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

A 5' UTR CCG expansion in TBC1D7 causes oculopharyngodistal myopathy

TBC1D7基因中5'UTR CCG扩增导致眼咽远端肌病

Van de Vondel, Liedewei; Curro, Riccardo; Facchini, Stefano; Xu, Isaac R L; De Winter, Jonathan; Quartesan, Ilaria; Monticelli, Alice; Alonso-Jimenez, Alicia; De Ridder, Willem; Bertini, Alessandro; Alves, Gustavo; Pizzuto, Francesca; Ugolini, Hermione; Pellerin, David; De Pooter, Tim; Merve, Ashirwad; Machado, Pedro; Sagath, Lydia; Neveling, Kornelia; Hoischen, Alexander; Hanna, Michael G; Pitceathly, Robert D S; Houlden, Henry; Tucci, Arianna; Bugiardini, Enrico; Brady, Stefen; Roberts, Mark; Danzi, Matt C; Züchner, Stephan; Baets, Jonathan; Cortese, Andrea

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing

利用高保真长读长基因组测序揭示未确诊的罕见病病例

Steyaert, Wouter; Sagath, Lydia; Demidov, German; Yépez, Vicente A; Esteve-Codina, Anna; Gagneur, Julien; Ellwanger, Kornelia; Derks, Ronny; Weiss, Marjan; den Ouden, Amber; van den Heuvel, Simone; Swinkels, Hilde; Zomer, Nick; Steehouwer, Marloes; O'Gorman, Luke; Astuti, Galuh; Neveling, Kornelia; Schüle, Rebecca; Xu, Jishu; Synofzik, Matthis; Beijer, Danique; Hengel, Holger; Schöls, Ludger; Claeys, Kristl G; Baets, Jonathan; Van de Vondel, Liedewei; Ferlini, Alessandra; Selvatici, Rita; Morsy, Heba; Saeed Abd Elmaksoud, Marwa; Straub, Volker; Müller, Juliane; Pini, Veronica; Perry, Luke; Sarkozy, Anna; Zaharieva, Irina; Muntoni, Francesco; Bugiardini, Enrico; Polavarapu, Kiran; Horvath, Rita; Reid, Evan; Lochmüller, Hanns; Spinazzi, Marco; Savarese, Marco; Matalonga, Leslie; Laurie, Steven; Brunner, Han G; Graessner, Holm; Beltran, Sergi; Ossowski, Stephan; Vissers, Lisenka E L M; Gilissen, Christian; Hoischen, Alexander

Biallelic NSUN3 Variants Cause Diverse Phenotypic Spectrum Disease: From Isolated Optic Atrophy to Severe Early-Onset Mitochondrial Disorder.

双等位基因 NSUN3 变异导致多种表型谱疾病:从孤立性视神经萎缩到严重的早发性线粒体疾病

Jurkute Neringa, Brennenstuhl Heiko, Kustermann Monika, Van Haute Lindsey, Mutti Christian D, Bugiardini Enrico, Handa Takayuki, Shimura Masaru, Petzold Axel, Acheson James, Robson Anthony G, Macken William L, Hanna Michael G, Pitceathly Robert D S, Merve Ashirwad, Kotzaeridou Urania, Kölker Stefan, Freilinger Michael, Erdler Marcus, Bittner Reginald E, Mayr Johannes A, Okazaki Yasushi, Murayama Kei, Prokisch Holger, Webster Andrew R, Minczuk Michal, Arno Gavin, Pemp Berthold, Hoffmann Georg F, Schmidt Wolfgang M, Yu-Wai-Man Patrick

Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability

基因假基因倒位是缺失遗传力的一个隐蔽来源

Quartesan, Ilaria; Facchini, Stefano; Manini, Arianna; Schnekenberg, Ricardo Parolin; Pisciotta, Chiara; Magri, Stefania; Negri, Sara; Gaetano, Carlo; Rebelo, Adriana; Raposo, Jacquelyn Schatzman; Mazanec, Radim; Curro, Riccardo; Dominik, Natalia; Efthymiou, Stephanie; Laurà, Matilde; Grider, Tiffany; Feely, Shawna Me; Fridman, Vera; Bertini, Alessandro; Alves, Gustavo Maximiano; Ferullo, Lucia; Ghia, Arianna; Caccia, Claudio; Balistreri, Francesca; Saveri, Paola; Crivellari, Luca; Moroni, Isabella; Danti, Federica Rachele; Mongini, Tiziana; Taroni, Franco; Auer-Grumbach, Michaela; Bugiardini, Enrico; Sleigh, James N; Tucci, Arianna; Houlden, Henry; Laššuthová, Petra; Seeman, Pavel; Basile, Anna; Giorgio, Elisa; Shy, Michael E; Zuchner, Stephan; Reilly, Mary M; Pareyson, Davide; Cortese, Andrea

Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

作者更正:ABCD3基因中的CCG扩增会导致欧洲血统个体出现眼咽远端肌病。

Cortese, Andrea; Beecroft, Sarah J; Facchini, Stefano; Curro, Riccardo; Cabrera-Serrano, Macarena; Stevanovski, Igor; Chintalaphani, Sanjog R; Gamaarachchi, Hasindu; Weisburd, Ben; Folland, Chiara; Monahan, Gavin; Scriba, Carolin K; Dofash, Lein; Johari, Mridul; Grosz, Bianca R; Ellis, Melina; Fearnley, Liam G; Tankard, Rick; Read, Justin; Merve, Ashirwad; Dominik, Natalia; Vegezzi, Elisa; Schnekenberg, Ricardo P; Fernandez-Eulate, Gorka; Masingue, Marion; Giovannini, Diane; Delatycki, Martin B; Storey, Elsdon; Gardner, Mac; Amor, David J; Nicholson, Garth; Vucic, Steve; Henderson, Robert D; Robertson, Thomas; Dyke, Jason; Fabian, Vicki; Mastaglia, Frank; Davis, Mark R; Kennerson, Marina; Quinlivan, Ros; Hammans, Simon; Tucci, Arianna; Bahlo, Melanie; McLean, Catriona A; Laing, Nigel G; Stojkovic, Tanya; Houlden, Henry; Hanna, Michael G; Deveson, Ira W; Lockhart, Paul J; Lamont, Phillipa J; Fahey, Michael C; Bugiardini, Enrico; Ravenscroft, Gianina

Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy

面肩肱型肌营养不良症中顺式D4Z4重复序列重复等位基因的常染色体显性遗传

Lemmers, Richard J L F; Butterfield, Russell; van der Vliet, Patrick J; de Bleecker, Jan L; van der Pol, Ludo; Dunn, Diane M; Erasmus, Corrie E; D'Hooghe, Marc; Verhoeven, Kristof; Balog, Judit; Bigot, Anne; van Engelen, Baziel; Statland, Jeffrey; Bugiardini, Enrico; van der Stoep, Nienke; Evangelista, Teresinha; Marini-Bettolo, Chiara; van den Bergh, Peter; Tawil, Rabi; Voermans, Nicol C; Vissing, John; Weiss, Robert B; van der Maarel, Silvère M

The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India

来自印度北部的首例经基因确诊的面肩肱型肌营养不良症患者群体

Vishnu, Venugopalan Y; Lemmers, Richard J L F; Reyaz, Alisha; Mishra, Rinkle; Ahmad, Tanveer; van der Vliet, Patrick J; Kretkiewicz, Marcelina M; Macken, William L; Efthymiou, Stephanie; Dominik, Natalia; Morrow, Jasper M; Bhatia, Rohit; Wilson, Lindsay A; Houlden, Henry; Hanna, Michael G; Bugiardini, Enrico; van der Maarel, Silvère M; Srivastava, M V Padma

Mutations in alpha-B-crystallin cause autosomal dominant axonal Charcot-Marie-Tooth disease with congenital cataracts

α-B-晶状体蛋白的突变会导致常染色体显性遗传的轴索型夏科-马里-图斯病,并伴有先天性白内障。

Cortese, Andrea; Currò, Riccardo; Ronco, Riccardo; Blake, Julian; Rossor, Alex M; Bugiardini, Enrico; Laurà, Matilde; Warner, Tom; Yousry, Tarek; Poh, Roy; Polke, James; Rebelo, Adriana; Dohrn, Maike F; Saporta, Mario; Houlden, Henry; Zuchner, Stephan; Reilly, Mary M

PYROXD1-associated myopathy

PYROXD1相关肌病

D'Costa, Matthew Selwyn; Bugiardini, Enrico; Merve, Ashirwad; Morrow, Jasper M

Neuromuscular disease genetics in under-represented populations: increasing data diversity

神经肌肉疾病遗传学在代表性不足人群中的研究:提高数据多样性

Wilson, Lindsay A; Macken, William L; Perry, Luke D; Record, Christopher J; Schon, Katherine R; Frezatti, Rodrigo S S; Raga, Sharika; Naidu, Kireshnee; Köken, Özlem Yayıcı; Polat, Ipek; Kapapa, Musambo M; Dominik, Natalia; Efthymiou, Stephanie; Morsy, Heba; Nel, Melissa; Fassad, Mahmoud R; Gao, Fei; Patel, Krutik; Schoonen, Maryke; Bisschoff, Michelle; Vorster, Armand; Jonvik, Hallgeir; Human, Ronel; Lubbe, Elsa; Nonyane, Malebo; Vengalil, Seena; Nashi, Saraswati; Srivastava, Kosha; Lemmers, Richard J L F; Reyaz, Alisha; Mishra, Rinkle; Töpf, Ana; Trainor, Christina I; Steyn, Elizabeth C; Mahungu, Amokelani C; van der Vliet, Patrick J; Ceylan, Ahmet Cevdet; Hiz, A Semra; Çavdarlı, Büşranur; Semerci Gündüz, C Nur; Ceylan, Gülay Güleç; Nagappa, Madhu; Tallapaka, Karthik B; Govindaraj, Periyasamy; van der Maarel, Silvère M; Narayanappa, Gayathri; Nandeesh, Bevinahalli N; Wa Somwe, Somwe; Bearden, David R; Kvalsund, Michelle P; Ramdharry, Gita M; Oktay, Yavuz; Yiş, Uluç; Topaloğlu, Haluk; Sarkozy, Anna; Bugiardini, Enrico; Henning, Franclo; Wilmshurst, Jo M; Heckmann, Jeannine M; McFarland, Robert; Taylor, Robert W; Smuts, Izelle; van der Westhuizen, Francois H; Sobreira, Claudia Ferreira da Rosa; Tomaselli, Pedro J; Marques, Wilson Jr; Bhatia, Rohit; Dalal, Ashwin; Srivastava, M V Padma; Yareeda, Sireesha; Nalini, Atchayaram; Vishnu, Venugopalan Y; Thangaraj, Kumarasamy; Straub, Volker; Horvath, Rita; Chinnery, Patrick F; Pitceathly, Robert D S; Muntoni, Francesco; Houlden, Henry; Vandrovcova, Jana; Reilly, Mary M; Hanna, Michael G