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

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

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

致病性UNC13A变异体通过损害突触功能导致神经发育综合征。

Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H; Marshall, Christian R; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M; de Kruiff, Chris C; Rajabi, Farrah; Rodan, Lance H; Coury, Stephanie A; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P; Kraemer, Dennis; Prada, Carlos E; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G Christoph; Bamshad, Michael J; Campeau, Philippe M; Lehman, Anna; Hendon, Laura G; Wentzensen, Ingrid M; Monaghan, Kristin G; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K; Seeley, Andrea H; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J; Washington, Camerun; Stevens, Servi J C; Heijligers, Malou; Alkuraya, Fowzan S; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P; Kühn, Andrea A; Thoms, Sven; Morrie, Ryan D; Mekhoubad, Shila; Green, Eric M; Barmada, Sami J; Gitler, Aaron D; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S; Rauch, Anita; Lipstein, Noa

Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder

DDX17基因的单等位基因新生突变会导致神经发育障碍

Seaby, Eleanor G; Godwin, Annie; Meyer-Dilhet, Géraldine; Clerc, Valentine; Grand, Xavier; Fletcher, Tia; Monteiro, Laloe; Kerkhofs, Martijn; Carelli, Valerio; Palombo, Flavia; Seri, Marco; Olivucci, Giulia; Grippa, Mina; Ciaccio, Claudia; D'Arrigo, Stefano; Iascone, Maria; Bermudez, Marion; Fischer, Jan; Di Donato, Nataliya; Goesswein, Sophie; Leung, Marco L; Koboldt, Daniel C; Myers, Cortlandt; Arnadottir, Gudny Anna; Stefansson, Kari; Sulem, Patrick; Goldberg, Ethan M; Bruel, Ange-Line; Tran-Mau-Them, Frederic; Willems, Marjolaine; Bjornsson, Hans Tomas; Hognason, Hakon Bjorn; Thorolfsdottir, Eirny Tholl; Agolini, Emanuele; Novelli, Antonio; Zampino, Giuseppe; Onesimo, Roberta; Lachlan, Katherine; Baralle, Diana; Rehm, Heidi L; O'Donnell-Luria, Anne; Courchet, Julien; Guille, Matt; Bourgeois, Cyril F; Ennis, Sarah

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

ACTL6B相关常染色体隐性和显性遗传性脑发育障碍的临床和遗传学特征

Cali, Elisa; Quirin, Tania; Rocca, Clarissa; Efthymiou, Stephanie; Riva, Antonella; Marafi, Dana; Zaki, Maha S; Suri, Mohnish; Dominguez, Roberto; Elbendary, Hasnaa M; Alavi, Shahryar; Abdel-Hamid, Mohamed S; Morsy, Heba; Mau-Them, Frederic Tran; Nizon, Mathilde; Tesner, Pavel; Ryba, Lukáš; Zafar, Faisal; Rana, Nuzhat; Saadi, Nebal W; Firoozfar, Zahra; Gencpinar, Pinar; Unay, Bulent; Ustun, Canan; Bruel, Ange-Line; Coubes, Christine; Stefanich, Jennifer; Sezer, Ozlem; Agolini, Emanuele; Novelli, Antonio; Vasco, Gessica; Lettori, Donatella; Milh, Mathieu; Villard, Laurent; Zeidler, Shimriet; Opperman, Henry; Strehlow, Vincent; Issa, Mahmoud Y; El Khassab, Hebatallah; Chand, Prem; Ibrahim, Shahnaz; Rashidi-Nezhad, Ali; Miryounesi, Mohammad; Larki, Pegah; Morrison, Jennifer; Cristian, Ingrid; Thiffault, Isabelle; Bertsch, Nicole L; Noh, Grace J; Pappas, John; Moran, Ellen; Marinakis, Nikolaos M; Traeger-Synodinos, Joanne; Hosseini, Susan; Abbaszadegan, Mohammad Reza; Caumes, Roseline; Vissers, Lisenka E L M; Neshatdoust, Maedeh; Montazer Zohour, Mostafa; El Fahime, Elmostafa; Canavati, Christina; Kamal, Lara; Kanaan, Moien; Askander, Omar; Voinova, Victoria; Levchenko, Olga; Haider, Shahzhad; Halbach, Sara S; Elias Maia, Rayana; Mansoor, Salehi; Jain, Vivek; Tawde, Sanjukta; Challa, Viveka Santhosh R; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Victor, Lucas Alves; Pinero-Banos, Benito; Hague, Jennifer; ElAwady, Heba Ahmed; Maria de Miranda Henriques-Souza, Adelia; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Idkaidak, Sara; Alqarajeh, Firas; Atawneh, Osama; Mor-Shaked, Hagar; Harel, Tamar; Zifarelli, Giovanni; Bauer, Peter; Kok, Fernando; Kitajima, Joao Paulo; Monteiro, Fabiola; Josahkian, Juliana; Lesca, Gaetan; Chatron, Nicolas; Ville, Dorothe; Murphy, David; Neul, Jeffrey L; Mullegama, Sureni V; Begtrup, Amber; Herman, Isabella; Mitani, Tadahiro; Posey, Jennifer E; Tay, Chee Geap; Javed, Iram; Carr, Lucinda; Kanani, Farah; Beecroft, Fiona; Hane, Lee; Abdelkreem, Elsayed; Macek, Milan; Bispo, Luciana; Elmaksoud, Marwa Abd; Hashemi-Gorji, Farzad; Pehlivan, Davut; Amor, David J; Jamra, Rami Abou; Chung, Wendy K; Ghayoor Karimiani, Eshan; Campeau, Philippe M; Alkuraya, Fowzan S; Pagnamenta, Alistair T; Gleeson, Joseph G; Lupski, James R; Striano, Pasquale; Moreno-De-Luca, Andres; Lafontaine, Denis L J; Houlden, Henry; Maroofian, Reza

