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

Scaling genomic reanalysis to unlock diagnoses and transform rare disease care

扩大基因组再分析规模,以突破诊断难题,变革罕见病治疗。

Rockowitz, Shira; Shao, Wanqing; French, Courtney; Truong, Tina K; Hagen, Jacob; McGonigle, Rylee; Geltzeiler, Alexa; Sheidley, Beth; Smith, Lacey; D'Gama, Alissa M; Irons, Mira; Chou, Janet; Stoler, Joan; Kritzer, Amy; Rodan, Lance; Shimamura, Akiko; Bodamer, Olaf; Sacharow, Stephanie; Soul, Janet S; Srivastava, Siddharth; Kennedy, Amy Roberts; Abu-El-Haija, Aya; Lai, Abbe; Olson, Heather; Juusola, Jane; Ryan, Erin; Friedman, Bethany; Singh, Anupama; Li, Cliff; Mallik, Rittika; Strickland, Gwendolyn; Prinzing, Gillian; Mo, Alisa; O'Donnell-Luria, Anne; Bolton, Jeff; Boone, Philip M; Brucker, William; Duyzend, Michael; Mahida, Sonal; Miller, David T; Omorodion, Jacklyn; Petit, Jeanette; Picker, Jonathan; Poduri, Annapurna; Carlston, Colleen; Wojcik, Monica H; Sliz, Piotr; Chung, Wendy K

ACMG SF v3.3 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

ACMG SF v3.3 临床外显子组和基因组测序中次要发现报告列表:美国医学遗传学和基因组学学会 (ACMG) 的政策声明

Lee, Kristy; Abul-Husn, Noura S; Amendola, Laura M; Brothers, Kyle B; Chung, Wendy K; Gollob, Michael H; Gordon, Adam S; Harrison, Steven M; Hershberger, Ray E; Li, Marilyn; Ondrasik, Deborah; Richards, C Sue; Stergachis, Andrew; Stewart, Douglas R; Martin, Christa Lese; Miller, David T

Long-read sequencing is required for precision diagnosis of incontinentia pigmenti

长读长测序是色素失禁症精准诊断的必要条件。

Wojcik, Monica H; Clark, Robin D; Elias, Abdallah F; Genetti, Casie A; Madden, Jill A; Simpson, Dana; Golkar, Linda; Zalusky, Miranda P G; Miller, Angela L; Rodriguez, Araceli; Goffena, Joy; Dash, Camille A; Damaraju, Nikhita; Gibson, Sophia B; Storz, Sophie H R; Anderson, Zachary B; Gustafson, Jonas A; Thiffault, Isabelle; Farrow, Emily G; Pastinen, Tomi; Lin, Jasmine; Huang, Jennifer T; Beggs, Alan H; Agrawal, Pankaj B; Miller, David T; Miller, Danny E

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

Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia Pigmenti

长读长测序是色素失禁症精准诊断的必要条件

Wojcik, Monica H; Clark, Robin D; Elias, Abdallah F; Genetti, Casie A; Madden, Jill A; Simpson, Dana; Golkar, Linda; Zalusky, Miranda Pg; Miller, Angela L; Rodriguez, Araceli; Goffena, Joy; Dash, Camille A; Damaraju, Nikhita; Gibson, Sophia B; Storz, Sophia Hr; Anderson, Zach; Gustafson, Jonas A; Thiffault, Isabelle; Farrow, Emily G; Pastinen, Tomi; Lin, Jasmine; Huang, Jennifer; Beggs, Alan H; Agrawal, Pankaj B; Miller, David T; Miller, Danny E

Consideration of disease penetrance in the selection of secondary findings gene-disease pairs: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

在选择次要发现基因-疾病对时考虑疾病外显率:美国医学遗传学和基因组学学会 (ACMG) 的政策声明

Gordon, Adam S; Lee, Kristy; Abul-Husn, Noura S; Amendola, Laura M; Brothers, Kyle; Chung, Wendy K; Gollob, Michael H; Harrison, Steven M; Hershberger, Ray E; Richards, C Sue; Stewart, Douglas R; Martin, Christa Lese; Miller, David T

Factors influencing readmission patterns following radical cystectomy: An analysis of social determinants and discharge outcomes

影响根治性膀胱切除术后再入院模式的因素:社会决定因素和出院结果分析

Grajales, Valentina; Lin, Jonathan Y; Sharbaugh, Danielle; Pere, Maria; Sharbaugh, Adam; Miller, David T; Pelzman, Dan; Sun, ZhaoJun; Eom, Kirsten Y; Davies, Benjamin J; Yabes, Jonathan G; Sabik, Lindsay M; Jacobs, Bruce L

Genomic Patterns of Malignant Peripheral Nerve Sheath Tumor (MPNST) Evolution Correlate with Clinical Outcome and Are Detectable in Cell-Free DNA.

恶性周围神经鞘瘤 (MPNST) 的基因组模式演变与临床结果相关,并且可以在无细胞 DNA 中检测到

Cortes-Ciriano Isidro, Steele Christopher D, Piculell Katherine, Al-Ibraheemi Alyaa, Eulo Vanessa, Bui Marilyn M, Chatzipli Aikaterini, Dickson Brendan C, Borcherding Dana C, Feber Andrew, Galor Alon, Hart Jesse, Jones Kevin B, Jordan Justin T, Kim Raymond H, Lindsay Daniel, Miller Colin, Nishida Yoshihiro, Proszek Paula Z, Serrano Jonathan, Sundby R Taylor, Szymanski Jeffrey J, Ullrich Nicole J, Viskochil David, Wang Xia, Snuderl Matija, Park Peter J, Flanagan Adrienne M, Hirbe Angela C, Pillay Nischalan, Miller David T

ACMG SF v3.2 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and Genomics (ACMG)

ACMG SF v3.2 临床外显子组和基因组测序中次要发现报告列表:美国医学遗传学和基因组学学会 (ACMG) 的政策声明

Miller, David T; Lee, Kristy; Abul-Husn, Noura S; Amendola, Laura M; Brothers, Kyle; Chung, Wendy K; Gollob, Michael H; Gordon, Adam S; Harrison, Steven M; Hershberger, Ray E; Klein, Teri E; Richards, C Sue; Stewart, Douglas R; Martin, Christa Lese

Factors Associated With Restarting Androgenic Anabolic Steroids After Cessation in Men With Infertility: A Retrospective Analysis

不育男性停用雄激素合成代谢类固醇后重新开始使用的相关因素:一项回顾性分析

White, Josh; Ghomeshi, Armin; Deebel, Nicholas A; Miller, David T; Rahman, Farah; Venigalla, Greeshma; Sandler, Max; Tomlinson, Ana; Ramasamy, Ranjith