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

A novel spliceosomopathy caused by de novo SF3B3 variants.

一种由新生SF3B3变异引起的新型剪接体病。

Musante Luciana, Janos Pavel, Pianigiani Giulia, Cappelli Sara, Longo Alessandra, Alves Carolina, Schwaibold Eva Mc, Wagner Matias, Costain Gregory, Fridriksdottir Run, Stefansson Kari, Sulem Patrick, Lichtenbelt Klaske D, van Binsbergen Ellen, van Jaarsveld Richard H, Brusco Alfredo, Pavinato Lisa, Biamino Elisa, Spano Alessandra, Hildebrandt Clara C, Chan Yee-Ming, Groopman Emily, Berkenstadt Michal, Koboldt Daniel, Williamson Rachel, Brunner Han G, Vissers Lisenka Elm, Torring Pernille M, Hao Qin, Gelb Bruce D, Goldmuntz Elizabeth, Reed Kristen, Bedoukian Emma C, Vecchio Davide, Salzano Emanuela, Piccione Maria, Zanus Caterina, Mio Catia, Eichler Evan E, Wang Tianyun, Patterson Wesley G, Butler Kameryn M, Piotrowski Mattie, Mercier Sandra, Cogné Benjamin, Wentzensen Ingrid M, Buratti Emanuele, Magistrato Alessandra, Faletra Flavio

DNA Methylation Episignature as a Novel Diagnostic Tool for Diamond-Blackfan Anemia Syndrome

DNA甲基化表观遗传特征作为Diamond-Blackfan贫血综合征的新型诊断工具

Quarello, Paola; Karimi, Karim; Trajkova, Slavica; Garelli, Emanuela; Samadieh, Mehdi; Iovino, Emanuela; Pippucci, Tommaso; Papagni, Giovanni; Dalfonso, Sandra; Corrado, Lucia; Rizzo, Serena; Carando, Adriana; Kerkhof, Jennifer; Rzasa, Jessica; McConkey, Haley; Levy, Michael; Zecca, Marco; Fioredda, Francesca; Barone, Angelica; Cesaro, Simone; Gabelli, Maria; Torchio, Francesca; Zucchetti, Giulia; Cantarini, Maria Elena; Corti, Paola; Ramenghi, Ugo; Locatelli, Franco; Fagioli, Franca; Sadikovic, Bekim; Brusco, Alfredo

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions

非孤立性法洛四联症(TOF+):外显子组测序效率和表型扩展

Volpi, Julia; Zhao, Xiaonan; Owen, Nichole; Evans, Tia; Holder-Espinasse, Muriel; Lahiri, Nayana; Sherlock, Eleanor; Poke, Gemma; Breckpot, Jeroen; Devriendt, Koen; Cools, Bjorn; Brusco, Alfredo; Ferrero, Giovanni Battista; Grosso, Enrico; Vasudevan, Pradeep; Loddo, Sara; Novelli, Antonio; Digilio, Maria Cristina; Engwerda, Aafke; Hitzert, Marrit; Male, Alison; Bownass, Lucy; Newbury-Ecob, Ruth; Miedzybrodzka, Zosia; Armstrong, Ruth; Lynch, Sally Ann; Houge, Gunnar; Xiong, Shiyi; Lalani, Seema R; Rosenfeld, Jill A; Luna, Pamela N; Shaw, Chad A; Scott, Daryl A

DNA methylation episignature for Smith-Magenis and Potocki-Lupski syndromes: a mirror perspective

Smith-Magenis综合征和Potocki-Lupski综合征的DNA甲基化表观遗传特征:镜像视角

van der Laan, Liselot; Karimi, Karim; Rooney, Kathleen; Alders, Mariëlle; Brusco, Alfredo; Lasa-Aranzasti, Amaia; Brunetti-Pierri, Nicola; Cueto-Gonzalez, Anna M; DuPont, Barbara R; Cappuccio, Gerarda; Dubourg, Christele; Everman, David; Gatinois, Vincent; Ganne, Benjamin; Genevieve, David; Ferrero, Giovanni Battista; Kempers, Marlies; Levy, Michael A; Niceta, Marcello; Novelli, Antonio; Orlando, Valeria; Odent, Sylvie; Patterson, Wesley G; Polstra, Abeltje M; Roscioli, Tony; Ruiz-Pallares, Nathalie; Sabbagh, Quentin; Trajkova, Slavica; Tartaglia, Marco; Tedder, Matthew A; Toutain, Annick; Koehler, Udo; Valenzuela, Irena; van Hagen, Johanna M; van der Kevie-Kersemaekers, Anne-Marie; Henneman, Peter; Mannens, Marcel M A M; Sadikovic, Bekim; van Haelst, Mieke M

SETBP1 variants outside the degron disrupt DNA-binding, transcription and neuronal differentiation capacity to cause a heterogeneous neurodevelopmental disorder

