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

The VEGF decoy receptor soluble Fms-like tyrosine kinase 1 binds to macrophages.

VEGF诱饵受体可溶性Fms样酪氨酸激酶1与巨噬细胞结合

van Aanhold Cleo C L, Yong Qing, Landman Lisa, Sardana Samiksha, Bouwmeester Anouk B, Dijkstra Kyra L, Wolterbeek Ron, Mei Hailiang, Tjokrodirijo Rayman T N, de Ru Arnoud H, van Veelen Peter A, Bruijn Jan A, van Kooten Cees, Baelde Hans J

Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders.

纳米孔长读长测序作为检测神经系统疾病中重复序列扩增的一线诊断测试

de Boer Eddy N, Scheper Arjen J, Hendriksen Dennis, Charbon Bart, van der Vries Gerben, Ten Berge Annelies M, Grootscholten Petra M, Lemmink Henny H, Jongbloed Jan D H, Bosscher Laura, Knoers Nine V A M, Swertz Morris A, Sikkema-Raddatz Birgit, Dijkstra Dorieke J, Johansson Lennart F, van Diemen Cleo C

High Prevalence of the Intronic GAA-FGF14 Repeat Expansion in Dutch Patients With Late-Onset Ataxia

荷兰晚发性共济失调患者中GAA-FGF14内含子重复扩增的高发率

Ignjatijevic, Ana; Boorsma, Femke; Wierenga, Elles; Vansenne, Fleur; Verschuuren-Bemelmans, Corien C; de Vries, Jeroen; Verbeek, Dineke S; Westers, Helga; van Diemen, Cleo C

MOLGENIS VIP: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methods

MOLGENIS VIP:一个端到端的DNA变异解读流程,适用于研究和诊断,可配置以支持新方法的快速实施。

Maassen, Willem T K; Johansson, Lennart F; Charbon, Bart; Hendriksen, Dennis; van den Hoek, Sander; Slofstra, Mariska K; Mulder, Renée; Meems-Veldhuis, Martine T; Sietsma, Robert; Lemmink, Henny H; van Diemen, Cleo C; van Gijn, Mariëlle E; Swertz, Morris A; van der Velde, Kasper J

Limitations of Semi-Automated Immunomagnetic Separation of HLA-G-Positive Trophoblasts from Papanicolaou Smears for Prenatal Genetic Diagnostics

半自动免疫磁性分离巴氏涂片中 HLA-G 阳性滋养细胞用于产前遗传诊断的局限性

Eddy N de Boer, Nicole Corsten-Janssen, Elles Wierenga, Theo Bijma, Jurjen T Knapper, Gerard J Te Meerman, Gwendolyn T R Manten, Nine V A M Knoers, Katelijne Bouman, Leonie K Duin, Cleo C van Diemen

Identification and Copy Number Variant Analysis of Enhancer Regions of Genes Causing Spinocerebellar Ataxia

脊髓小脑性共济失调致病基因增强子区域的鉴定和拷贝数变异分析

Ghorbani, Fatemeh; de Boer, Eddy N; Fokkens, Michiel R; de Boer-Bergsma, Jelkje; Verschuuren-Bemelmans, Corien C; Wierenga, Elles; Kasaei, Hamidreza; Noordermeer, Daan; Verbeek, Dineke S; Westers, Helga; van Diemen, Cleo C

Cas9-directed long-read sequencing to resolve optical genome mapping findings in leukemia diagnostics

Cas9 定向长读测序解决白血病诊断中的光学基因组图谱发现

Eddy N de Boer, Vincent Vroom #, Arjen J Scheper #, Lennart F Johansson, Laura Bosscher, Nettie Rietema, Sabrina Z Commandeur-Jan, Nine V A M Knoers, Birgit Sikkema-Raddatz, Eva van den Berg #, Cleo C van Diemen #

Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia

对一组荷兰小脑共济失调患者进行脊髓小脑性共济失调基因拷贝数变异分析

Ghorbani, Fatemeh; de Boer, Eddy N; Benjamins-Stok, Marloes; Verschuuren-Bemelmans, Corien C; Knapper, Jurjen; de Boer-Bergsma, Jelkje; de Vries, Jeroen J; Sikkema-Raddatz, Birgit; Verbeek, Dineke S; Westers, Helga; van Diemen, Cleo C

287 Assessment of the National Burn Repository’s Ability to Examine Obesity and Determine Burn Related Outcomes

287 评估国家烧伤数据库在检查肥胖和确定烧伤相关结果方面的能力

Mohammed, Rebar N; Aziz Sadat, Sadat Abdulla; Hassan, Snur M A; Mohammed, Hawraz Farhad; Ramzi, Derin Omer; Lyle, Elysha; Jarreau, Jacob T; Sanders, Matthew; Jones, Maria Tucci; Knight, Denise; Brockway, Patrick; Hassouba, Mahmoud; Velamuri, Sai R; Hill, David M; Ragan, Mecklin V; Mpody, Christian; Wala, Samantha J; Patterson, Kelli; Nafiu, Olubukola; Thakkar, Rajan K; Schwartz, Dana M; Bettencourt, Amanda; Carter, Jeffrey E; Davis, Theresa M; Buhikire, Katherine R; Rhodes, Joseph; Aryal, Subhash; Vercruysse, Gary; Kelly-Costa, Deena; Ryan, Colleen M; Rangatchew, Filip; Melchior, Linea; Talman, Maj-Lis; Litman, Thomas; Kastrup, Jens; Drzewiecki, Krzysztof; Holmgaard, Rikke; McGwin, Madeleine; Ni, Pengsheng; Patel, Khushbu F; Surette, Kate; Gladstone, Alexandra R; Palmieri, Tina L; Murphy, Michael; Stoddard, Jr., Frederick J; Schneider, Jeffrey C; Kazis, Lewis E; Ryan, Colleen M; Peter, Kelsey B; O'Neil, Audrey M; Fitzgerald, Natalie; Totty, Suzanne; Hartman, Brett C; Holbert, Maleea; Griffin, Bronwyn R; Wood, Fiona M; Kimble, Roy M; Holland, Andrew J A; Teague, Warwick; Frear, Cody; Crellin, Dianne; Phillips, Natalie; Storey, Kristen; Singer, Yvonne M; Cuttle, Leila; Calleja, Pauline; Duff, Jed; Choe, Deborah; Humbert, Andrew; Wolfe, Erin; Stoycos, Sarah A; Mandell, Samuel P; Stewart, Barclay T; Carrougher, Gretchen J; Kowalske, Karen J; Schneider, Jeffrey C; Crandell, David M; Yenikomshian, Haig A; Choe, Deborah; McMullen, Kara; Stewart, Barclay T; Kowalske, Karen J; Schneider, Jeffrey C; Ryan, Colleen M; Kazis, Lewis E; Orton, Caitlin M; Yenikomshian, Haig A; Ivanko, Anastasiya; Garbuzov, Anna; Schoen, Jonathan E; Kearns, Randy D; Danos, Denise; Murata, Erica; Phillips, Bart D; Phelan, Herb A; Carter, Jeffrey E; Stanton, Eloise; McMullen, Kara; Won, Paul; Kowalske, Karen J; Schneider, Jeffrey C; Ryan, Colleen M; Carrougher, Gretchen J; Yenikomshian, Haig A; McEwan, Sasha A; Chrisco, Lori; Pak, Joyce; Agala, Chris B; Coleman, Leon; Williams, Felicia; King, booker; Nizamani, Rabia; Ramgopal, Yash; Richter, Christopher G; Krishna, Sunskruthi; Shah, Suhaib; Segura, Carolina; Obias, Isabel B; Amador, Dalton; Durand, Jean pierre; ayadi, Amina E I; Golovko, Georgiy; Song, Juquan; Wolf, Steven E; Gust, Nina K B; Adams, Rebecca M; Frei, Ashley; Coughlin, Michelle; Klein, Justin D; Ridelman, Elika; Shanti, Christina M; Wayne, Colton; Malic, Claudia C; Singer, Yvonne M; Bernal, Nicole P; Kleinhapl, Julia; Knappskog, Kristine; ayadi, Amina E I; Song, Juquan; Suman-Vejas, oscar E; Branski, Ludwik K; Wolf, Steven E; Egro, Francesco; Arellano, Jose Antonio; Liu, Hilary; Alessandri-Bonetti, Mario; Donovan, James; Corcos, Alain C; Ziembicki, Jenny A; Choe, Deborah; Cooper, Michael N; Roberts, Miki; Gillenwater, Justin; Yenikomshian, Haig A; Santos, Edward; Chacon, Kaitlyn; Shepler, Lauren; McMullen, Kara; Slavin, Mary D; van de Rijn, Marc; Kowalske, Karen J; Ryan, Colleen M; Schneider, Jeffrey C; Hill, David M; Shaw, Yvonne; Todor, Lorraine A; Rank, Aaron L; Carter, Cleo C; Liu, Xiangxia; Hassouba, Mahmoud; Velamuri, Sai R; Egro, Francesco; Arellano, Jose Antonio; Liu, Hilary; Alessandri-Bonetti, Mario; Jeong, Tiffany; Kasmirski, Julia; Ziembicki, Jenny A; Stofman, Guy M; Abeln, Andrea; Klugh, James; Donthula, Deepanjli; Almand, Catherine; Campbell, Taylor; Jiang, Chuantao; Freet, Daniel J; Huzar, Todd F; Wainwright, David