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

SMN1 variants identified by false-positive SMA newborn screening tests: Therapeutic hurdles and functional and epidemiological solutions

通过SMA新生儿筛查假阳性结果识别出的SMN1变异:治疗难题及功能和流行病学解决方案

Wirth, Brunhilde; Das, Joyosmita; Kölbel, Heike; Goh, Shuxiang; Farrar, Michelle A; Piano, Valentina; Zetzsche, Sebastian; Fuhrmann, Nico; Becker, Jutta; Karakaya, Mert; Zhang, Yougang; Cao, Yuqing; Taghipour-Sheshdeh, Afsaneh; Stringer, Brett W; Giacomotto, Jean

Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder.

LRRC45 的双等位基因变异会损害纤毛发生并导致严重的神经系统疾病

Radhakrishnan Periyasamy, Quadri Neha, Erger Florian, Fuhrmann Nico, Geist Otilia-Maria, Netzer Christian, Khyriem Ibakordor, Muranjan Mamta, Udani Vrajesh, Yeole Mayuri, Mascarenhas Selinda, Limaye Sanket, Siddiqui Shahyan, Upadhyai Priyanka, Shukla Anju

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.

雄激素介导皮拉罗夫斯基-比约恩松综合征的性二态性

Anderson Kimberley Jade, Thorolfsdottir Eirny Tholl, Nodelman Ilana M, Halldorsdottir Sara Tholl, Benonisdottir Stefania, Alghamdi Malak, Almontashiri Naif, Barry Brenda J, Begemann Matthias, Britton Jacquelyn F, Burke Sarah, Cogne Benjamin, Cohen Ana S A, de Diego Boguñá Carles, Eichler Evan E, Engle Elizabeth C, Fahrner Jill A, Faivre Laurence, Fradin Mélanie, Fuhrmann Nico, Gao Christine W, Garg Gunjan, Grečmalová Dagmar, Grippa Mina, Harris Jacqueline R, Hoekzema Kendra, Hershkovitz Tova, Hubbard Sydney, Janssens Katrien, Jurgens Julie A, Kmoch Stanislav, Knopp Cordula, Koptagel Meral Aktas, Ladha Farah A, Lapunzina Pablo, Lindau Tobias, Meuwissen Marije, Minicucci Andreina, Neuhaus Emily, Nizon Mathilde, Nosková Lenka, Park Kristen, Patel Chirag, Pfundt Rolph, Prasun Pankaj, Rahner Nils, Robin Nathaniel H, Ronspies Carey, Roohi Jasmin, Rosenfeld Jill, Saenz Margarita, Saunders Carol, Stark Zornitza, Thiffault Isabelle, Thull Sarah, Velasco Danita, Velmans Clara, Verseput Jolijn, Vitobello Antonio, Wang Tianyun, Weiss Karin, Wentzensen Ingrid M, Pilarowski Genay, Eysteinsson Thor, Gillentine Madelyn, Stefánsson Kári, Helgason Agnar, Bowman Gregory D, Bjornsson Hans Tomas

Comparison of the ABC and ACMG systems for variant classification

ABC系统与ACMG系统在变异分类中的比较

Houge, Gunnar; Bratland, Eirik; Aukrust, Ingvild; Tveten, Kristian; Žukauskaitė, Gabrielė; Sansovic, Ivona; Brea-Fernández, Alejandro J; Mayer, Karin; Paakkola, Teija; McKenna, Caoimhe; Wright, William; Markovic, Milica Keckarevic; Lildballe, Dorte L; Konecny, Michal; Smol, Thomas; Alhopuro, Pia; Gouttenoire, Estelle Arnaud; Obeid, Katharina; Todorova, Albena; Jankovic, Milena; Lubieniecka, Joanna M; Stojiljkovic, Maja; Buisine, Marie-Pierre; Haukanes, Bjørn Ivar; Lorans, Marie; Roomere, Hanno; Petit, François M; Haanpää, Maria K; Beneteau, Claire; Pérez, Belén; Plaseska-Karanfilska, Dijana; Rath, Matthias; Fuhrmann, Nico; Ferreira, Bibiana I; Stephanou, Coralea; Sjursen, Wenche; Maver, Aleš; Rouzier, Cécile; Chirita-Emandi, Adela; Gonçalves, João; Kuek, Wei Cheng David; Broly, Martin; Haer-Wigman, Lonneke; Thong, Meow-Keong; Tae, Sok-Kun; Hyblova, Michaela; den Dunnen, Johan T; Laner, Andreas

Chromosome-Level Genome Assembly of the Viviparous Eelpout Zoarces viviparus

胎生鳗鳚(Zoarces viviparus)的染色体水平基因组组装

Fuhrmann, Nico; Brasseur, Marie V; Bakowski, Christina E; Podsiadlowski, Lars; Prost, Stefan; Krehenwinkel, Henrik; Mayer, Christoph

De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation

GBF1基因的新生变异和遗传变异与高尔基体碎裂引起的轴突神经病变有关

Mendoza-Ferreira, Natalia; Karakaya, Mert; Cengiz, Nur; Beijer, Danique; Brigatti, Karlla W; Gonzaga-Jauregui, Claudia; Fuhrmann, Nico; Hölker, Irmgard; Thelen, Maximilian P; Zetzsche, Sebastian; Rombo, Roman; Puffenberger, Erik G; De Jonghe, Peter; Deconinck, Tine; Zuchner, Stephan; Strauss, Kevin A; Carson, Vincent; Schrank, Bertold; Wunderlich, Gilbert; Baets, Jonathan; Wirth, Brunhilde

Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy

解开困扰人们50年的OPA1基因突变之谜:首例常染色体显性遗传性视神经萎缩症家族的更多见解

Fuhrmann, Nico; Schimpf, Simone; Kamenisch, York; Leo-Kottler, Beate; Alexander, Christiane; Auburger, Georg; Zrenner, Eberhart; Wissinger, Bernd; Alavi, Marcel V