikmen, Serdal; Mateescu, Raluca G; Elzo, Mauricio A; Hansen, Peter J; Willard, Huntington F

Clinical validation of genomic functional screen data: Analysis of observed BRCA1 variants in an unselected population cohort

基因组功能筛查数据的临床验证:对未经选择的人群队列中观察到的BRCA1变异进行分析

Schiabor Barrett, Kelly M; Masnick, Max; Hatchell, Kathryn E; Savatt, Juliann M; Banet, Natalie; Buchanan, Adam; Willard, Huntington F

Clinical outcomes of a genomic screening program for actionable genetic conditions

针对可干预遗传疾病的基因组筛查项目的临床结果

Buchanan, Adam H; Lester Kirchner, H; Schwartz, Marci L B; Kelly, Melissa A; Schmidlen, Tara; Jones, Laney K; Hallquist, Miranda L G; Rocha, Heather; Betts, Megan; Schwiter, Rachel; Butry, Loren; Lazzeri, Amanda L; Frisbie, Lauren R; Rahm, Alanna Kulchak; Hao, Jing; Willard, Huntington F; Martin, Christa L; Ledbetter, David H; Williams, Marc S; Sturm, Amy C

Exome Sequencing-Based Screening for BRCA1/2 Expected Pathogenic Variants Among Adult Biobank Participants

基于外显子组测序的BRCA1/2预期致病变异筛查在成人生物样本库参与者中开展

Manickam, Kandamurugu; Buchanan, Adam H; Schwartz, Marci L B; Hallquist, Miranda L G; Williams, Janet L; Rahm, Alanna Kulchak; Rocha, Heather; Savatt, Juliann M; Evans, Alyson E; Butry, Loren M; Lazzeri, Amanda L; Lindbuchler, D'Andra M; Flansburg, Carroll N; Leeming, Rosemary; Vogel, Victor G; Lebo, Matthew S; Mason-Suares, Heather M; Hoskinson, Derick C; Abul-Husn, Noura S; Dewey, Frederick E; Overton, John D; Reid, Jeffrey G; Baras, Aris; Willard, Huntington F; McCormick, Cara Z; Krishnamurthy, Sarath B; Hartzel, Dustin N; Kost, Korey A; Lavage, Daniel R; Sturm, Amy C; Frisbie, Lauren R; Person, T Nate; Metpally, Raghu P; Giovanni, Monica A; Lowry, Lacy E; Leader, Joseph B; Ritchie, Marylyn D; Carey, David J; Justice, Anne E; Kirchner, H Lester; Faucett, W Andrew; Williams, Marc S; Ledbetter, David H; Murray, Michael F