J; Wade, Charles E; Kao, Lillian S; Harvin, John A; Cobler-Lichter, Michael D; Ramsey, Walter A; O'Neil, Christopher F; Ishii, Mary; Satahoo, Shevonne S; Kaufman, Joyce I; Pizano, Louis R; Koru-Sengul, Tulay; Szapocznik, Jose; Schulman, Carl I; Arellano, Jose Antonio; Jeong, Tiffany; Pandya, Sumaarg; Liu, Hilary; Alessandri-Bonetti, Mario; Stofman, Guy M; Egro, Francesco; Proffitt, Allison; Sojka, John H; Heard, Jason; Sen, Soman; Palmieri, Tina L; Greenhalgh, David G; Romanowski, Kathleen S; Buta, Martin R; Findeisen, Sarah; Ni, Pengsheng; Kazis, Lewis E; Hickey, Sean; Friedstat, Jonathan S; Schulz, John T; Ryan, Colleen M; Schneider, Jeffrey C; Goverman, Jeremy; Pinto, Desiree; Lee, Sophia; Johnson, Cory; Halabi, Rola A; Le, Tuan D; Tejiram, Shawn; Travis, Taryn E; Moffatt, Lauren T; Shupp, Jeffrey W; Epstein, Larissa; Peyton, Jamie L; Coward, Alexandra; Heard, Jason; Sen, Soman; Romanowski, Kathleen S; Palmieri, Tina L; Mathew, Shane; Pinto, Desiree; Carney, Bonnie C; Moffatt, Lauren T; Shupp, Jeffrey W; Tejiram, Shawn; King, booker; Carter, Elisabeth A; William, Dabbs; Agala, Chris B; Chrisco, Lori; Williams, Felicia; Carney, Bonnie C; Lee, Davon T; Travis, Taryn E; Allely, Rebekah R; Tejiram, Shawn; Shupp, Jeffrey W; Le, Tuan D; Pinto, Desiree; Pusateri, Anthony; McLawhorn, Melissa M; Moffatt, Lauren T; Shupp, Jeffrey W; Humbert, Andrew; McMullen, Kara; Bamer, Alyssa M; Orton, Caitlin M; Roaten, Kimberly; Schneider, Jeffrey C; Solis-Beach, Kyra; Trinh, Nhi-Ha; Yenikomshian, Haig A; Amtmann, Dagmar; Pinto, Desiree; Le, Tuan D; Pusateri, Anthony; Matthew, Shane; McLawhorn, Melissa M; Moffatt, Lauren T; Shupp, Jeffrey W; Epstein, Larissa; Franco, Carina; Coward, Alexandra; Heard, Jason; Sen, Soman; Palmieri, Tina L; Romanowski, Kathleen S; Buta, Martin R; Findeisen, Sarah; Ni, Pengsheng; Kazis, Lewis E; Hickey, Sean; Friedstat, Jonathan S; Schulz, John T; Ryan, Colleen M; Schneider, Jeffrey C; Goverman, Jeremy; Graves, Caran; Thompson, Callie M; LaChapelle, Christopher R; Fleming, Irma D; Lewis, Giavonni M; Lucio, J Xavier; Anyan, Walter R; DuRose, Lily; Ellsworth, Madelyn P; Fleming, Irma D; Lewis, Giavonni M; Thompson, Callie M; LaChapelle, Christopher R; Dominguez, Tamara Alcala; McMullen, Kara; Orton, Caitlin M; Yenikomshian, Haig A; Flores, Elizabeth; Schneider, Jeffrey C; Ryan, Colleen M; Stewart, Barclay T; Mathew, Shane; Le, Tuan D; Pusateri, Anthony; Tejiram, Shawn; Travis, Taryn E; Carney, Bonnie C; McLawhorn, Melissa M; Moffatt, Lauren T; Shupp, Jeffrey W; Biswas, Arushi; Zamore, Zachary H; Aslami, Zohra V; Tiongco, Rafael Felix P; Ali, Ayman; Cooney, Carisa M M; Fisher, Mark; Caffrey, Julie A; Lerman, Sheera F; Savetamal, Alisa; Canner, Joseph; Gibbs, Karen; Graetz, Elena; Ong, Chin Siang; Schneider, Eric; Kahn, Steven A; Carter, Jeffrey E; Gaweda, Gabriel G; Halicki, Elizabeth; Hickerson, William L; Hink, Ashley; Holmes, James H IV; Ozhathil, Deepak; Raghava, Narayan; Mueller, Scott W; Blass, Brittany; Davis, Julia N; Deeter, Lyndsay A; Gibson, Cameron; Kohler, Amber D; Wiktor, Arek J; Kelly, Edward J IV; Moffatt, Lauren T; Shupp, Jeffrey W; Tejiram, Shawn

Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia.

荷兰 CANVAS 和成人发病共济失调患者中 RFC1 内含子重复扩增的患病率

Ghorbani Fatemeh, de Boer-Bergsma Jelkje, Verschuuren-Bemelmans Corien C, Pennings Maartje, de Boer Eddy N, Kremer Berry, Vanhoutte Els K, de Vries Jeroen J, van de Berg Raymond, Kamsteeg Erik-Jan, van Diemen Cleo C, Westers Helga, van de Warrenburg Bart P, Verbeek Dineke S