SETBP1基因降解子以外的变异会破坏其DNA结合、转录和神经元分化能力,从而导致异质性神经发育障碍。

Wong, Maggie M K; Kampen, Rosalie A; Braden, Ruth O; Alagöz, Gökberk; Hildebrand, Michael S; Dingemans, Alexander J M; Corbally, Jean; den Hoed, Joery; Mendoza, Ezequiel; Claassen, Willemijn J J; Barnett, Christopher; Barnett, Meghan; Brusco, Alfredo; Carli, Diana; de Vries, Bert B A; Elmslie, Frances; Ferrero, Giovanni Battista; Jansen, Nadieh A; van de Laar, Ingrid M B H; Moroni, Alice; Mowat, David; Murray, Lucinda; Novara, Francesca; Peron, Angela; Scheffer, Ingrid E; Sirchia, Fabio; Turner, Samantha J; Vignoli, Aglaia; Vino, Arianna; Weber, Sacha; Chung, Wendy K; Gerard, Marion; López-González, Vanesa; Palmer, Elizabeth; Morgan, Angela T; van Bon, Bregje W; Fisher, Simon E

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.

SMARCA1 中的致病变异会导致 X 连锁神经发育障碍,该障碍受 NURF 复合物组成调节。

Mirzaa Ghayda M, Yan Keqin, Relator Raissa, Levesque Mathieu, Jayasinghe Pranisha, Timpano Sara, Yalcin Binnaz, Collins Stephan, Ziegler Alban, Pao Emily, Oyama Nora, Brischoux-Boucher Elise, Piard Juliette, Monaghan Kristin G, Guillen Sacoto Maria J, Dobyns William B, Park Kristen L, Fernández-Mayoralas Daniel Martin, Fernández-Jaén Alberto, Jayakar Parul, Palomares-Bralo María, Santos-Simarro Fernando, Brusco Alfredo, Antona Vincenzo, Giorgio Elisa, Kvarnung Malin, Isidor Bertrand, Conrad Solène, Cogné Benjamin, Deb Wallid, Stuurman Kyra E, Štěrbová Katalin, Smal Noor, Weckhuysen Sarah, Oegema Renske, Innes A Micheil, Koboldt Daniel C, Ben-Omran Tawfeg, Yeh Rebecca C, Kruer Michael C, Bakhtiari Somayeh, Papavasiliou Antigone, Moutton Sébastien, Nambot Sophie, Chanprasert Sirisak, Paolucci Sarah A, Miller Kait, Burton Barbara, Kim Katherine, O'Heir Emily, Bruwer Zandre, Donald Kirsten A, Kleefstra Tjitske, Goldstein Amy, Angle Brad, Bontempo Kelly, Miny Peter, Joset Pascal, Demurger Florence, Hobson Emma, Pang Lewis, Carpenter Lori, Li Dong, Bonneau Dominique, Sadikovic Bekim, Picketts David J

Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus

DDX53基因的遗传变异与Xp22.11位点相关的自闭症谱系障碍有关。

Scala, Marcello; Bradley, Clarrisa A; Howe, Jennifer L; Trost, Brett; Salazar, Nelson Bautista; Shum, Carole; Mendes, Marla; Reuter, Miriam S; Anagnostou, Evdokia; MacDonald, Jeffrey R; Ko, Sangyoon Y; Frankland, Paul W; Charlebois, Jessica; Elsabbagh, Mayada; Granger, Leslie; Anadiotis, George; Pullano, Verdiana; Brusco, Alfredo; Keller, Roberto; Parisotto, Sarah; Pedro, Helio F; Lusk, Laina; McDonnell, Pamela Pojomovsky; Helbig, Ingo; Mullegama, Sureni V; Douine, Emilie D; Corona, Rosario Ivetth; Russell, Bianca E; Nelson, Stanley F; Graziano, Claudio; Schwab, Maria; Simone, Laurie; Zara, Federico; Scherer, Stephen W

Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease

外显子组测序揭示了家族性晚发性阿尔茨海默病中GRIN2C基因的罕见致病变异

Rubino, Elisa; Italia, Maria; Giorgio, Elisa; Boschi, Silvia; Dimartino, Paola; Pippucci, Tommaso; Roveta, Fausto; Cambria, Clara Maria; Elia, Gabriella; Marcinnò, Andrea; Gallone, Salvatore; Rogaeva, Ekaterina; Antonucci, Flavia; Brusco, Alfredo; Gardoni, Fabrizio; Rainero, Innocenzo

A Systems Biology Approach for Prioritizing ASD Genes in Large or Noisy Datasets

利用系统生物学方法对大型或噪声数据集中的自闭症谱系障碍基因进行优先级排序

Remori, Veronica; Bondi, Heather; Airoldi, Manuel; Pavinato, Lisa; Borini, Giulia; Carli, Diana; Brusco, Alfredo; Fasano, Mauro

Systems-Level Integration of Multi-Omics Identifies Genetic Modifiers of TANGO2 Deficiency Disorder

多组学系统级整合鉴定TANGO2缺陷症的遗传修饰因子

Airoldi, Manuel; Bondi, Heather; Remori, Veronica; Carestiato, Silvia; Ferrero, Giovanni Battista; Brusco, Alfredo; Fasano, Mauro