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

Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants

扩展DYT-VPS16的遗传和表型谱:剪接位点变异的重要性

Westenberger, Ana; Verdura, Edgard; Radefeldt, Mandy; Sanderson, Leslie E; Tripolszki, Kornelia; Marcé-Grau, Anna; Cazurro-Gutiérrez, Ana; Nikoncuk, Anita; Herzog, Rebecca; Al-Ali, Ruslan; Ferreira, Mariana; Almeida, Ligia S; Silveira, Tainá Regina Damaceno; Khan, Suliman; Maia, Raphael Doyle; Klivényi, Péter; Salamon, András; Baltaci, Volkan; Subasioglu, Asli; Prada-Arismendy, Jeanette; Čuturilo, Goran; Loens, Sebastian; Tadic, Vera; Maystadt, Isabelle; Karadurmus, Deniz; Leube, Barbara; De Winter, Jonathan; Monticelli, Alice; De Waele, Liesbeth; Baets, Jonathan; Vinkšel, Mateja; Maver, Aleš; Tschopp, Lorena; Ziegler, Gabriela; Sanguinetti, Ana; Lohmann, Katja; Barakat, Tahsin Stefan; Bauer, Peter; Perez-Dueñas, Belén; Bertoli-Avella, Aida M

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

针对 HNRNPK 基因的特异性 DNA 甲基化特征能够解释错义变异,并扩展 Au-Kline 综合征的表型谱。

Choufani, Sanaa; McNiven, Vanda; Cytrynbaum, Cheryl; Jangjoo, Maryam; Adam, Margaret P; Bjornsson, Hans T; Harris, Jacqueline; Dyment, David A; Graham, Gail E; Nezarati, Marjan M; Aul, Ritu B; Castiglioni, Claudia; Breckpot, Jeroen; Devriendt, Koen; Stewart, Helen; Banos-Pinero, Benito; Mehta, Sarju; Sandford, Richard; Dunn, Carolyn; Mathevet, Remi; van Maldergem, Lionel; Piard, Juliette; Brischoux-Boucher, Elise; Vitobello, Antonio; Faivre, Laurence; Bournez, Marie; Tran-Mau, Frederic; Maystadt, Isabelle; Fernández-Jaén, Alberto; Alvarez, Sara; García-Prieto, Irene Díez; Alkuraya, Fowzan S; Alsaif, Hessa S; Rahbeeni, Zuhair; El-Akouri, Karen; Al-Mureikhi, Mariam; Spillmann, Rebecca C; Shashi, Vandana; Sanchez-Lara, Pedro A; Graham, John M Jr; Roberts, Amy; Chorin, Odelia; Evrony, Gilad D; Kraatari-Tiri, Minna; Dudding-Byth, Tracy; Richardson, Anamaria; Hunt, David; Hamilton, Laura; Dyack, Sarah; Mendelsohn, Bryce A; Rodríguez, Nicolás; Sánchez-Martínez, Rosario; Tenorio-Castaño, Jair; Nevado, Julián; Lapunzina, Pablo; Tirado, Pilar; Carminho Amaro Rodrigues, Maria-Teresa; Quteineh, Lina; Innes, A Micheil; Kline, Antonie D; Au, P Y Billie; Weksberg, Rosanna

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals

RPE65 变异 p.(E519K) 导致 83 名受影响个体出现一种新的显性遗传成人发病型黄斑病变

Van Vooren, Eline; Van Den Broeck, Filip; Mahieu, Quinten; Geens, Eline; Van Heetvelde, Mattias; De Bruyne, Marieke; Van de Sompele, Stijn; Uppal, Sheetal; Poliakov, Eugenia; Dhaenens, Claire-Marie; Gregory-Evans, Cheryl Y; Hoefsloot, Lies; Gonzalez, Adriana Iglesias; Kohl, Susanne; Zuleger, Theresia; Demaret, Tanguy; Tuupanen, Sari; Ruys, Joke; Van Os, Luc; Platteau, Elise; Jacob, Julie; Vermeer, Sascha; Postelmans, Laurence; Dahan, Karin; Maystadt, Isabelle; Rasquin, Florence; Thiadens, Alberta A H J; Stephenson, Kirk A J; Sheri, Narin; Smirnov, Vasily; MacDonald, Ian M; Gregory-Evans, Kevin; Redmond, T Michael; De Zaeytijd, Julie; Leroy, Bart P; Bauwens, Miriam; De Baere, Elfride

