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

Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy

对与伴有或不伴有癫痫的神经发育障碍相关的HCN1变异体进行全面分类

Castelli, Roberta; Marini, Carla; Porro, Alessandro; Castellini, Anna; Fontana, Greta; Saponaro, Andrea; Cavalleri, Gianpiero; Rizzi, Susanna; Fusco, Carlo; Parida, Amitav; Caswell, Richard; Sherlaw, Charlotte; Pruna, Dario; Reid, Chris; Bleakley, Lauren E; Howell, Katherine B; Sheffer, Ingrid; Cuddapah, Vishnu Anad; Zeidler, Shimriet; Pavlidis, Elena; Pal, Deb; Szczałuba, Krzysztof; Mirzaa, Ghayda; Couque, Nathalie; Capri, Yline; Faivre, Laurence; Mau-Them, Frederic Tran; Sirchia, Fabio; Korff, Christian M; DiFrancesco, Dario; Thiel, Gerhard; Depienne, Christel; Santoro, Bina; Moroni, Anna

Systemically inducing trained immunity overcomes solid tumors' immunosuppressive microenvironment

系统性诱导训练免疫可以克服实体瘤的免疫抑制微环境

Priem, Bram; Willemsen, Lisa; Anbergen, Tom; van Elsas, Yuri; Deckers, Jeroen; Schrijver, David P; Hofstraat, Stijn R J; Messing, Iris V; Munitz, Jazz; Honing, Dionne; Prévot, Geoffrey; Toner, Yohana C; Morla, Judit; Wang, William; Ranzenigo, Anna; Sirchia, Isabella; Post, Tomas; Duivenvoorden, Raphaël; Kluza, Ewelina; Cremers, Glenn A O; Kreijtz, Joost H C M; Pérez-Medina, Carlos; van Leent, Mandy M T; Teunissen, Abraham J P; van der Meel, Roy; Zhou, Yi; Glass, Chris; Ochando, Jordi; Joosten, Leo A B; Fayad, Zahi A; Netea-Maier, Romana T; Netea, Mihai G; de Winther, Menno P J; Beldman, Thijs J; Griffioen, Arjan W; Mulder, Willem J 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

Subtype distribution, clinical presentation, and molecular spectrum of neurofibromatosis type 1-associated breast cancer

1型神经纤维瘤病相关乳腺癌的亚型分布、临床表现和分子谱

Di Giosaffatte, Niccolò; Daniele, Paola; Petrizzelli, Francesco; Iacovino, Chiara; Canciani, Chiara; Garau, Maria Luisa; Santoro, Claudia; Trevisan, Valentina; Panfili, Arianna; Cavone, Stefania; Guida, Valentina; D'Asdia, Maria Cecilia; Bernardini, Laura; Majore, Silvia; Ferraris, Alessandro; Valiante, Michele; Gensini, Francesca; Radio, Francesca Clementina; Tortora, Giada; Cassina, Matteo; Miele, Giuseppina; Priolo, Manuela; Sirchia, Fabio; Piccinno, Ludovica; Flex, Elisabetta; Zampino, Giuseppe; Genuardi, Maurizio; Nigro, Vincenzo; Salviati, Leonardo; Papi, Laura; Grammatico, Paola; Leoni, Chiara; Piluso, Giulio; Giustini, Sandra; Mazza, Tommaso; Upadhyaya, Meena; Tartaglia, Marco; Trevisson, Eva; De Luca, Alessandro

Distinguishing Genetic Alterations Versus (Epi)Mutations in Silver-Russell Syndrome and Focus on the IGF1R Gene

区分Silver-Russell综合征中的基因改变与(表观)突变,并重点关注IGF1R基因

Vimercati, Alessandro; Tannorella, Pierpaola; Guzzetti, Sara; Calzari, Luciano; Gentilini, Davide; Manfredini, Emanuela; Gori, Giulia; Gaudino, Rossella; Antona, Vincenzo; Piccione, Maria; Daolio, Cecilia; Auricchio, Renata; Sirchia, Fabio; Minelli, Antonella; Rossi, Elena; Bellini, Melissa; Biasucci, Giacomo; Raucci, Annalisa Russo; Pozzobon, Gabriella; Patti, Giuseppa; Napoli, Flavia; Larizza, Lidia; Maghnie, Mohamad; Russo, Silvia

Pathogenic cryptic variants detectable through exome data reanalysis significantly increase the diagnostic yield in Joubert syndrome