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

CLARITY挑战赛是一项旨在制定临床基因组测序结果分析、解释和报告最佳实践标准的国际合作项目。

Brownstein, Catherine A; Beggs, Alan H; Homer, Nils; Merriman, Barry; Yu, Timothy W; Flannery, Katherine C; DeChene, Elizabeth T; Towne, Meghan C; Savage, Sarah K; Price, Emily N; Holm, Ingrid A; Luquette, Lovelace J; Lyon, Elaine; Majzoub, Joseph; Neupert, Peter; McCallie, David Jr; Szolovits, Peter; Willard, Huntington F; Mendelsohn, Nancy J; Temme, Renee; Finkel, Richard S; Yum, Sabrina W; Medne, Livija; Sunyaev, Shamil R; Adzhubey, Ivan; Cassa, Christopher A; de Bakker, Paul I W; Duzkale, Hatice; Dworzyński, Piotr; Fairbrother, William; Francioli, Laurent; Funke, Birgit H; Giovanni, Monica A; Handsaker, Robert E; Lage, Kasper; Lebo, Matthew S; Lek, Monkol; Leshchiner, Ignaty; MacArthur, Daniel G; McLaughlin, Heather M; Murray, Michael F; Pers, Tune H; Polak, Paz P; Raychaudhuri, Soumya; Rehm, Heidi L; Soemedi, Rachel; Stitziel, Nathan O; Vestecka, Sara; Supper, Jochen; Gugenmus, Claudia; Klocke, Bernward; Hahn, Alexander; Schubach, Max; Menzel, Mortiz; Biskup, Saskia; Freisinger, Peter; Deng, Mario; Braun, Martin; Perner, Sven; Smith, Richard J H; Andorf, Janeen L; Huang, Jian; Ryckman, Kelli; Sheffield, Val C; Stone, Edwin M; Bair, Thomas; Black-Ziegelbein, E Ann; Braun, Terry A; Darbro, Benjamin; DeLuca, Adam P; Kolbe, Diana L; Scheetz, Todd E; Shearer, Aiden E; Sompallae, Rama; Wang, Kai; Bassuk, Alexander G; Edens, Erik; Mathews, Katherine; Moore, Steven A; Shchelochkov, Oleg A; Trapane, Pamela; Bossler, Aaron; Campbell, Colleen A; Heusel, Jonathan W; Kwitek, Anne; Maga, Tara; Panzer, Karin; Wassink, Thomas; Van Daele, Douglas; Azaiez, Hela; Booth, Kevin; Meyer, Nic; Segal, Michael M; Williams, Marc S; Tromp, Gerard; White, Peter; Corsmeier, Donald; Fitzgerald-Butt, Sara; Herman, Gail; Lamb-Thrush, Devon; McBride, Kim L; Newsom, David; Pierson, Christopher R; Rakowsky, Alexander T; Maver, Aleš; Lovrečić, Luca; Palandačić, Anja; Peterlin, Borut; Torkamani, Ali; Wedell, Anna; Huss, Mikael; Alexeyenko, Andrey; Lindvall, Jessica M; Magnusson, Måns; Nilsson, Daniel; Stranneheim, Henrik; Taylan, Fulya; Gilissen, Christian; Hoischen, Alexander; van Bon, Bregje; Yntema, Helger; Nelen, Marcel; Zhang, Weidong; Sager, Jason; Zhang, Lu; Blair, Kathryn; Kural, Deniz; Cariaso, Michael; Lennon, Greg G; Javed, Asif; Agrawal, Saloni; Ng, Pauline C; Sandhu, Komal S; Krishna, Shuba; Veeramachaneni, Vamsi; Isakov, Ofer; Halperin, Eran; Friedman, Eitan; Shomron, Noam; Glusman, Gustavo; Roach, Jared C; Caballero, Juan; Cox, Hannah C; Mauldin, Denise; Ament, Seth A; Rowen, Lee; Richards, Daniel R; San Lucas, F Anthony; Gonzalez-Garay, Manuel L; Caskey, C Thomas; Bai, Yu; Huang, Ying; Fang, Fang; Zhang, Yan; Wang, Zhengyuan; Barrera, Jorge; Garcia-Lobo, Juan M; González-Lamuño, Domingo; Llorca, Javier; Rodriguez, Maria C; Varela, Ignacio; Reese, Martin G; De La Vega, Francisco M; Kiruluta, Edward; Cargill, Michele; Hart, Reece K; Sorenson, Jon M; Lyon, Gholson J; Stevenson, David A; Bray, Bruce E; Moore, Barry M; Eilbeck, Karen; Yandell, Mark; Zhao, Hongyu; Hou, Lin; Chen, Xiaowei; Yan, Xiting; Chen, Mengjie; Li, Cong; Yang, Can; Gunel, Murat; Li, Peining; Kong, Yong; Alexander, Austin C; Albertyn, Zayed I; Boycott, Kym M; Bulman, Dennis E; Gordon, Paul M K; Innes, A Micheil; Knoppers, Bartha M; Majewski, Jacek; Marshall, Christian R; Parboosingh, Jillian S; Sawyer, Sarah L; Samuels, Mark E; Schwartzentruber, Jeremy; Kohane, Isaac S; Margulies, David M