Expanding clinicopathologic knowledge in high-grade glioma with pleomorphic and pseudopapillary features (HPAP): a report of two cases

拓展具有多形性和假乳头状特征的高级别胶质瘤(HPAP)的临床病理学知识:两例病例报告

Rossi, Sabrina; Giovannoni, Isabella; Patrizi, Sara; Mafficcini, Andrea; Piccirilli, Eleonora; Ricciardi, Giuseppe Kenneth; Megaro, Giacomina; Arienzo, Francesca; Tancredi, Chantal; Agolini, Emanuele; Carai, Andrea; Mastronuzzi, Angela; Giannini, Caterina; Locatelli, Franco; Alaggio, Rita; Colafati, Giovanna Stefania; Alesi, Viola; Miele, Evelina; Barresi, Valeria

Usmani-Riazuddin Syndrome: Functional Characterization of a Novel c.196G>A Variant in the AP1G1 Gene and Phenotypic Insights Using Zebrafish as a Vertebrate Model

乌斯马尼-里亚祖丁综合征:AP1G1基因中一种新型c.196G>A变异的功能表征及以斑马鱼为脊椎动物模型的表型分析

Imperatore, Valentina; Mirarchi, Alessandra; Agolini, Emanuele; Astolfi, Andrea; Barreca, Maria Letizia; Novelli, Antonio; Vinciarelli, Elisa; Ferretti, Sara; Zizioli, Daniela; Borsani, Giuseppe; Arcuri, Cataldo; Prontera, Paolo

Assessment of potential drug-drug interactions in patients with hereditary angioedema from the ITACA cohort: simulations from a real-life dataset considering danazol versus berotralstat

ITACA队列中遗传性血管性水肿患者潜在药物相互作用的评估:基于真实世界数据集的达那唑与贝罗曲司他对比模拟。

Zanichelli, Andrea; Cattaneo, Dario; Gidaro, Antonio; Senter, Riccardo; Arcoleo, Francesco; Accardo, Pietro; Bignardi, Donatella; Borrelli, Paolo; Colangelo, Caterina; De Pasquale, Tiziana; Firinu, Davide; Perego, Francesca; Triggiani, Massimo; Spadaro, Giuseppe; Cogliati, Chiara; Bizzi, Emanuele; Popescu Janu, Valentina; Guarino, Maria Domenica; Quattrocchi, Paolina; Brussino, Luisa; Rossi, Oliviero; Triggianese, Paola; Agolini, Stefano; Giardino, Francesco; Montinaro, Vincenzo; Cancian, Mauro

TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project

TREAT:作为Screen4Care项目的一部分,用于新生儿基因组筛查的系统性和包容性基因选择过程。

Saier, Christina; Sansen, Stefaan; Berghout, Joanne; Freyler, Kathrin; Einhorn, Moshe; Einhorn, Yaron; Matalonga, Leslie; Beltran, Sergi; Novelli, Antonio; Selvatici, Rita; Fortunato, Fernanda; Montanari, Silvia; Martinez-Fresno, Maria; Gumus, Gulcin; Agolini, Emanuele; Garnier, Nicolas; Ferlini, Alessandra; Bertini, Enrico; Kirschner, Janbernd

Partial Loss of NEMO Function in a Female Carrier with No Incontinentia Pigmenti

无色素失禁的女性携带者 NEMO 功能部分丧失

Cristina Cifaldi, Mayla Sgrulletti, Silvia Di Cesare, Beatrice Rivalta, Agolini Emanuele, Lucia Colucci, Giusella Maria Francesca Moscato, Marta Matraxia, Chiara Perrone, Gigliola Di Matteo, Caterina Cancrini, Viviana Moschese

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

剪接体功能障碍会导致具有重叠特征的神经发育障碍。

Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R; Zhou, Yijing; Bosch, Daniëlle Gm; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K; Pérez-Jurado, Luis A; Aznar-Laín, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Kremlikova Pourova, Radka; Sedlacek, Zdenek; Keena, Beth A; March, Michael E; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J; Harr, Margaret H; Lemire, Gabrielle; Boycott, Kym M; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M; Motazacker, Mahdi M; Martinez-Agosto, Julian A; Rabani, Ahna M; McCormick, Elizabeth M; Falk, Marni J; Ruggiero, Sarah M; Helbig, Ingo; Møller, Rikke S; Tessarollo, Lino; Tomassoni Ardori, Francesco; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M; Ganapathi, Mythily; Gelb, Bruce D; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sébastien; Jizi, Khadijé; Bruel, Ange-Line; Quelin, Chloé; Misra, Vinod K; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gökhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna Ce; Thompson, Michelle L; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C; Shashi, Vandana; Higginbotham, Edward J; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoît; Tran Mau-Them, Frederic; Fernandez Garcia Moya, Luis; García-Miñaúr, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlène; Hadj Habdallah, Hamza; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Véronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert Ba; van Slegtenhorst, Marjon A; Brooks, Alice S; Cogne, Benjamin; Rambaud, Thomas; Tümer, Zeynep; Zackai, Elaine H; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon