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

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy

POC5基因的双等位基因功能缺失变异会导致视网膜、内分泌和神经肌肉纤毛病综合征。

Vulto-van Silfhout, Anneke T; Jazet, Ingrid M; Yzer, Suzanne; Pas, Jeroen; Demirdas, Serwet; van Rossum, Elisabeth F C; Thiadens, Alberta A H J; van Beek, Ronald; Haer-Wigman, Lonneke; Barge-Schaapveld, Daniela Q C M; Brasch-Andersen, Charlotte; Frost, Simon; Bauwens, Miriam; De Baere, Elfride; Balikova, Irina; Van den Broeck, Filip; Weisz-Hubshman, Monika; Joset, Pascal; Miny, Peter; Filges, Isabel; Kohl, Susanne; De Angeli, Pietro; Kühlewein, Laura; Bodenbender, Jan-Philipp; Haack, Tobias; Poths, Karin; Fernandez-Caballero, Lidia; Corton, Marta; Blanco Kelly, Fiona; Ayuso, Carmen; Martínez-Esteban, Peggy; Vissing, John; Díaz-Manera, Jordi; Straub, Volker; Töpf, Ana; Lin, Siying; Arno, Gavin; Macken, William L; Spillane, Jennifer; Ramachandran, Radha; de Vrieze, Erik; van Ham, Tjakko; Roosing, Susanne; Oud, Machteld M

Inherited Dyslipidemic Splenomegaly: A Genetic Macrophage Storage Disorder Caused by Disruptive Apolipoprotein E (APOE) Variants

遗传性血脂异常性脾肿大:一种由载脂蛋白E (APOE) 变异引起的遗传性巨噬细胞贮积症

Ferreira, Elise A; Oud, Machteld M; van der Crabben, Saskia N; Versloot, Miranda; Goorden, Susan M I; van Karnebeek, Clara D M; Kroon, Jeffrey; Langeveld, Mirjam

Variants in WASHC3, a component of the WASH complex, cause short stature, variable neurodevelopmental abnormalities, and distinctive facial dysmorphism

WASHC3基因(WASH复合体的一个组成部分)的变异会导致身材矮小、不同程度的神经发育异常和独特的面部畸形。

Jee, Youn Hee; Lui, Julian C; Marafi, Dana; Xia, Zhi-Jie; Bhatia, Ruchika; Zhou, Elaine; Herman, Isabella; Temnycky, Adrian; Whalen, Philip; Elliot, Gene; Leschek, Ellen W; Wijngaard, Robin; van Beek, Ronald; de Vreugd, Annemarie; de Vries, Maaike C; van Karnebeek, Clara D M; Oud, Machteld M; Markello, Thomas C; Barnes, Kevin M; Alrohaif, Hadil; Freeze, Hudson H; Gahl, William A; Malicdan, May Christine V; Posey, Jennifer E; Lupski, James R; Baron, Jeffrey

Missense variants in TUBA4A cause myo-tubulinopathies

TUBA4A基因的错义变异会导致肌微管病

Johari, Mridul; Folland, Chiara; Saito, Yoshihiko; Oud, Machteld M; Parmar, Jevin M; Töpf, Ana; Kurbatov, Sergei; Ampleeva, Maria; Zakharova, Ekaterina Y; Chekmareva, Irina A; Shirokova, Ksenia S; Atiakshin, Dmitrii; Gardeitchik, Thatjana; Kamsteeg, Erik-Jan; Medici, Evita; Kaat, Laura Donker; Bruels, Christine C; Stafki, Seth A; Estrella, Elicia A; Littel, Hannah R; Kunkel, Louis M; Kang, Peter B; Osei-Owusu, Ikeoluwa; Pais, Lynn; O'Leary, Melaine; Austin-Tse, Christina; O'Donnell-Luria, Anne; Mangilog, Brian; Radio, Francesca Clementina; D'Amico, Adele; Ciolfi, Andrea; Tartaglia, Marco; Perrin, Aurélien; Van Goethem, Charles; Sole, Guilhem; Martin-Négrier, Marie-Laure; Cossée, Mireille; Genetti, Casie A; Valivullah, Zaheer M; Milic, Vedrana; Kovacevic, Gordana; Kosac, Ana; Moreno, Cristiane A M; Camelo, Clara Gontijo; Zanoteli, Edmar; Fahey, Michael C; Beggs, Alan H; Vissing, John; Straub, Volker; Savarese, Marco; Tasca, Giorgio; Voermans, Nicol; Laing, Nigel G; Udd, Bjarne; Nishino, Ichizo; Ravenscroft, Gianina

Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa

利用自动纤毛分析来鉴定非综合征性视网膜色素变性患者的新型 INPP5E 变异

Kae R Whiting, Lonneke Haer-Wigman, Ralph J Florijn, Ronald van Beek, Machteld M Oud, Astrid S Plomp, Camiel J F Boon, Hester Y Kroes, Ronald Roepman

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis

双等位基因 SNAPC4 变异导致整体选择性剪接失调,并导致神经退化和进行性痉挛性截瘫

F Graeme Frost, Marie Morimoto, Prashant Sharma, Lyse Ruaud, Newell Belnap, Daniel G Calame, Yuri Uchiyama, Naomichi Matsumoto, Machteld M Oud, Elise A Ferreira, Vinodh Narayanan, Sampath Rangasamy, Matt Huentelman, Lisa T Emrick, Ikuko Sato-Shirai, Satoko Kumada, Nicole I Wolf, Peter J Steinbach, Y

Inherited metabolic disorders in adults: systematic review on patient characteristics and diagnostic yield of broad sequencing techniques (exome and genome sequencing)

成人遗传性代谢紊乱:患者特征及广泛测序技术(外显子组测序和基因组测序)诊断率的系统评价

Ferreira, Elise A; Buijs, Mark J N; Wijngaard, Robin; Daams, Joost G; Datema, Mareen R; Engelen, Marc; van Karnebeek, Clara D M; Oud, Machteld M; Vaz, Frédéric M; Wamelink, Mirjam M C; van der Crabben, Saskia N; Langeveld, Mirjam

How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques

“阴性”外显子组测序结果后的后续步骤:遗传诊断、局限性、挑战及新兴多组学技术的综述

Wortmann, Saskia B; Oud, Machteld M; Alders, Mariëlle; Coene, Karlien L M; van der Crabben, Saskia N; Feichtinger, René G; Garanto, Alejandro; Hoischen, Alex; Langeveld, Mirjam; Lefeber, Dirk; Mayr, Johannes A; Ockeloen, Charlotte W; Prokisch, Holger; Rodenburg, Richard; Waterham, Hans R; Wevers, Ron A; van de Warrenburg, Bart P C; Willemsen, Michel A A P; Wolf, Nicole I; Vissers, Lisenka E L M; van Karnebeek, Clara D M

Protection against Marburg Virus and Sudan Virus in NHP by an Adenovector-Based Trivalent Vaccine Regimen Is Correlated to Humoral Immune Response Levels

基于腺病毒载体的三价疫苗方案对非人灵长类动物马尔堡病毒和苏丹病毒的保护作用与体液免疫反应水平相关

Tiemessen, Machteld M; Solforosi, Laura; Dekking, Liesbeth; Czapska-Casey, Dominika; Serroyen, Jan; Sullivan, Nancy J; Volkmann, Ariane; Pau, Maria Grazia; Callendret, Benoit; Schuitemaker, Hanneke; Luhn, Kerstin; Zahn, Roland; Roozendaal, Ramon

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis

相同的IFT140变异导致不同的骨骼纤毛病表型——准确诊断的挑战

Walczak-Sztulpa, Joanna; Wawrocka, Anna; Doornbos, Cenna; van Beek, Ronald; Sowińska-Seidler, Anna; Jamsheer, Aleksander; Bukowska-Olech, Ewelina; Latos-Bieleńska, Anna; Grenda, Ryszard; Bongers, Ernie M H F; Schmidts, Miriam; Obersztyn, Ewa; Krawczyński, Maciej R; Oud, Machteld M