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

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

RNU2-2基因的双等位基因变异会导致最常见的已知隐性遗传性神经发育障碍。

Greene, Daniel; Mendez, Rodrigo; Lees, Jon; Barbosa, Mafalda; Bruselles, Alessandro; Chiriatti, Luigi; Ferraro, Federico; Mancini, Cecilia; Schot, Rachel; Sleutels, Frank; Bertini, Enrico; Bonner, Devon E; Bouman, Arjan; Brooks, Alice S; Cassini, Thomas A; Ezell, Kimberly M; Gomez-Ospina, Natalia; Kleefstra, Tjitske; O'Donoghue, Michael; Rives, Lynette; Shashi, Vandana; Spillmann, Rebecca C; Wafik, Mohamed; Freson, Kathleen; Barakat, Tahsin Stefan; Tartaglia, Marco; Bernstein, Jonathan A; Mumford, Andrew D; Wheeler, Matthew T; Turro, Ernest

A comprehensive framework for the interpretation of TTN missense variants

用于解释 TTN 错义变异的综合框架

Di Feo, Maria Francesca; Rees, Martin; Lillback, Victoria; Kho, Ay Lin; Meybatova, Angelina; Holt, Mark; Jungbluth, Heinz; Muntoni, Francesco; Baranello, Giovanni; Sarkozy, Anna; Fiorillo, Chiara; Baratto, Serena; Bruno, Claudio; Traverso, Monica; Iacomino, Michele; Pedemonte, Marina; Brolatti, Noemi; Faravelli, Francesca; Zara, Federico; Mandarà, G M Luana; Beggs, Alan H; Genetti, Casie A; Barraza-Flores, Pamela; Rodolico, Carmelo; Messina, Sonia; Schnabel, Franziska; Balogh, Istvan; Szakszon, Katalin; Sarv, Siiri; Õunap, Katrin; Ricci, Federica Silvia; Mussa, Alessandro; Malfatti, Edoardo; Bertini, Enrico Silvio; D'Amico, Adele; Diodato, Daria; Catteruccia, Michela; Ravenscroft, Gianina; Johari, Mridul; Kurbatov, Sergei A; Chausova, Polina; Murtazina, Aysylu; Kuchina, Anna; Shchagina, Olga; Drakos, Minas; Spilioti, Martha; Evangeliou, Athanasios E; Zaganas, Ioannis; Zhong, Huahua; Luo, Sushan; Merlini, Luciano; Nguyen, Cam-Tu-Emilie; Tasca, Giorgio; Reeves, Tara; Mörner, Stellan; Danielsson, Olof; Udd, Bjarne; Gautel, Mathias; Savarese, Marco

Study of POLR3A variants in a family trio suggests mutation-specific pathogenetic mechanisms: insights from integrative OMIC approaches

对一个家族三人组中 POLR3A 变异的研究提示了突变特异性致病机制:来自整合组学方法的启示

Rey, Federica; Casamassa, Alessia; Di Cristofano, Samuele; Esposito, Letizia; Soriano, Amata Amy; Messa, Letizia; Berardo, Clarissa; Hazrati, Mahsa; Ferrone, Ilaria; Bonnet, Maxime; Bruschi, Fabio; Vaia, Ylenia; Marano, Massimo; Bertini, Enrico; Nicita, Francesco; Tonduti, Davide; Zuccotti, Gianvincenzo; Vescovi, Angelo Luigi; Raimondo, Domenico; Rosati, Jessica; Carelli, Stephana; Cereda, Cristina

Recessive variants in CACNB1: a new culprit in congenital myopathy. Expanding the genetic causes of excitation-contraction coupling disorders

CACNB1基因的隐性变异:先天性肌病的新致病因素。拓展兴奋-收缩耦合障碍的遗传病因。

Bertini, Enrico

Neurological manifestations and genotype-phenotype correlations in NDUFAF6-associated mitochondrial disease.

NDUFAF6 相关线粒体疾病的神经系统表现和基因型-表型相关性。

Torraco Alessandra, Alston Charlotte L, Barcia Giulia, Verrigni Daniela, Rizza Teresa, Di Nottia Michela, Altobelli Anastasia, Martinelli Diego, Diodato Daria, Efthymiou Stephanie, Kose Melis, Kriouile Yamna, Lim Albert Z, Morlino Silvia, Siri Barbara, Saadi Nebal Waill, Novelli Antonio, Houlden Henry, Dionisi-Vici Carlo, McFarland Robert, Rötig Agnès, Bertini Enrico, Taylor Robert W, Carrozzo Rosalba

GMPPB-CDG Results in Lysosomal Dysfunction and Acid Alpha-Glucosidase Deficiency.

