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

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

U4 和 U6 snRNA 基因的新生突变和遗传性显性突变会导致视网膜色素变性。

Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; AlTalbishi, Ala'a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo

Specific gut microbes are associated with the incidence of cardiometabolic disease in the HELIUS cohort

HELIUS队列研究发现,特定的肠道微生物与心血管代谢疾病的发生率相关。

Verhaar, Barbara J H; Bouwmeester, Thomas A; Galenkamp, Henrike; van den Born, Bert-Jan H; Nieuwdorp, Max

EGFLAM Pathogenic Variants and Congenital Stationary Night Blindness

EGFLAM致病变异与先天性静止性夜盲症

Boranijasevic, Sanja; Smirnov, Vasily; Navarro, Julien; Tjon-Fo-Sang, Martha; Condroyer, Christel; Haer-Wigman, Lonneke; Antonio, Aline; Dhaenens, Claire-Marie; Verhoeven, Virginie J M; Sahel, José-Alain; van den Born, L Ingeborgh; Defoort, Sabine; Audo, Isabelle; Zeitz, Christina

Publisher Correction: Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome

出版商更正:长读长测序技术发现 IQCB1 基因中一个隐藏的 LINE-1/ERV1 插入突变是 Senior-Løken 综合征的致病变异。

de Bruijn, Suzanne E; Ingeborgh, Van den Born L; Derks, Ronny; Haer-Wigman, Lonneke; O'Gorman, Luke; Cremers, Frans P M; van Beek, Ronald; Hoischen, Alexander; Roosing, Susanne; Neveling, Kornelia

Gut Microbiota Predicts the Risk of Future COVID-19 Hospitalization and Mortality: Insights From the Population-Based HELIUS Study

肠道菌群预测未来 COVID-19 住院和死亡风险:来自基于人群的 HELIUS 研究的启示

Kullberg, Robert F J; Appelman, Brent; Galenkamp, Henrike; Prins, Maria; van den Born, Bert-Jan; Nieuwdorp, Max; Haak, Bastiaan W; Wiersinga, W Joost

Association of Dietary Patterns with Incident Type 2 Diabetes Among Migrant and Nonmigrant Ghanaian Populations in the Prospective Research on Obesity and Diabetes in African Migrants (RODAM-Pros) Study

前瞻性研究(RODAM-Pros)探讨了加纳移民和非移民人群的饮食模式与2型糖尿病发病率之间的关联。

Appiah, Lambert Tetteh; Nicolaou, Mary; van der Linden, Eva L; Chilunga, Felix P; Beune, Erik; Meeks, Karlijn Ac; Darko, Samuel N; Owusu-Dabo, Ellis; van den Born, Bert-Jan; Agyemang, Charles

Prevalence and associated factors of hypertension among adults in Sub-Saharan Africa: a systematic review and meta-analysis of community-based studies

撒哈拉以南非洲成年人高血压患病率及相关因素:基于社区研究的系统评价和荟萃分析

Kakoma, Placide Kambola; Muyumba, Emmanuel Kiyana; Mukuku, Olivier; Musung, Jacques Mbaz; Banze, Jeef Paul M; Lisasi, Gauthier Kastin; Kayomb, Nathalie Kaj; Bin, Gauthier Mibanga Katshiese; Kakoma, Jean-Baptiste Sakatolo Zambeze; Bugeme, Marcellin; Nkulu, Dophra Ngoy; van den Born, Bert-Jan H

Studies of post-partum placentas provide insights into the origin of structural chromosomal aberrations

对产后胎盘的研究为了解染色体结构畸变的起源提供了见解。

Thomsen, S H; van Berkel, A; van Veen, S; van Koetsveld, N; Joosten, M; Diderich, K E M; van den Born, M; Srebniak, M I; Van Opstal, D

Gut microbiota shift in Ghanaian individuals along the migration axis: the RODAM-Pros cohort

加纳人群肠道菌群沿迁徙轴线的变化:RODAM-Pros队列研究

Verhaar, Barbara J H; van der Linden, Eva L; Hayfron-Benjamin, Charles F; Owusu-Dabo, Ellis; Darko, Samuel N; Twumasi-Ankrah, Sampson; Henneman, Peter; Beune, Erik; Meeks, Karlijn A C; Nieuwdorp, Max; Herrema, Hilde; van den Born, Bert-Jan H; Agyemang, Charles

Blood pressure change and hypertension incidence among Ghanaians living in rural Ghana, urban Ghana and The Netherlands: a prospective cohort study

加纳农村、城市和荷兰居民血压变化及高血压发病率:一项前瞻性队列研究

van der Linden, Eva L; Hoevenaar-Blom, Marieke; Beune, Erik; Nkansah Darko, Samuel; Twumasi Ankrah, Sampson; Meeks, Karlijn A C; Chilunga, Felix; Hayfron-Benjamin, Charles; Henneman, Peter; van den Born, Bert-Jan; Owusu Dabo, Ellis; Agyemang, Charles