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

Sialylation in the nervous system: Functions and mechanisms

神经系统中的唾液酸化:功能和机制

Koles, Kate; Repnikova, Elena; Novikov, Boris; Panin, Vladislav

Successful classification of clinical pediatric leukemia genetic subtypes via structural variant detection using HiFi long-read sequencing

利用高保真长读长测序技术进行结构变异检测,成功实现临床儿童白血病基因亚型的分类

Lansdon, Lisa A; Yoo, Byunggil; Keskus, Ayse; Pushel, Irina; Bi, Chengpeng; Ahmad, Tanveer; Bryant, Asher; Walter, Adam; Gibson, Margaret; Rindler, Mary; Li, Weijie; Habeebu, Sultan M; Cooley, Linda D; Herriges, John; Repnikova, Elena; Zhang, Lei; August, Keith J; Flatt, Terrie G; Gamis, Alan S; Guest, Erin M; Hays, J Allyson; Hetherington, Maxine; Lewing, Karen; Pastinen, Tomi; Kolmogorov, Mikhail; Farooqi, Midhat S

Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles

CYP2C 基因座的结构变异:缺失和重复等位基因的表征

Mariana R Botton, Xingwu Lu, Geping Zhao, Elena Repnikova, Yoshinori Seki, Andrea Gaedigk, Eric E Schadt, Lisa Edelmann, Stuart A Scott

MON-405 Cushing's Disease: An Oligosymptomatic Patient with ACTH-Secreting Pituitary Macroadenoma

MON-405 库欣病:一例少症状患者伴有促肾上腺皮质激素(ACTH)分泌性垂体大腺瘤

Farnoosh, Rahman; Abnoosian, Karlo; Isewid, Rasha Abbas; Fathima, Madiha; Khan, Abid; Gilden, Janice; Azocar Villalobos, Jorge L; Gonzales, Kristen; Lopez, Adar; Borger, Ophir; Issan, Yael; Interator, Hagar; Yackobovitch-Gavan, Michal; Cohen-Sela, Eyal; Azoulay, Erez; Perl, Liat; Moran-Lev, Hadar; Lubetzky, Ronit; Lebenthal, Yael; Brener, Avivit; Azocar Villalobos, Jorge L; Lane, Chelsea; Ereifej, Lisa; Dorin, Richard I; Aguirre, Lina E; Lung, John; Bang, Neha; Pandey, Manu; Punni, Emma; Goyal, Itivrita; Desai, Ruchi; Sidra, Fnu; Mirfakhraee, Sasan; Liwei, Jia; Polanco, Patricio; Al Mutar, Salwan; Hamidi, Oksana; Winnicki, Kamil; Ahmed, Zayd A; Olson, Guy; Porter, Tama; Melanthiou, Andriane; Incer-Obando, Maria A; Bhalla, Meeta; Galagan, Robert; Brott, Nathan R; Kandimalla, Likhita; Hollie, Matthew; Graner, Brian; Erickson, Dana Z; Donegan, Diane; Reddy, Vasudha; Gowda, Adi; Vattipally, Vihaan; Kunduru, Deepthi; Reddy, Vasudha; Gowda, Adi; Vattipally, Vihaan; Kunduru, Deepthi; Majeed, Hafsa; Nguyen, Christina; Galagan, Robert; Lovre, Dragana; Ahsan, E; Foo, F F; Lesniak, C; Akula, M; Hu, K; Ong, R; Chalasani, K; Cheng, J; Holland, S; Grennan, Krista N; Thota-Kammili, Sanjana; McKenna, Amanda L; Coyle, Catherine G; Samson, Susan L; Fatima, Sanna; Champion, Amber; Ward, Samuel; Aziz, Qurrat-ul-ain; Izuora, Kenneth E; Allen, M; Beck, R T; Zwagerman, N T; Ryzka, R J; Coss, D; Fisco, A; Ioachimescu, A G; SIDDIQUI, Mahrukh; Rafat, Ummara; Shaik, Shayann; Gilden, Janice L; Hossain, Md Shajjad; Tiwari, Bishal; Gautam, Bharat; Hossain, Sadaf; Kumar, Salini Chellappan; Rosenthal, David S; Liao, Huijuan; Papadopoulou-Marketou, Nektaria; Papageorgiou, Anna; Vavetsis, George; Panagiotis, Tsiamyrtzis; Chrousos, George P; rimal, priya; Moeed, Maryam; Musurakis, Clio; Ojha, Ankita; Akhtar, Wajeeha; Barsano, Charles P; Fatima Siddiqui, Mahwash; Shi, Meng Zhu; AlRubaish, Fatima; Gupta, Nisha; Larouche, Vincent; Christopoulos, Stavroula; Arya, Yajur; Syal, Arshi; Teja Sathi, Sri Ram; Valerie Mayrin, Jane; De la Peña Sosa, Gustavo; Hernández, Abraham Cabello; Gómez Sámano, Miguel Ángel; Gómez Pérez, Francisco Javier; Antony, Mc Anto; Gundlapally, Sindhusha; Joglekar, Mansi; Fritz, Brittany Nicole; Patel, Siddharth; Verma, Vipin; Kant, Ravi; Welch, Lurah; Welch, Lurah; Maldonado, Leopoldo; Banadera, Felix; Trapane, Pamela; Hasan, Reham; Benson, Matthew; Levine, Michael; Mauras, Nelly; Musurakis, Clio; Marenych, Nadiia; Trendafilova, Victoria; Kircheva, Diana; Gilden, Janice L; Gastelum, Alheli Arce; Mao, Jimmy J; Woods, Gina N; Atsumi, Tatsuya; Sekizaki, Tomonori; Kameda, Hiraku; Nakamura, Akinobu; Miya, Aika; Nomoto, Hiroshi; Yong Cho, Kyu; Motegi, Hiroaki; Miyoshi, Hideaki; Téblick, Arno; Vanhorebeek, Ilse; Derese, Inge; Jacobs, An; Haghedooren, Renate; Maebe, Sofie; Zeilmaker-Roest, Gerdien A; Rink, Christine; Wildschut, Enno D; Langouche, Lies; Van den Berghe, Greet; Paz-Ibarra, Jose; Gilvonio-Huauya, Edwars; Sueldo-Espinoza, Diego; Gago-Cajacuri, George; Concepción-Zavaleta, Marcio; Ramos-Yataco, Anthony; Jeng, Henry Shiheng; Knoll, Michelle; Del Viso, Florencia; Baker, Darren; Repnikova, Elena; Feldt, Matthew Maximilian; Mathew, Jilcy Joy; Pichardo-Lowden, Ariana R; Al Qarni, Ali Ahmed; Alamoudi, Reem Mohammad; Shahid, Khalida; Almanei, Amal; Alotaibi, Muneera; AlAhmed, Jawharah; Duro, Teodor; Palinka, Bethany; Gomez, Nephtali; Codorniz, Kevin Anthony; Huang, Zhengxiang; Huang, Lili; Wang, Chengjian; Zhu, Shanli; Qi, Xinzhou; Chen, Yang; Zhang, Yanjun; Cowley, Michael A; Veldhuis, Johannes D; Chen, Chen; Diana, Tanja; Ungerer, Martin; Reimann, Andreas; Faßbender, Julia; Kanitz, Michael; Kahaly, George; Manrique Franco, Katty; Urday Ipanaque, Diana Liz; Curo Carrion, Nataly

Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report

一例具有AEC样表型、免疫缺陷和1q21.1微缺失综合征的患者中发现CHUK基因的新型杂合致病变异:病例报告

Cadieux-Dion, Maxime; Safina, Nicole P; Engleman, Kendra; Saunders, Carol; Repnikova, Elena; Raje, Nikita; Canty, Kristi; Farrow, Emily; Miller, Neil; Zellmer, Lee; Thiffault, Isabelle

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder

2q23.1区域的相互缺失和重复表明MBD5在自闭症谱系障碍中发挥作用

Mullegama, Sureni V; Rosenfeld, Jill A; Orellana, Carmen; van Bon, Bregje W M; Halbach, Sara; Repnikova, Elena A; Brick, Lauren; Li, Chumei; Dupuis, Lucie; Rosello, Monica; Aradhya, Swaroop; Stavropoulos, D James; Manickam, Kandamurugu; Mitchell, Elyse; Hodge, Jennelle C; Talkowski, Michael E; Gusella, James F; Keller, Kory; Zonana, Jonathan; Schwartz, Stuart; Pyatt, Robert E; Waggoner, Darrel J; Shaffer, Lisa G; Lin, Angela E; de Vries, Bert B A; Mendoza-Londono, Roberto; Elsea, Sarah H

The role of Drosophila cytidine monophosphate-sialic acid synthetase in the nervous system

果蝇胞苷单磷酸唾液酸合成酶在神经系统中的作用

Rafique Islam, Michiko Nakamura, Hilary Scott, Elena Repnikova, Mindy Carnahan, Dheeraj Pandey, Courtney Caster, Saba Khan, Tina Zimmermann, Mark J Zoran, Vladislav M Panin

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

对 2q23.1 微缺失综合征的评估表明,MBD5 是导致智力障碍、癫痫和自闭症谱系障碍的单一致病基因位点。

Talkowski, Michael E; Mullegama, Sureni V; Rosenfeld, Jill A; van Bon, Bregje W M; Shen, Yiping; Repnikova, Elena A; Gastier-Foster, Julie; Thrush, Devon Lamb; Kathiresan, Sekar; Ruderfer, Douglas M; Chiang, Colby; Hanscom, Carrie; Ernst, Carl; Lindgren, Amelia M; Morton, Cynthia C; An, Yu; Astbury, Caroline; Brueton, Louise A; Lichtenbelt, Klaske D; Ades, Lesley C; Fichera, Marco; Romano, Corrado; Innis, Jeffrey W; Williams, Charles A; Bartholomew, Dennis; Van Allen, Margot I; Parikh, Aditi; Zhang, Lilei; Wu, Bai-Lin; Pyatt, Robert E; Schwartz, Stuart; Shaffer, Lisa G; de Vries, Bert B A; Gusella, James F; Elsea, Sarah H