CEBPA-associated familial acute myeloid leukemia mimicking Werner syndrome: a case report

CEBPA相关家族性急性髓系白血病酷似沃纳综合征:病例报告

Demaret, Tanguy; Feret, Damien; Lambert, Barbara; Pranger, Delphine; Dargent, Jean-Louis; Martin Martinez, Maria Dolores; Renda, Antonio; Maystadt, Isabelle

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management

CDK13相关疾病:27例病例系列研究的新见解及临床管理建议

Contrò, Gianluca; Baroni, Maria Chiara; Caraffi, Stefano Giuseppe; Napoli, Manuela; Artuso, Rosangela; Giliberti, Annarita; Bargiacchi, Sara; Mancano, Giorgia; Traficante, Giovanna; Mucciolo, Mafalda; Radio, Francesca Clementina; Cordeddu, Viviana; Mancini, Cecilia; Bottillo, Irene; Pirro, Federica Anna; Bonati, Maria Teresa; Becker, Cord-Christian; Carli, Diana; Mussa, Alessandro; Gonzalez, Maria Isis Atallah; Ruiz-Arana, Inge Lore; Kumps, Camille; Maystadt, Isabelle; Moortgat, Stephanie; Peker, Alp; Piccione, Maria; Grammatico, Paola; Rostomashvili, Nino; Lévy, Jonathan; Scala, Marcello; Capra, Valeria; Torella, Annalaura; van Eyk, Clare; Isidor, Bertrand; Cogne, Benjamin; Srivastava, Siddharth; Quinlan, Aisling; Vaisfeld, Alessandro; Licchetta, Laura; Frattini, Daniele; Graziano, Claudio; Severi, Giulia; Bacchi, Isabelle; Soliani, Luca; Sherr, Elliott H; Argilli, Emanuela; Goel, Himanshu; De Luca, Chiara; Leonardi, Silvia; Brancati, Francesco; Faletra, Flavio; Mio, Catia; Braibanti, Silvia; Gargano, Giancarlo; Fusco, Carlo; Novelli, Antonio; Tartaglia, Marco; Garavelli, Livia

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.

RPE65 变异 p.(E519K) 导致 83 名受影响个体出现一种新的显性成人发病型黄斑病变

Vooren Eline Van, den Broeck Filip Van, Mahieu Quinten, Geens Eline, Heetvelde Mattias Van, De Bruyne Marieke, de Sompele Stijn Van, Uppal Sheetal, Poliakov Eugenia, Dhaenens Claire-Marie, Gregory-Evans Cheryl Y, Hoefsloot Lies, Gonzalez Adriana Iglesias, Kohl Susanne, Zuleger Theresia, Demaret Tanguy, Tuupanen Sari, Ruys Joke, Os Luc Van, Platteau Elise, Jacob Julie, Vermeer Sascha, Postelmans Laurence, Dahan Karin, Maystadt Isabelle, Rasquin Florence, Thiadens Alberta A H J, Stephenson Kirk A J, Sheri Narin, Smirnov Vasily, MacDonald Ian M, Gregory-Evans Kevin, Redmond T Michael, De Zaeytijd Julie, Leroy Bart P, Bauwens Miriam, De Baere Elfride