GMPPB-CDG 导致溶酶体功能障碍和酸性α-葡萄糖苷酶缺乏。

Damiano Carla, Tarallo Antonietta, Gragnaniello Vincenza, Strollo Sandra, Fecarotta Simona, Tuzzi M Rosaria, Polishchuk Elena, Montefusco Sandro, Valanzano Anna, Assunto Antonia, Minopoli Nadia, Casa Roberto Della, Polishchuk Roman, Groen Stijn L M In 't, Medina Diego Luis, Bertini Enrico, Carrozzo Rosalba, Emmerich Julia, Schoser Benedikt, Pijnappel W W M Pim, Parenti Giancarlo

Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022

关于罕见病新生儿基因筛查(gNBS)的偏好、态度和观点:2009年至2022年文献的系统综述和综合分析

Martin, Sylvia; Kyosovska-Peshtenska, Gergana; Audi, Jennifer; Zarakowska, Kaja; Grauman, Åsa; Veldwijk, Jorien; Hauber, Brett; Coulter, Joshua; Fürer, Aileen; Wagner, Alexandra; Piperkova, Aneta; Gross, Edith Sky; Knieling, Ferdinand; Gumus, Gulcin; Zak, Marek; Martinez-Fresno, Maria; Granados, Alicia; Sansen, Stefaan; Man, Yuen; Kirschner, Janbernd; Bruno, Lucia Pia; Bertini, Enrico Silvio; Ottombrino, Silvia; Novelli, Antonio; Agolini, Emanuele; Courbier, Sandra; Garnier, Nicolas; Jackson, Tsungai; Velinov, Branimir; Dubief, Jessie; Raming, Roman; Saier, Christina; Fortunato, Fernanda; Frankova, Vera; Hansson, Mats

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration

通过基因组、表型、功能、结构和深度学习整合,将甲状腺激素转运蛋白MCT8的变异与疾病严重程度联系起来。

Groeneweg, Stefan; van Geest, Ferdy S; Martín, Mariano; Dias, Mafalda; Frazer, Jonathan; Medina-Gomez, Carolina; Sterenborg, Rosalie B T M; Wang, Hao; Dolcetta-Capuzzo, Anna; de Rooij, Linda J; Teumer, Alexander; Abaci, Ayhan; van den Akker, Erica L T; Ambegaonkar, Gautam P; Armour, Christine M; Bacos, Iiuliu; Bakhtiani, Priyanka; Barca, Diana; Bauer, Andrew J; van den Berg, Sjoerd A A; van den Berge, Amanda; Bertini, Enrico; van Beynum, Ingrid M; Brunetti-Pierri, Nicola; Brunner, Doris; Cappa, Marco; Cappuccio, Gerarda; Castellotti, Barbara; Castiglioni, Claudia; Chatterjee, Krishna; Chesover, Alexander; Christian, Peter; Coenen-van der Spek, Jet; de Coo, Irenaeus F M; Coutant, Regis; Craiu, Dana; Crock, Patricia; DeGoede, Christian; Demir, Korcan; Dewey, Cheyenne; Dica, Alice; Dimitri, Paul; Dremmen, Marjolein H G; Dubey, Rachana; Enderli, Anina; Fairchild, Jan; Gallichan, Jonathan; Garibaldi, Luigi; George, Belinda; Gevers, Evelien F; Greenup, Erin; Hackenberg, Annette; Halász, Zita; Heinrich, Bianka; Hurst, Anna C; Huynh, Tony; Isaza, Amber R; Klosowska, Anna; van der Knoop, Marieke M; Konrad, Daniel; Koolen, David A; Krude, Heiko; Kulkarni, Abhishek; Laemmle, Alexander; LaFranchi, Stephen H; Lawson-Yuen, Amy; Lebl, Jan; Leeuwenburgh, Selmar; Linder-Lucht, Michaela; López Martí, Anna; Lorea, Cláudia F; Lourenço, Charles M; Lunsing, Roelineke J; Lyons, Greta; Malikova, Jana Krenek; Mancilla, Edna E; McCormick, Kenneth L; McGowan, Anne; Mericq, Veronica; Lora, Felipe Monti; Moran, Carla; Muller, Katalin E; Nicol, Lindsey E; Oliver-Petit, Isabelle; Paone, Laura; Paul, Praveen G; Polak, Michel; Porta, Francesco; Poswar, Fabiano O; Reinauer, Christina; Rozenkova, Klara; Seckold, Rowen; Seven Menevse, Tuba; Simm, Peter; Simon, Anna; Singh, Yogen; Spada, Marco; Stals, Milou A M; Stegenga, Merel T; Stoupa, Athanasia; Subramanian, Gopinath M; Szeifert, Lilla; Tonduti, Davide; Turan, Serap; Vanderniet, Joel; van der Walt, Adri; Wémeau, Jean-Louis; van Wermeskerken, Anne-Marie; Wierzba, Jolanta; de Wit, Marie-Claire Y; Wolf, Nicole I; Wurm, Michael; Zibordi, Federica; Zung, Amnon; Zwaveling-Soonawala, Nitash; Rivadeneira, Fernando; Meima, Marcel E; Marks, Debora S; Nicola, Juan P; Chen, Chi-Hua; Medici, Marco; Visser, W Edward

Disease spectrum and long-term prognosis of patients with BAG3-associated neuromuscular diseases in Europe

欧洲BAG3相关神经肌肉疾病患者的疾病谱和长期预后

Fernández-Eulate, Gorka; Gitiaux, Cyril; Thiele, Simone; Jungbluth, Heinz; Potulska-Chromik, Anna; Marini-Bettolo, Chiara; Davion, Jean Baptiste; Morís, Germán; Gallardo, Eduard; Olivé, Montse; de Fuenmayor-Fernández de la Hoz, Carlos Pablo; Audic, Frederique; Isapof, Arnaud; Walter, Maggie C; Angelini, Corrado; Bertini, Enrico; Schara-Schmidt, Ulrike; Claeys, Kristl G; Dohrn, Maike F; Dembele, Mohamed; Fer, Frédéric; Brochier, Guy; Evangelista, Teresinha; Kostera-Pruszczyk, Anna; Attarian, Shahram; Straub, Volker; Domínguez-González, Cristina; Vissing, John; Richard, Pascale; Metay, Corinne; Khraiche, Diala; Wahbi, Karim; Stojkovic, Tanya

Plasma versus serum: which is better for proteomic blood biomarker analysis? Evaluation of the novel NULISA platform

血浆与血清:哪种更适合蛋白质组学血液生物标志物分析?新型NULISA平台的评估

Peymani, Fatemeh; Ebihara, Tomohiro; Smirnov, Dmitrii; Kopajtich, Robert; Ando, Masahiro; Bertini, Enrico; Carrozzo, Rosalba; Diodato, Daria; Distelmaier, Felix; Fang, Fang; Ghezzi, Daniele; Hempel, Maja; Iwanicka-Pronicka, Katarzyna; Klopstock, Thomas; Stenton, Sarah L; Lamperti, Costanza; Liu, Zhimei; Murtazina, Aysylu; Okamoto, Yuji; Okazaki, Yasushi; Piekutowska-Abramczuk, Dorota; Rötig, Agnés; Ryzhkova, Oxana; Schlein, Christian; Shagina, Olga; Takashima, Hiroshi; Tsygankova, Polina; Zech, Michael; Meitinger, Thomas; Shimura, Masaru; Murayama, Kei; Prokisch, Holger; Song, Yeunjoo E; Wang, Ping; Laux, Renee A; Fuzzell, Sarada L; Hochstetler, Sherri D; Miskimen, Kristy L; Lynn, Audrey; Wang, Weihuan; Liu, Yining; Moore, Noel C; Gulyayev, Alex V; Dorfsman, Daniel A; Caywood, Laura J; Clouse, Jason E; Herington, Sharlene D; Prough, Michael B; Slifer, Susan H; Adams, Larry D; Whitehead, Patrice G; Vance, Jeffery M; Cuccaro, Michael L; Ogrocki, Paula K; Lerner, Alan J; Pericak‐Vance, Margaret; Scott, William K; Bush, William S; Haines, Jonathan L; Griswold, Anthony J; Akinyemi, Rufus O; Rajabli, Farid; Ayele, Biniyam A; Coker, Motunrayo; Scott, Kyle M; Akinwande, Kazeem; Adams, Larry D; Diala, Samuel; Whitehead, Patrice G; McCauley, Jacob L; Ogunronbi, Mayowa; Hamilton‐Nelson, Kara L; Damasceno, Albertino; Zaman, Andrew F; Zewde, Yared Z; NJAMNSHI, Alfred Kongnyu; Caban‐Holt, Allison M; Ndetei, David; Sarfo, Fred Stephen; Akinyemi, Joshua O; Blanton, Susan H; Akpalu, Albert; Cuccaro, Michael L; Wahab, Kolawole; Gugssa, Seid Ali; McInerney, Katalina F; Obiako, Reginald; Baiyewu, Olusegun; Walker, Richard; Mena, Pedro R; Okubadejo, Njideka U; Martinez, Izri M; Kunkle, Brian W; Paddick, Stella‐Maria; Kalaria, Raj; Ogunniyi, Adesola; Vance, Jeffery M; Reitz, Christiane; Seshadri, Sudha; Guerchet, Maëlenn; Tosto, Giuseppe; Williams, Scott M; Bush, William S; Haines, Jonathan L; Byrd, Goldie S; Pericak‐Vance, Margaret; Farinas, Marissa F; Chen, Yijun; Zeng, Xuemei; Nafash, Michel N; Gogola, Alexandra; Kofler, Julia K; Tudorascu, Dana L; Shaaban, C Elizabeth; Lingler, Jennifer H; Pascoal, Tharick A; Klunk, William E; Villemagne, Victor L; Berman, Sarah B; Sweet, Robert; Kamboh, M Ilyas; Ikonomovic, Milos D; Snitz, Beth E; Cohen, Ann D; Lopez, Oscar L; Karikari, Thomas K