通过外显子组数据重新分析检测到的致病性隐匿变异显著提高了Joubert综合征的诊断率。

D'Abrusco, Fulvio; Serpieri, Valentina; Taccagni, Cecilia Maria; Garau, Jessica; Cattaneo, Luca; Boggioni, Monica; Gana, Simone; Battini, Roberta; Bertini, Enrico; Zanni, Ginevra; Boltshauser, Eugen; Borgatti, Renato; Romaniello, Romina; Signorini, Sabrina; Leuzzi, Vincenzo; Caputi, Caterina; Manti, Filippo; D'Arrigo, Stefano; De Laurentiis, Arianna; Graziano, Claudio; Lemke, Johannes R; Morelli, Federica; Petković Ramadža, Danijela; Sirchia, Fabio; Giorgio, Elisa; Valente, Enza Maria

Expanding the mutational spectrum of ReNU syndrome: insights into 5' Stem-loop variants

拓展ReNU综合征的突变谱:对5'茎环变异的深入了解

Bruselles, Alessandro; Mancini, Cecilia; Chiriatti, Luigi; Carvetta, Mattia; Baroni, Maria Chiara; Cappelletti, Camilla; Caraffi, Stefano Giuseppe; Celario, Massimiliano; Ciolfi, Andrea; Cordeddu, Viviana; De Falco, Alessandro; Ferilli, Marco; Garavelli, Livia; Leoni, Chiara; Meossi, Camilla; Niceta, Marcello; Onesimo, Roberta; Peluso, Francesca; Politano, Davide; Priolo, Manuela; Radio, Francesca Clementina; Santorelli, Filippo; Signorini, Sabrina; Sirchia, Fabio; Valente, Enza Maria; Zampino, Giuseppe; Tartaglia, Marco

Multiple molecular diagnoses identified through genome sequencing in individuals with suspected rare disease

通过基因组测序在疑似罕见病患者中鉴定出多种分子诊断

Malhotra, Alka; Thorpe, Erin; Coffey, Alison J; Rajkumar, Revathi; Adjeman, Josephine; Naa Adjeley Adjetey, Naomi Dianne; Aglobitse, Sharron; Allotey, Felix; Arsov, Todor; Ashong, Joyce; Badoe, Ebenezer Vincent; Basel, Donald; Brew, Yvonne; Brown, Chester; Bosfield, Kerri; Casas, Kari; Cornejo-Olivas, Mario; Davis-Keppen, Laura; Freed, Abbey; Gibson, Kate; Jayakar, Parul; Jones, Marilyn C; Kawome, Martina; Lumaka, Aimé; Maier, Ursula; Makay, Prince; Manassero, Gioconda; Marbell-Wilson, Marilyn; Marcuccilli, Charles; Masser-Frye, Diane; McCarrier, Julie; Mills, Hannah-Sharon; Montoya, Jeny Balazar; Mubungu, Gerrye; Ngole, Mamy; Perez, Jorge; Pivnick, Eniko; Duenas-Roque, Milagros M; Pena Salguero, Hildegard; Serize, Arturo; Shinawi, Marwan; Sirchia, Fabio; Soler-Alfonso, Claudia; Taylor, Alan; Thompson, Lauren; Vance, Gail; Vanderver, Adeline; Vaux, Keith; Velasco, Danita; Wiafe, Samuel; Taft, Ryan J; Perry, Denise L; Kesari, Akanchha

Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency

扩展与DPH5相关二磷酰胺缺乏症相关的表型谱

Politano, Davide; Mancini, Cecilia; Celario, Massimiliano; Radio, Francesca Clementina; D'Abrusco, Fulvio; Garau, Jessica; Kalantari, Silvia; Visani, Gaia; Carbonera, Simone; Gana, Simone; Ferilli, Marco; Chiriatti, Luigi; Cappelletti, Camilla; Ellena, Katia; Prodi, Elena; Borgatti, Renato; Valente, Enza Maria; Orcesi, Simona; Tartaglia, Marco; Sirchia, Fabio

Bridging Genotype to Phenotype in KMT5B-Related Syndrome: Evidence from RNA-Seq, (18)FDG-PET, Clinical Deep Phenotyping in Two New Cases, and a Literature Review

KMT5B相关综合征的基因型与表型关联:来自RNA测序、(18)FDG-PET、两例新病例的临床深度表型分析及文献综述的证据

Politano, Davide; Borgatti, Renato; Borgonovi, Giulia; Cistaro, Angelina; Danesino, Cesare; Fania, Piercarlo; Garghetti, Gaia; Guala, Andrea; Orlando, Isabella; Schiera, Irene Giovanna; Scotti, Claudia; Sirchia, Fabio; Romaniello, Romina; Visani, Gaia; Vurchio, Denise; Mellone, Simona; Giordano, Mara