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

Mitotic BLM functions are required to maintain genomic stability.

有丝分裂BLM功能对于维持基因组稳定性至关重要。

Hamann Tamara Eleanore, Wieland Angela, Mohseni Farbod, Vukušić Kruno, Tirincsi Andrea, Wardenaar Rene, Losito Marialucrezia, Harmsen Iris, Gönenc Ipek Ilgin, Wollnik Bernd, Foijer Floris, Tolić Iva M, Storchová Zuzana, Räschle Markus

Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathies

ACTB 和 ACTG1 相关非肌肉肌动蛋白病中的分子基因型-表型相关性

Di Donato, Nataliya; Thom, Andrew; Rump, Andreas; Greve, Johannes N; Cadiñanos, Juan; Calabrò, Rocco Salvatore; Cathey, Sara; Chung, Brian; Cope, Heidi; Costales, Maria; Cuvertino, Sara; Dinkel, Philine; Erripi, Kalliopi; Fry, Andrew E; Garavelli, Livia; Hoffjan, Sabine; Janzarik, Wibke G; Kreimer, Insa; Mancini, Grazia; Marin-Reina, Purificacion; Meinhardt, Andrea; Niehaus, Indra; Pilz, Daniela; Ricca, Ivana; Simarro, Fernando Santos; Schrock, Evelin; Marquardt, Anja; Taft, Manuel H; Tezcan, Kamer; Thunström, Sofia; Verhagen, Judith; Verloes, Alain; Wollnik, Bernd; Krawitz, Peter; Hsieh, Tzung-Chien; Seifert, Michael; Heide, Michael; Lawrence, Catherine B; Roberts, Neil A; Manstein, Dietmar J; Woolf, Adrian S; Banka, Siddharth

Author Correction: Reliability of high-quantity human brain organoids for modeling microcephaly, glioma invasion and drug screening

作者更正:高纯度人脑类器官在模拟小头畸形、胶质瘤侵袭和药物筛选方面的可靠性

Ramani, Anand; Pasquini, Giovanni; Gerkau, Niklas J; Jadhav, Vaibhav; Vinchure, Omkar Suhas; Altinisik, Nazlican; Windoffer, Hannes; Muller, Sarah; Rothenaigner, Ina; Lin, Sean; Mariappan, Aruljothi; Rathinam, Dhanasekaran; Mirsaidi, Ali; Goureau, Olivier; Ricci-Vitiani, Lucia; D'Alessandris, Quintino Giorgio; Wollnik, Bernd; Muotri, Alysson; Freifeld, Limor; Jurisch-Yaksi, Nathalie; Pallini, Roberto; Rose, Christine R; Busskamp, Volker; Gabriel, Elke; Hadian, Kamyar; Gopalakrishnan, Jay

Is CABP2-Associated Hearing Loss (DFNB93) a Gene Therapy Target? Preclinical Progress and Patient Registry

CABP2相关性听力损失(DFNB93)是基因治疗靶点吗?临床前进展和患者登记

Vona, Barbara; Wollnik, Bernd; Strenzke, Nicola; Pangršič, Tina; Moser, Tobias

Identification of Novel Susceptibility Genes for Early-Onset Colorectal Cancer Through Germline Rare Variant Burden Testing

通过种系罕见变异负荷检测鉴定早发性结直肠癌的新易感基因

Song, Ruocen; Mikaeel, Reger R; He, Zhongping; Horsnell, Mehgan; Uylaki, Wendy; Meng, Weimin; Poplawski, Nicola K; Wollnik, Bernd; Li, Yun; Feng, Jinghua; Scott, Hamish S; Shen, Yufeng; Wang, Chen; Yin, Rui; Ding, Yousong; Llor, Xavier; Chung, Wendy K; Smith, Eric; Price, Timothy J; Young, Joanne P; Fan, Xiao

The role of genetics in inherited cardiac diseases

遗传学在遗传性心脏病中的作用

Rappold, Gudrun; Wollnik, Bernd

Understanding inherited cardiomyopathies: clinical aspects and genetic determinants

了解遗传性心肌病:临床表现和遗传决定因素

Yigit, Gökhan; Kaulfuß, Silke; Wollnik, Bernd

XRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches

XRCC4相关性小头畸形原始侏儒症:7例临床病例系列描述、表型扩展及新的诊断方法

Cuinat, Silvestre; Chatron, Nicolas; Petit, Florence; Brunelle, Perrine; Dincuff, Etienne; Aubert Mucca, Marion; Bieth, Eric; Schmetz, Ariane; Rieder, Harald; Wollnik, Bernd; Kaulfuß, Silke; Yigit, Gökhan; McKeown, Colina; Savage, Tim; Mulligan, Meghan R; Bicknell, Louise S; Corsten-Janssen, Nicole; Edery, Patrick; Lesca, Gaetan; de Villartay, Jean-Pierre; Putoux, Audrey