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

对 EHMT1 变异体的全面分析拓宽了 Kleefstra 综合征的基因型-表型关联和分子机制。

Rots, Dmitrijs; Bouman, Arianne; Yamada, Ayumi; Levy, Michael; Dingemans, Alexander J M; de Vries, Bert B A; Ruiterkamp-Versteeg, Martina; de Leeuw, Nicole; Ockeloen, Charlotte W; Pfundt, Rolph; de Boer, Elke; Kummeling, Joost; van Bon, Bregje; van Bokhoven, Hans; Kasri, Nael Nadif; Venselaar, Hanka; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Kuechler, Alma; Elffers, Bart; van Beeck Calkoen, Rixje; Hofman, Susanna; Smith, Audrey; Valenzuela, Maria Irene; Srivastava, Siddharth; Frazier, Zoe; Maystadt, Isabelle; Piscopo, Carmelo; Merla, Giuseppe; Balasubramanian, Meena; Santen, Gijs W E; Metcalfe, Kay; Park, Soo-Mi; Pasquier, Laurent; Banka, Siddharth; Donnai, Dian; Weisberg, Daniel; Strobl-Wildemann, Gertrud; Wagemans, Annemieke; Vreeburg, Maaike; Baralle, Diana; Foulds, Nicola; Scurr, Ingrid; Brunetti-Pierri, Nicola; van Hagen, Johanna M; Bijlsma, Emilia K; Hakonen, Anna H; Courage, Carolina; Genevieve, David; Pinson, Lucile; Forzano, Francesca; Deshpande, Charu; Kluskens, Maria L; Welling, Lindsey; Plomp, Astrid S; Vanhoutte, Els K; Kalsner, Louisa; Hol, Janna A; Putoux, Audrey; Lazier, Johanna; Vasudevan, Pradeep; Ames, Elizabeth; O'Shea, Jessica; Lederer, Damien; Fleischer, Julie; O'Connor, Mary; Pauly, Melissa; Vasileiou, Georgia; Reis, André; Kiraly-Borri, Catherine; Bouman, Arjan; Barnett, Chris; Nezarati, Marjan; Borch, Lauren; Beunders, Gea; Özcan, Kübra; Miot, Stéphanie; Volker-Touw, Catharina M L; van Gassen, Koen L I; Cappuccio, Gerarda; Janssens, Katrien; Mor, Nofar; Shomer, Inna; Dominissini, Dan; Tedder, Matthew L; Muir, Alison M; Sadikovic, Bekim; Brunner, Han G; Vissers, Lisenka E L M; Shinkai, Yoichi; Kleefstra, Tjitske

Prescribing sustainability: should UN sustainable development goals be part of the medical, pharmacy, and biomedical education?

可持续发展理念的制定:联合国可持续发展目标是否应该纳入医学、药学和生物医学教育?

Wieërs, Grégoire; Absil, Simon; Maystadt, Isabelle; Nicaise, Charles; Modrie, Pauline; Sibille, François-Xavier; Melly, Ludovic; Dogné, Jean-Michel

The impacts of climate change on violent conflict risk: a review of causal pathways

气候变化对暴力冲突风险的影响:因果路径综述

Xie, Xiaolan; Hao, Mengmeng; Ding, Fangyu; Scheffran, Jürgen; Ide, Tobias; Maystadt, Jean-François; Qian, Yushu; Wang, Qian; Chen, Shuai; Wu, Jiajie; Sun, Kai; Ma, Tian; Jiang, Dong

ARID1B-related disorder in 87 adults: Natural history and self-sustainability

87 名成年人的 ARID1B 相关疾病:自然史和自我维持

van der Sluijs, P J; Gösgens, M; Dingemans, A J M; Striano, P; Riva, A; Mignot, C; Faudet, A; Vasileiou, G; Walther, M; Schrier Vergano, S A; Alders, M; Alkuraya, F S; Alorainy, I; Alsaif, H S; Anderlid, B; Bache, I; van Beek, I; Blanluet, M; van Bon, B W; Brunet, T; Brunner, H; Carriero, M L; Charles, P; Chatron, N; Coccia, E; Dubourg, C; Earl, R K; Eichler, E E; Faivre, L; Foulds, N; Graziano, C; Guerrot, A M; Hashem, M O; Heide, S; Heron, D; Hickey, S E; Hopman, S M J; Kattentidt-Mouravieva, A; Kerkhof, J; Klein Wassink-Ruiter, J S; Kurtz-Nelson, E C; Kušíková, K; Kvarnung, M; Lecoquierre, F; Leszinski, G S; Loberti, L; Magoulas, P L; Mari, F; Maystadt, I; Merla, G; Milunsky, J M; Moortgat, S; Nicolas, G; Leary, M O '; Odent, S; Ozmore, J R; Parbhoo, K; Pfundt, R; Piccione, M; Pinto, A M; Popp, B; Putoux, A; Rehm, H L; Reis, A; Renieri, A; Rosenfeld, J A; Rossi, M; Salzano, E; Saugier-Veber, P; Seri, M; Severi, G; Sonmez, F M; Strobl-Wildemann, G; Stuurman, K E; Uctepe, E; Van Esch, H; Vitetta, G; de Vries, B B A; Wahl, D; Wang, T; Zacher, P; Heitink, K R; Ropers, F G; Steenbeek, D; Rybak, T; Santen, G W E