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

Metabolic dysfunction associated steatotic liver disease: mechanisms, diagnosis, and management in adults

代谢功能障碍相关脂肪肝:成人发病机制、诊断和治疗

Reinson, Tina; Bilson, Josh; Childs, Caroline; Buchanan, Ryan M; Targher, Giovanni; Byrne, Christopher D

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

致病性UNC13A变异体通过损害突触功能导致神经发育综合征。

Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H; Marshall, Christian R; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M; de Kruiff, Chris C; Rajabi, Farrah; Rodan, Lance H; Coury, Stephanie A; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P; Kraemer, Dennis; Prada, Carlos E; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G Christoph; Bamshad, Michael J; Campeau, Philippe M; Lehman, Anna; Hendon, Laura G; Wentzensen, Ingrid M; Monaghan, Kristin G; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K; Seeley, Andrea H; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J; Washington, Camerun; Stevens, Servi J C; Heijligers, Malou; Alkuraya, Fowzan S; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P; Kühn, Andrea A; Thoms, Sven; Morrie, Ryan D; Mekhoubad, Shila; Green, Eric M; Barmada, Sami J; Gitler, Aaron D; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S; Rauch, Anita; Lipstein, Noa

Screening to identify people with type 2 diabetes at risk of liver cancer in primary care: a randomised controlled trial protocol

在基层医疗机构中筛查2型糖尿病患者以识别其罹患肝癌的风险:一项随机对照试验方案

Buchanan, Ryan M; Reinson, Tina; Bilson, Josh; Woodland, Hazel; Nwoguh, Chinonso; Cooper, Keith; Harris, Scott; Malone, Karen; Byrne, Christopher D

Alternative polyadenylation alters protein dosage by switching between intronic and 3'UTR sites

选择性多聚腺苷酸化通过在内含子和3'UTR位点之间切换来改变蛋白质剂量。

Nicola de Prisco ,Caitlin Ford ,Nathan D Elrod ,Winston Lee ,Lauren C Tang ,Kai-Lieh Huang ,Ai Lin ,Ping Ji ,Venkata S Jonnakuti ,Lia Boyle ,Maximilian Cabaj ,Salvatore Botta ,Katrin Õunap ,Karit Reinson ,Monica H Wojcik ,Jill A Rosenfeld ,Weimin Bi ,Kristian Tveten ,Trine Prescott ,Thorsten Gerstner ,Audrey Schroeder ,Chin-To Fong ,Jaya K George-Abraham ,Catherine A Buchanan ,Andrea Hanson-Khan ,Jonathan A Bernstein ,Aikaterini A Nella ,Wendy K Chung ,Vicky Brandt ,Marko Jovanovic ,Kimara L Targoff ,Hari Krishna Yalamanchili ,Eric J Wagner ,Vincenzo A Gennarino

A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder

关键染色质修饰因子WDR5中杂合错义变异的聚集定义了一种新的神经发育障碍

Snijders Blok, Lot; Verseput, Jolijn; Rots, Dmitrijs; Venselaar, Hanka; Innes, A Micheil; Stumpel, Connie; Õunap, Katrin; Reinson, Karit; Seaby, Eleanor G; McKee, Shane; Burton, Barbara; Kim, Katherine; van Hagen, Johanna M; Waisfisz, Quinten; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Li, Dong; Zackai, Elaine H; Sheppard, Sarah E; Keena, Beth; Hakonarson, Hakon; Roos, Andreas; Kohlschmidt, Nicolai; Cereda, Anna; Iascone, Maria; Rebessi, Erika; Kernohan, Kristin D; Campeau, Philippe M; Millan, Francisca; Taylor, Jesse A; Lochmüller, Hanns; Higgs, Martin R; Goula, Amalia; Bernhard, Birgitta; Velasco, Danita J; Schmanski, Andrew A; Stark, Zornitza; Gallacher, Lyndon; Pais, Lynn; Marcogliese, Paul C; Yamamoto, Shinya; Raun, Nicholas; Jakub, Taryn E; Kramer, Jamie M; den Hoed, Joery; Fisher, Simon E; Brunner, Han G; Kleefstra, Tjitske

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content

mRNA 输出因子 GANP 的不同影响决定了神经系统疾病的表型,并根据内含子含量改变基因表达

Rosa Woldegebriel, Jouni Kvist, Noora Andersson, Katrin Õunap, Karit Reinson, Monica H Wojcik, Emilia K Bijlsma, Mariëtte J V Hoffer, Monique M Ryan, Zornitza Stark, Maie Walsh, Inge Cuppen, Marie-Jose H van den Boogaard, Diana Bharucha-Goebel, Sandra Donkervoort, Sara Winchester, Roberto Zori, Cars

Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene

由于 PRPS1 基因中出现新的半合功能丧失变异,导致 Arts 综合征的非典型表现

Sanna Puusepp, Karit Reinson, Sander Pajusalu, André B P van Kuilenburg, Doreen Dobritzsch, Jeroen Roelofsen, Werner Stenzel, Katrin Õunap

Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11

NDUFB11 突变导致复合物 I 缺乏症患者表型多样

Karit Reinson, Reka Kovacs-Nagy, Eve Õiglane-Shlik, Sander Pajusalu, Margit Nõukas, Liesbeth T Wintjes, Frans C A van den Brandt, Maaike Brink, Till Acker, Uwe Ahting, Andreas Hahn, Anne Schänzer, Tobias B Haack, Richard J Rodenburg, Katrin Õunap

FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening

新生儿筛查发现 FLAD1 相关多种酰基辅酶 A 脱氢酶缺乏症

Kai Muru, Karit Reinson, Kadi Künnapas, Hardo Lilleväli, Zahra Nochi, Signe Mosegaard, Sander Pajusalu, Rikke K J Olsen, Katrin Õunap

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

SLC25A4 中反复发生的新生显性突变导致严重的早发性线粒体疾病和线粒体 DNA 拷贝数丢失

Kyle Thompson, Homa Majd, Cristina Dallabona, Karit Reinson, Martin S King, Charlotte L Alston, Langping He, Tiziana Lodi, Simon A Jones, Aviva Fattal-Valevski, Nitay D Fraenkel, Ann Saada, Alon Haham, Pirjo Isohanni, Roshni Vara, Inês A Barbosa, Michael A Simpson, Charu Deshpande, Sanna Puusepp, Pe