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism

关键自噬锚定因子EPG5的突变与神经发育障碍和神经退行性疾病(包括早发性帕金森病)相关。

Dafsari, Hormos Salimi; Deneubourg, Celine; Singh, Kritarth; Maroofian, Reza; Suprenant, Zita; Kho, Ay Lin; Ingham, Neil J; Steel, Karen P; Sheshadri, Preethi; Baur, Franciska; Hentrich, Lea; Gerisch, Birgit; Zamani, Mina; Alves, Cesar; Siddiqui, Ata; Dafsari, Haidar S; Salari, Mehri; Lang, Anthony E; Harris, Michael; Abdelaleem, Alice; Sadeghian, Saeid; Azizimalamiri, Reza; Galehdari, Hamid; Shariati, Gholamreza; Sedaghat, Alireza; Zeighami, Jawaher; Calame, Daniel; Marafi, Dana; Duan, Ruizhi; Boehnke, Adrian; Clark, Gary D; Rosenfeld, Jill A; Mohila, Carrie A; Steel, Dora; Chopra, Saurabh; Sharma, Suvasini; Kohlschmidt, Nicolai; Patzer, Steffi; Saffari, Afshin; Ebrahimi-Fakhari, Darius; Çavdartepe, Büşra Eser; Chang, Irene J; Beckman, Erika; Peters, Renate; Fennell, Andrew Paul; Lo, Bernice; Averdunk, Luisa; Distelmaier, Felix; Baethmann, Martina; Elmslie, Frances; Joost, Kairit; Nampoothiri, Sheela; Yesodharan, Dhanya; Mandel, Hanna; Kimball, Amy; Kline, Antonie D; Mignot, Cyril; Keren, Boris; Laugel, Vincent; Õunap, Katrin; Devadathan, Kalpana; van Berkestijn, Frederique M C; Silwal, Arpana; Koene, Saskia; Verma, Sumit; Karim, Mohammed Yousuf; Boubidi, Chahynez; Aziz, Majid; ElGhazali, Gehad; Mattas, Lauren; Miryounesi, Mohammad; Hashemi-Gorji, Farzad; Alavi, Shahryar; Nouri, Nayereh; Noruzinia, Mehrdad; Kavousi, Saeideh; Kamath, Arveen; Jayawant, Sandeep; Saneto, Russell; Haridy, Nourelhoda A; Kart, Pinar Ozkan; Cansu, Ali; Joubert, Madeleine; Beneteau, Claire; Stuurman, Kyra E; Wilke, Martina; Barakat, Tahsin Stefan; Tajsharghi, Homa; Scardamaglia, Annarita; Vallian, Sadeq; Hız, Semra; Shoeibi, Ali; Boostani, Reza; Hashemi, Narges; Babaei, Meisam; Alsaleh, Norah Saleh; Porter, Julie; Attié-Bitach, Tania; Marzin, Pauline; Wicher, Dorota; Gold, Jessica I; Schuler, Elisabeth; Kashgari, Amna; Alanazi, Rakan F; Eyaid, Wafaa; Engelen, Marc; Langeveld, Mirjam; Stüve, Burkhard; Li, Yun; Yigit, Gökhan; Wollnik, Bernd; Monje, Mariana H G; Krainc, Dimitri; Mencacci, Niccolò E; Bakhtiari, Somayeh; Kruer, Michael; Argilli, Emanuela; Sherr, Elliott; Jamshidi, Yalda; Karimiani, Ehsan Ghayoor; Cheung, Yiu Wing Sunny; Karin, Ivan; Zifarelli, Giovanni; Bauer, Peter; Chung, Wendy K; Lupski, James R; Kurian, Manju A; Dötsch, Jörg; von Kleist-Retzow, Jürgen-Christoph; Klopstock, Thomas; Wagner, Matias; Yip, Calvin; Roos, Andreas; Carsetti, Rita; Dionisi-Vici, Carlo; Gautel, Mathias; Duchen, Michael R; Antebi, Adam; Houlden, Henry; Fanto, Manolis; Jungbluth, Heinz

Reliability of high-quantity human brain organoids for modeling microcephaly, glioma invasion and drug screening.

大量人脑类器官在模拟小头畸形、神经胶质瘤侵袭和药物筛选方面的可靠性

Ramani Anand, Pasquini Giovanni, Gerkau Niklas J, Jadhav Vaibhav, Vinchure Omkar Suhas, Altinisik Nazlican, Windoffer Hannes, Muller Sarah, Rothenaigner Ina, Lin Sean, Mariappan Aruljothi, Rathinam Dhanasekaran, Mirsaidi Ali, Goureau Olivier, Ricci-Vitiani Lucia, D'Alessandris Quintino Giorgio, Wollnik Bernd, Muotri Alysson, Freifeld Limor, Jurisch-Yaksi Nathalie, Pallini Roberto, Rose Christine R, Busskamp Volker, Gabriel Elke, Hadian Kamyar, Gopalakrishnan Jay