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

5-hydroxymethylcytosine analysis reveals stable epigenomic changes in tumor tissue that enable cancer detection in cell-free DNA

5-羟甲基胞嘧啶分析揭示了肿瘤组织中稳定的表观基因组变化,这些变化使得在无细胞DNA中检测癌症成为可能。

Xue, Yuan; Ning, Yuhong; Friedl, Verena; Haan, David; Bergamaschi, Anna; Guler, Gulfem D; Hazen, Kyle; Scott, Aaron; Phillips, Tierney; McCarthy, Erin; Ellison, Christopher K; Malta, Roger; Nguyen, Albert; Lopez, Vanessa; Cavet, Romola; Peters, Melissa; Sheard, Judith; Gibb, William; Chowdhury, Shimul; Volkmuth, Wayne; Levy, Samuel

Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations

基因组测序可以检测出多种具有临床意义的拷贝数变异和其他基因组改变。

James, Kiely N; Chowdhury, Shimul; Ding, Yan; Batalov, Sergey; Watkins, Kelly; Kwon, Yong Hyun; Van Der Kraan, Lucitia; Ellsworth, Katarzyna; Kingsmore, Stephen F; Guidugli, Lucia

Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome

STAT4 变异体与自身炎症综合征中对鲁索替尼的反应

Baghdassarian, Hratch; Blackstone, Sarah A; Clay, Owen S; Philips, Rachael; Matthiasardottir, Brynja; Nehrebecky, Michele; Hua, Vivian K; McVicar, Rachael; Liu, Yang; Tucker, Suzanne M; Randazzo, Davide; Deuitch, Natalie; Rosenzweig, Sofia; Mark, Adam; Sasik, Roman; Fisch, Kathleen M; Pimpale Chavan, Pallavi; Eren, Elif; Watts, Norman R; Ma, Chi A; Gadina, Massimo; Schwartz, Daniella M; Sanyal, Anwesha; Werner, Giffin; Murdock, David R; Horita, Nobuyuki; Chowdhury, Shimul; Dimmock, David; Jepsen, Kristen; Remmers, Elaine F; Goldbach-Mansky, Raphaela; Gahl, William A; O'Shea, John J; Milner, Joshua D; Lewis, Nathan E; Chang, Johanna; Kastner, Daniel L; Torok, Kathryn; Oda, Hirotsugu; Putnam, Christopher D; Broderick, Lori

Reclassification of the Etiology of Infant Mortality With Whole-Genome Sequencing

利用全基因组测序重新分类婴儿死亡的病因

Owen, Mallory J; Wright, Meredith S; Batalov, Sergey; Kwon, Yonghyun; Ding, Yan; Chau, Kevin K; Chowdhury, Shimul; Sweeney, Nathaly M; Kiernan, Elizabeth; Richardson, Andrew; Batton, Emily; Baer, Rebecca J; Bandoli, Gretchen; Gleeson, Joseph G; Bainbridge, Matthew; Chambers, Christina D; Kingsmore, Stephen F

Report of two cases of Schaaf-Yang syndrome: Same genotype and different phenotype

两例Schaaf-Yang综合征病例报告:基因型相同,表型不同

Rodriguez, Ana Maria; Schain, Katherine; Jayakar, Parul; Wright, Meredith S; Chowdhury, Shimul; Salyakina, Daria

Best practices for the interpretation and reporting of clinical whole genome sequencing

临床全基因组测序结果解读和报告的最佳实践

Austin-Tse, Christina A; Jobanputra, Vaidehi; Perry, Denise L; Bick, David; Taft, Ryan J; Venner, Eric; Gibbs, Richard A; Young, Ted; Barnett, Sarah; Belmont, John W; Boczek, Nicole; Chowdhury, Shimul; Ellsworth, Katarzyna A; Guha, Saurav; Kulkarni, Shashikant; Marcou, Cherisse; Meng, Linyan; Murdock, David R; Rehman, Atteeq U; Spiteri, Elizabeth; Thomas-Wilson, Amanda; Kearney, Hutton M; Rehm, Heidi L

Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics

评估儿科快速下一代测序技术的应用

Palmquist, Rachel; Jenkins, Sabrina Malone; Bentley, Dawn; Miller, Christine; Mao, Rong; Meibos, Bailey; Bayrak-Toydemir, Pinar; Tvrdik, Tatiana; Nadauld, Lincoln D; Bleyl, Steven B; Chowdhury, Shimul; Ostrander, Betsy; Flores-Daboub, Josue; Longo, Nicola; Tristani-Firouzi, Martin; Hobbs, Charlotte; Bonkowsky, Joshua L; Brunelli, Luca

Rapid Sequencing-Based Diagnosis of Thiamine Metabolism Dysfunction Syndrome

基于快速测序的硫胺素代谢功能障碍综合征诊断

Owen, Mallory J; Niemi, Anna-Kaisa; Dimmock, David P; Speziale, Mark; Nespeca, Mark; Chau, Kevin K; Van Der Kraan, Luca; Wright, Meredith S; Hansen, Christian; Veeraraghavan, Narayanan; Ding, Yan; Lenberg, Jerica; Chowdhury, Shimul; Hobbs, Charlotte A; Batalov, Sergey; Zhu, Zhanyang; Nahas, Shareef A; Gilmer, Sheldon; Knight, Gail; Lefebvre, Sebastien; Reynders, John; Defay, Thomas; Weir, Jacqueline; Thomson, Vicki S; Fraser, Louise; Lajoie, Bryan R; McPhail, Tim K; Mehtalia, Shyamal S; Kunard, Chris M; Hall, Kevin P; Kingsmore, Stephen F

Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study

基因组检测临床应用的新变异发现及挑战:新生儿和婴儿基因组医学(GEMINI)研究中期报告

Maron, Jill L; Kingsmore, Stephen F; Wigby, Kristen; Chowdhury, Shimul; Dimmock, David; Poindexter, Brenda; Suhrie, Kristen; Vockley, Jerry; Diacovo, Thomas; Gelb, Bruce D; Stroustrup, Annemarie; Powell, Cynthia M; Trembath, Andrea; Gallen, Matthew; Mullen, Thomas E; Tanpaiboon, Pranoot; Reed, Dallas; Kurfiss, Anne; Davis, Jonathan M

Operational Changes and Performance Outcomes: Analysis on Hotels of Five Asia–Pacific Countries

运营变革与绩效结果:对亚太五国酒店的分析

De La Vega, Francisco M; Chowdhury, Shimul; Moore, Barry; Frise, Erwin; McCarthy, Jeanette; Hernandez, Edgar Javier; Wong, Terence; James, Kiely; Guidugli, Lucia; Agrawal, Pankaj B; Genetti, Casie A; Brownstein, Catherine A; Beggs, Alan H; Löscher, Britt-Sabina; Franke, Andre; Boone, Braden; Levy, Shawn E; Õunap, Katrin; Pajusalu, Sander; Huentelman, Matt; Ramsey, Keri; Naymik, Marcus; Narayanan, Vinodh; Veeraraghavan, Narayanan; Billings, Paul; Reese, Martin G; Yandell, Mark; Kingsmore, Stephen F; Ray, Arghya; Ma, Lan