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

Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases

Telethon 未确诊疾病项目:以结构化方法解决罕见的儿童期发病遗传疾病

Torella, Annalaura; Morleo, Manuela; Spampanato, Carmine; Castello, Raffaele; Zanobio, Mariateresa; Piluso, Giulio; Di Letto, Pasquale; Onore, Maria Elena; Rahman, Sarah Iffat; Musacchia, Francesco; Pinelli, Michele; Vitiello, Giuseppina; De Riso, Giulia; Selicorni, Angelo; Mariani, Milena; Daolio, Cecilia; Capra, Valeria; Scala, Marcello; Nardecchia, Francesca; Galosi, Serena; Mastrangelo, Mario; Manti, Filippo; Milani, Donatella; Romano, Corrado; Greco, Donatella; Ciaccio, Claudia; D'Arrigo, Stefano; De Laurentiis, Arianna; Coppola, Antonietta; Zollino, Marcella; Pasquetti, Domizia; L'Erario, Federica Francesca; Tummolo, Albina; Santoro, Claudia; Garavelli, Livia; Marini, Carla; Bigoni, Stefania; Tirozzi, Alfonsina; Cetrangolo, Viviana; Parenti, Giancarlo; Di Bernardo, Diego; Peron, Angela; Maitz, Silvia; Accogli, Andrea; Cappuccio, Gerarda; Banfi, Sandro; Casari, Giorgio; Ballabio, Andrea; Brunetti-Pierri, Nicola; Nigro, Vincenzo

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

BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations

BCL11A 智力发育障碍:临床谱系及基因型-表型相关性定义

Peron, Angela; D'Arco, Felice; Aldinger, Kimberly A; Smith-Hicks, Constance; Zweier, Christiane; Gradek, Gyri A; Bradbury, Kimberley; Accogli, Andrea; Andersen, Erica F; Au, Ping Yee Billie; Battini, Roberta; Beleford, Daniah; Bird, Lynne M; Bouman, Arjan; Bruel, Ange-Line; Busk, Øyvind Løvold; Campeau, Philippe M; Capra, Valeria; Carlston, Colleen; Carmichael, Jenny; Chassevent, Anna; Clayton-Smith, Jill; Bamshad, Michael J; Earl, Dawn L; Faivre, Laurence; Philippe, Christophe; Ferreira, Patrick; Graul-Neumann, Luitgard; Green, Mary J; Haffner, Darrah; Haldipur, Parthiv; Hanna, Suhair; Houge, Gunnar; Jones, Wendy D; Kraus, Cornelia; Kristiansen, Birgit Elisabeth; Lespinasse, James; Low, Karen J; Lynch, Sally Ann; Maia, Sofia; Mao, Rong; Kalinauskiene, Ruta; Melver, Catherine; McDonald, Kimberly; Montgomery, Tara; Morleo, Manuela; Motter, Constance; Openshaw, Amanda S; Palumbos, Janice Cox; Parikh, Aditi Shah; Perilla-Young, Yezmin; Powell, Cynthia M; Person, Richard; Desai, Megha; Piard, Juliette; Pfundt, Rolph; Scala, Marcello; Serey-Gaut, Margaux; Shears, Deborah; Slavotinek, Anne; Suri, Mohnish; Turner, Claire; Tvrdik, Tatiana; Weiss, Karin; Wentzensen, Ingrid M; Zollino, Marcella; Hsieh, Tzung-Chien; de Vries, Bert B A; Guillemot, Francois; Dobyns, William B; Viskochil, David; Dias, Cristina

The European Certificate in Medical Genetics and Genomics (ECMGG)

欧洲医学遗传学和基因组学证书(ECMGG)

Turnpenny, Peter D; Pölsler, Laura; Moog, Ute; Tobias, Edward S; Peron, Angela; Boonen, Susanne E; Lynch, Bonnie; Berg, Jonathan

Long-read genome sequencing resolves the breakpoints of a chromosome 8;22 balanced translocation in NF2-related schwannomatosis.

长读长基因组测序解析了 NF2 相关神经鞘瘤病中 8;22 号染色体平衡易位的断点。

Montini Marco, Bonacchi Lorenzo, Sidoti Diletta, Cuccoli Stefano, Pantaleo Marilena, Peron Angela, Scuffi Irene, DosSantos Marcos F, Nassini Romina, De Logu Francesco, Papi Laura

Marked hepatic fibrosis with progression towards cirrhosis in generalized arterial calcification of infancy: an unreported association observed in a case carryng a novel ENPP1 variant

婴儿期全身性动脉钙化伴有明显的肝纤维化并进展为肝硬化:一例携带新型ENPP1变异体的病例中观察到的未报道关联

Buccoliero, Anna Maria; Mancano, Giorgia; Cioni, Maria Luce; Panzuto, Caterina; Artuso, Rosangela; Palazzo, Viviana; Calabri, Giovanni Battista; Capponi, Guglielmo; Ponticelli, Abramo; Caporalini, Chiara; Bertini, Federico; D'Incerti, Ludovico; Severi, Elisa; Peron, Angela; Moroni, Marco

Causative Role of the SLC6A1 p.Asp451Gly Variant in a Patient with Combined Dystonia and Neurodevelopmental Disorder

SLC6A1 p.Asp451Gly 变异在一名同时患有肌张力障碍和神经发育障碍的患者中的致病作用

Romito, Luigi M; Colucci, Fabiana; Leta, Valentina; Panteghini, Celeste; Telese, Roberta; Tolva, Gianluca; Villa, Roberta; Elia, Antonio E; Eleopra, Roberto; Peron, Angela; Garavaglia, Barbara; Iascone, Maria

Correction to: A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity

更正:在一个患有坐骨-髋-足-髌骨综合征且病情严重程度不一的家族中发现了一种新的TBX4移码变异。

Moresco, Giada; Rondinone, Ornella; Mauri, Alessia; Gorgoglione, Rita; Graziani, Daniela Maria Grazia; Dziuback, Michal; Miozzo, Monica Rosa; Sirchia, Silvia Maria; Pietrogrande, Luca; Peron, Angela; Fontana, Laura

A novel frameshift TBX4 variant in a family with ischio-coxo-podo-patellar syndrome and variable severity

在一个患有坐骨-髋-足-髌骨综合征且病情严重程度不一的家族中发现了一种新的TBX4移码变异。

Moresco, Giada; Rondinone, Ornella; Mauri, Alessia; Gorgoglione, Rita; Graziani, Daniela Maria Grazia; Dziuback, Michal; Miozzo, Monica Rosa; Sirchia, Silvia Maria; Pietrogrande, Luca; Peron, Angela; Fontana, Laura

Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study

遗传性癫痫和早发性发育性癫痫性脑病:一项多中心研究

Cavirani, Benedetta; Spagnoli, Carlotta; Caraffi, Stefano Giuseppe; Cavalli, Anna; Cesaroni, Carlo Alberto; Cutillo, Gianni; De Giorgis, Valentina; Frattini, Daniele; Marchetti, Giulia Bruna; Masnada, Silvia; Peron, Angela; Rizzi, Susanna; Varesio, Costanza; Spaccini, Luigina; Vignoli, Aglaia; Canevini, Maria Paola; Veggiotti, Pierangelo; Garavelli, Livia; Fusco, Carlo