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

Guidelines for the testing and reporting of cytogenetic results for risk stratification of multiple myeloma: a report of the Cancer Genomics Consortium Plasma Cell Neoplasm Working Group

多发性骨髓瘤风险分层细胞遗传学结果检测和报告指南:癌症基因组学联盟浆细胞肿瘤工作组报告

Lu, Xinyan; Andersen, Erica F; Banerjee, Rahul; Eno, Celeste C; Gonzales, Patrick R; Kumar, Shaji; Lager, Angela M; Miron, Patricia M; Pugh, Trevor; Quintero-Rivera, Fabiola; Thurston, Virginia C; Wolff, Daynna J; Zhao, Jian; Fonseca, Rafael; Baughn, Linda B

Addressing the Minority Tax by Building Diversity Capital: A Case-Based Discussion

通过构建多元化资本来应对少数族裔税收:案例探讨

Sánchez, John P; Ellis, Deion; Plaza, Veronica; Vélez, Andrea; Rodriguez, Jose; Duque Lasio, Laura; Quintero-Rivera, Fabiola

Increased AID results in mutations at the CRLF2 locus implicated in Latin American ALL health disparities

AID 增加导致 CRLF2 基因座发生突变,与拉丁美洲 ALL 健康差异有关

Valeria Rangel #, Jason N Sterrenberg #, Aya Garawi, Vyanka Mezcord, Melissa L Folkerts, Sabrina E Calderon, Yadhira E Garcia, Jinglong Wang, Eli M Soyfer, Oliver S Eng, Jennifer B Valerin, Sora Park Tanjasiri, Fabiola Quintero-Rivera, Marcus M Seldin, Selma Masri, Richard L Frock, Angela G Fleischm

Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1

VCP基因中的新变异导致多系统蛋白病1

Columbres, Rod Carlo Agram; Chin, Yue; Pratti, Sanjana; Quinn, Colin; Gonzalez-Cuyar, Luis F; Weiss, Michael; Quintero-Rivera, Fabiola; Kimonis, Virginia

Outcomes of two different unbalanced segregations from a maternal t(4;10)(q33;p15.1) translocation

母源t(4;10)(q33;p15.1)易位导致的两种不同不平衡分离的结果

Fan, Judith; Senaratne, T Niroshini; Liu, Jason Y; Bina, Michelle; Martinez-Agosto, Julian A; Quintero-Rivera, Fabiola; Wang, Jessica J

Increased AID Results in Mutations at the CRLF2 Locus Implicated in Latin American ALL Health Disparities.

艾滋病毒感染增加导致 CRLF2 基因位点发生突变,这与拉丁美洲所有人类疾病的健康差异有关

Pannunzio Nicholas, Rangel Valeria, Sterrenberg Jason, Garawi Aya, Mezcord Vyanka, Folkerts Melissa, Caulderon Sabrina, Wang Jinglong, Soyfer Eli, Eng Oliver, Valerin Jennifer, Tanjasiri Sora, Quintero-Rivera Fabiola, Masri Selma, Seldin Marcus, Frock Richard, Fleischman Angela

Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome

原发性心内膜弹力纤维增生症中的隐性纤毛病突变:一例阿尔斯特罗姆综合征患者并发罕见新生儿心肌病

Zhao, Yan; Wang, Lee-Kai; Eskin, Ascia; Kang, Xuedong; Fajardo, Viviana M; Mehta, Zubin; Pineles, Stacy; Schmidt, Ryan J; Nagiel, Aaron; Satou, Gary; Garg, Meena; Federman, Myke; Reardon, Leigh C; Lee, Steven L; Biniwale, Reshma; Grody, Wayne W; Halnon, Nancy; Khanlou, Negar; Quintero-Rivera, Fabiola; Alejos, Juan C; Nakano, Atsushi; Fishbein, Gregory A; Van Arsdell, Glen S; Nelson, Stanley F; Touma, Marlin

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome

在包含 104 名 Wiedemann-Steiner 综合征患者的多元化队列中,扩展了基因型和表型谱。

Sheppard, Sarah E; Campbell, Ian M; Harr, Margaret H; Gold, Nina; Li, Dong; Bjornsson, Hans T; Cohen, Julie S; Fahrner, Jill A; Fatemi, Ali; Harris, Jacqueline R; Nowak, Catherine; Stevens, Cathy A; Grand, Katheryn; Au, Margaret; Graham, John M Jr; Sanchez-Lara, Pedro A; Campo, Miguel Del; Jones, Marilyn C; Abdul-Rahman, Omar; Alkuraya, Fowzan S; Bassetti, Jennifer A; Bergstrom, Katherine; Bhoj, Elizabeth; Dugan, Sarah; Kaplan, Julie D; Derar, Nada; Gripp, Karen W; Hauser, Natalie; Innes, A Micheil; Keena, Beth; Kodra, Neslida; Miller, Rebecca; Nelson, Beverly; Nowaczyk, Malgorzata J; Rahbeeni, Zuhair; Ben-Shachar, Shay; Shieh, Joseph T; Slavotinek, Anne; Sobering, Andrew K; Abbott, Mary-Alice; Allain, Dawn C; Amlie-Wolf, Louise; Au, Ping Yee Billie; Bedoukian, Emma; Beek, Geoffrey; Barry, James; Berg, Janet; Bernstein, Jonathan A; Cytrynbaum, Cheryl; Chung, Brian Hon-Yin; Donoghue, Sarah; Dorrani, Naghmeh; Eaton, Alison; Flores-Daboub, Josue A; Dubbs, Holly; Felix, Carolyn A; Fong, Chin-To; Fung, Jasmine Lee Fong; Gangaram, Balram; Goldstein, Amy; Greenberg, Rotem; Ha, Thoa K; Hersh, Joseph; Izumi, Kosuke; Kallish, Staci; Kravets, Elijah; Kwok, Pui-Yan; Jobling, Rebekah K; Knight Johnson, Amy E; Kushner, Jessica; Lee, Bo Hoon; Levin, Brooke; Lindstrom, Kristin; Manickam, Kandamurugu; Mardach, Rebecca; McCormick, Elizabeth; McLeod, D Ross; Mentch, Frank D; Minks, Kelly; Muraresku, Colleen; Nelson, Stanley F; Porazzi, Patrizia; Pichurin, Pavel N; Powell-Hamilton, Nina N; Powis, Zoe; Ritter, Alyssa; Rogers, Caleb; Rohena, Luis; Ronspies, Carey; Schroeder, Audrey; Stark, Zornitza; Starr, Lois; Stoler, Joan; Suwannarat, Pim; Velinov, Milen; Weksberg, Rosanna; Wilnai, Yael; Zadeh, Neda; Zand, Dina J; Falk, Marni J; Hakonarson, Hakon; Zackai, Elaine H; Quintero-Rivera, Fabiola

Gene-environment regulation of chamber-specific maturation during hypoxemic perinatal circulatory transition

低氧性围产期循环过渡期间腔室特异性成熟的基因-环境调控

Zhao, Yan; Kang, Xuedong; Barsegian, Alexander; He, Jian; Guzman, Alejandra; Lau, Ryan P; Biniwale, Reshma; Wadhra, Madhuri; Reemtsen, Brian; Garg, Meena; Halnon, Nancy; Quintero-Rivera, Fabiola; Grody, Wayne W; Van Arsdell, Glen; Nelson, Stanley F; Touma, Marlin

Diversity, inclusion and equity in medical genetics: The time is now

医学遗传学领域的多元化、包容性和公平性:时不我待

Quintero-Rivera, Fabiola; Hisama, Fuki M