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

Low-Allele-Frequency Somatic Variants in a Cohort of Sporadic Saccular "Berry" Cerebral Aneurysms

散发性囊状“浆果状”脑动脉瘤队列中低等位基因频率的体细胞变异

Karasozen, Yigit; McAvoy, Malia; Parada, Carolina A; Busald, Tina; Kondaboina, Shruthi; Osbun, Joshua W; Ruzevick, Jacob; Levitt, Michael R; Gonzalez-Cuyar, Luis F; Kim, Louis J; Dorschner, Michael O; Ferreira, Manuel Jr

Targeted analysis of dyslexia-associated regions on chromosomes 6, 12 and 15 in large multigenerational cohorts

对大型多代队列中6号、12号和15号染色体上与阅读障碍相关的区域进行靶向分析

Chapman, Nicola H; Navas, Patrick A; Dorschner, Michael O; Mehaffey, Michele; Wigg, Karen G; Price, Kaitlyn M; Naumova, Oxana Y; Kerr, Elizabeth N; Guger, Sharon L; Lovett, Maureen W; Grigorenko, Elena L; Berninger, Virginia; Barr, Cathy L; Wijsman, Ellen M; Raskind, Wendy H

Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.

鸟苷酸激酶 1 缺乏症:一种新型且可能可治疗的线粒体 DNA 耗竭/缺失疾病

Hidalgo-Gutierrez Agustin, Shintaku Jonathan, Ramon Javier, Barriocanal-Casado Eliana, Pesini Alba, Saneto Russell P, Garrabou Gloria, Milisenda Jose Cesar, Matas-Garcia Ana, Gort Laura, Ugarteburu Olatz, Gu Yue, Koganti Lahari, Wang Tian, Tadesse Saba, Meneri Megi, Sciacco Monica, Wang Shuang, Tanji Kurenai, Horwitz Marshall S, Dorschner Michael O, Mansukhani Mahesh, Comi Giacomo Pietro, Ronchi Dario, Marti Ramon, Ribes Antonia, Tort Frederic, Hirano Michio

NOTCH3 C201R variant causes cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) that can be confused with early-onset Alzheimer's disease

NOTCH3 C201R 变异会导致伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病 (CADASIL),这种疾病可能与早发性阿尔茨海默病相混淆。

Korvatska, Olena; Bucks, Stephanie A; Yoda, Rebecca A; Nolan, Amber; Dorschner, Michael O; Tsuang, Debby; Jayadev, Suman; Raskind, Wendy H; Bird, Thomas D

Homozygous CADPS2 Mutations Cause Neurodegenerative Disease with Lewy Body-like Pathology in Parrots

纯合CADPS2突变导致鹦鹉患上类似路易体病理的神经退行性疾病

Lorenzo-Betancor, Oswaldo; Galosi, Livio; Bonfili, Laura; Eleuteri, Anna Maria; Cecarini, Valentina; Verin, Ranieri; Dini, Fabrizio; Attili, Anna-Rita; Berardi, Sara; Biagini, Lucia; Robino, Patrizia; Stella, Maria Cristina; Yearout, Dora; Dorschner, Michael O; Tsuang, Debby W; Rossi, Giacomo; Zabetian, Cyrus P

ORCA, a values-based decision aid for selecting additional findings from genomic sequencing in adults: Efficacy results from a randomized trial

ORCA,一种基于价值观的决策辅助工具,用于从成人基因组测序中选择其他发现:一项随机试验的有效性结果

Liles, Elizabeth G; Leo, Michael C; Freed, Amanda S; Porter, Kathryn M; Zepp, Jamilyn M; Kauffman, Tia L; Keast, Erin; McMullen, Carmit K; Gruß, Inga; Biesecker, Barbara B; Muessig, Kristin R; Eubanks, Donna J; Amendola, Laura M; Dorschner, Michael O; Rolf, Bradley A; Jarvik, Gail P; Goddard, Katrina A B; Wilfond, Benjamin S

Safety, Feasibility, and Merits of Longitudinal Molecular Testing of Multiple Metastatic Sites to Inform mTNBC Patient Treatment in the Intensive Trial of Omics in Cancer

在癌症组学强化试验中,对多个转移部位进行纵向分子检测以指导转移性三阴性乳腺癌(mTNBC)患者治疗的安全性、可行性和优势

Burton, Kimberly A; Mahen, Elisabeth; Konnick, Eric Quentin; Blau, Sibel; Dorschner, Michael O; Ramirez, Arturo B; Schmechel, Stephen C; Song, Chaozhong; Parulkar, Rahul; Parker, Stephanie; Senecal, Francis Mark; Pritchard, Colin C; Mecham, Brigham H; Szeto, Christopher; Spilman, Patricia; Zhu, Jingchun; Gadi, Vijayakrishna K; Ronen, Roy; Stilwell, Jackie; Kaldjian, Eric; Dutkowski, Janusz; Benz, Stephen Charles; Rabizadeh, Shahrooz; Soon-Shiong, Patrick; Blau, C Anthony

Professor Stefan Hohmann (08.09.1956–02.07.2021)

斯特凡·霍曼教授 (08.09.1956–02.07.2021)

Mittendorf, Kathleen F; Kauffman, Tia L; Amendola, Laura M; Anderson, Katherine P; Biesecker, Barbara B; Dorschner, Michael O; Duenas, Devan M; Eubanks, Donna J; Feigelson, Heather Spencer; Gilmore, Marian J; Hunter, Jessica Ezzell; Joseph, Galen; Kraft, Stephanie A; Lee, Sandra Soo Jin; Leo, Michael C; Liles, Elizabeth G; Lindberg, Nangel M; Muessig, Kristin R; Okuyama, Sonia; Porter, Kathryn M; Riddle, Leslie S; Rolf, Bradley A; Rope, Alan F; Zepp, Jamilyn M; Jarvik, Gail P; Wilfond, Benjamin S; Goddard, Katrina A B; Nielsen, Jens; Tamás, Markus J

Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies

在九项基因组实施研究中,使用 ACMG-AMP 变异解释指南进行变异分类一致性分析

Amendola, Laura M; Muenzen, Kathleen; Biesecker, Leslie G; Bowling, Kevin M; Cooper, Greg M; Dorschner, Michael O; Driscoll, Catherine; Foreman, Ann Katherine M; Golden-Grant, Katie; Greally, John M; Hindorff, Lucia; Kanavy, Dona; Jobanputra, Vaidehi; Johnston, Jennifer J; Kenny, Eimear E; McNulty, Shannon; Murali, Priyanka; Ou, Jeffrey; Powell, Bradford C; Rehm, Heidi L; Rolf, Bradley; Roman, Tamara S; Van Ziffle, Jessica; Guha, Saurav; Abhyankar, Avinash; Crosslin, David; Venner, Eric; Yuan, Bo; Zouk, Hana; Jarvik, Gail P

Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study

扩张型心肌病变异解读:美国医学遗传学和基因组学学会/ClinGen指南在扩张型心肌病精准医学研究中的完善

Morales, Ana; Kinnamon, Daniel D; Jordan, Elizabeth; Platt, Julia; Vatta, Matteo; Dorschner, Michael O; Starkey, Carl A; Mead, Jonathan O; Ai, Tomohiko; Burke, Wylie; Gastier-Foster, Julie; Jarvik, Gail P; Rehm, Heidi L; Nickerson, Deborah A; Hershberger, Ray E