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

Reversible Metabolic and Liver Disease in Complex III Deficiency: Novel Variants Expand the Reported UQCRC2-Associated Phenotype

复合物 III 缺陷引起的可逆性代谢和肝脏疾病:新变异扩展了已报道的 UQCRC2 相关表型

Preston, Graeme; Shammas, Ibrahim; Pinto E Vairo, Filippo; Ligezka, Anna; Aschoff, Carlos Alberto de Moura; Poswar, Fabiano; Schwartz, Ida Vanessa D; Kozicz, Tamas; Morava, Eva

Hide and Seek: Privacy-Preserving Artificial Intelligence with a Feasibility Study in Rare Disease Diagnosis

捉迷藏:保护隐私的人工智能在罕见病诊断中的可行性研究

Rajaganapathy, Sivaraman; St Sauver, Jennifer; Pinto E Vairo, Filippo; Iyer, Prasad G; Liu, Hongfang; Fan, Jungwei W

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

少突胶质细胞沉默元件是层粘蛋白B1结构变异致病作用的基础。

Nmezi, Bruce; Rodriguez Bey, Guillermo; Oranburg, Talia DeFrancesco; Dudnyk, Kseniia; Lardo, Santana M; Herdman, Nathan; Jacko, Anastasia; Rubio, Sandy; Loeza-Alcocer, Emanuel; Kofler, Julia; Kim, Dongkyeong; Rankin, Julia; Kivuva, Emma; Gutowski, Nicholas; Schon, Katherine; van den Ameele, Jelle; Chinnery, Patrick F; Sousa, Sérgio B; Palavra, Filipe; Toro, Camilo; Pinto E Vairo, Filippo; Saute, Jonas; Pan, Lisa; Alturkustani, Murad; Hammond, Robert; Gros-Louis, Francois; Gold, Michael S; Park, Yungki; Bernard, Geneviève; Raininko, Raili; Zhou, Jian; Hainer, Sarah J; Padiath, Quasar S

Novel RRAGD Variants in Autosomal Dominant Kidney Hypomagnesemia and Therapeutic Perspectives

常染色体显性遗传性肾脏低镁血症中的新型RRAGD变异及其治疗前景

Adella, Anastasia; Jouret, François; Madariaga, Leire; Leermakers, Pieter A; Arango, Pedro; Ariceta, Gema; Beck, Bodo B; Bjerre, Anna; Bockenhauer, Detlef; Coccia, Paula; Dhamija, Radhika; de Frutos, Fernando; Garcia-Castano, Alejandro; van Katwijk, Sara B; Lucas, Jesus; Möller, Thomas; Müller, Dominik; Pinto E Vairo, Filippo; Raki, Melinda; Rips, Jonathan; Schlingmann, Karl Peter; Venselaar, Hanka; Machado Bressan Wilke, Matheus Vernet; Nijenhuis, Tom; Hoenderop, Joost; de Baaij, Jeroen

Genotype-phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies

基因型-表型相关性及遗传性TRPC6足细胞病临床结局

McAnallen, Susan M; Elhassan, Elhussein A E; Stoneman, Sinead; Pinto E Vairo, Filippo; Hogan, Marie C; Hoefele, Julia; Clince, Michelle; Mekraksakit, Poemlarp; Titan, Silvia M; Jorge, Sofia; Calado, Joaquim; Decramer, Stéphane; Colliou, Eloïse; Tellier, Stéphanie; Francisco, Telma; Servais, Aude; Cornet, Joséphine; de Fallois, Jonathan; Dossier, Claire; Fenoglio, Roberta; Renieri, Alessandra; Pinto, Anna Maria; Daga, Sergio; Loberti, Lorenzo; Fila, Marc; Quintana, Luis F; Becherucci, Francesca; Godefroid, Nathalie; Dubrasquet, Astrid; Kálmán, Tory; Dolan, Niamh; Alawi, Bushra Al; Sweeney, Clodagh; Riordan, Michael; Stack, Maria; Awan, Atif; Hui, Ng Kar; McCarthy, Hugh J; Biros, Erik; Harris, Trudie; Kidd, Kendrah; Haeberle, Stefanie; Bleyer, Anthony J; Mallett, Andrew J; Sayer, John A; Schafer, Franz; Benson, Katherine A; McCann, Emma; Conlon, Peter J

Basic and translational research in rare diseases in low- and middle-income countries: challenges and solutions

低收入和中等收入国家罕见病基础研究和转化研究:挑战与解决方案

Rodrigues, Graziella; Poletto, Edina; E Vairo, Filippo Pinto; Baldo, Guilherme

IKZF1 and UBR4 gene variants drive autoimmunity and Th2 polarization in IgG4-related disease

IKZF1 和 UBR4 基因变异驱动 IgG4 相关疾病中的自身免疫和 Th2 极化

Qingxiang Liu ,Yanyan Zheng ,Ines Sturmlechner ,Abhinav Jain ,Maryam Own ,Qiankun Yang ,Huimin Zhang ,Filippo Pinto E Vairo ,Karen Cerosaletti ,Jane H Buckner ,Kenneth J Warrington ,Matthew J Koster ,Cornelia M Weyand ,Jörg J Goronzy

Correction: Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD)

更正:在三级医疗保健系统中实施罕见病基因组医学:梅奥诊所罕见病和未确诊疾病项目 (PRaUD)

Pinto E Vairo, Filippo; Kemppainen, Jennifer L; Vitek, Carolyn R Rohrer; Whalen, Denise A; Kolbert, Kayla J; Sikkink, Kaitlin J; Kroc, Sarah A; Kruisselbrink, Teresa; Shupe, Gabrielle F; Knudson, Alyssa K; Burke, Elizabeth M; Loftus, Elle C; Bandel, Lorelei A; Prochnow, Carri A; Mulvihill, Lindsay A; Thomas, Brittany; Gable, Dale M; Graddy, Courtney B; Garzon, Giovanna G Moreno; Ekpoh, Idara U; Porquera, Eva M Carmona; Fervenza, Fernando C; Hogan, Marie C; El Ters, Mireille; Warrington, Kenneth J; Davis, John M 3rd; Koster, Matthew J; Orandi, Amir B; Basiaga, Matthew L; Vella, Adrian; Kumar, Seema; Creo, Ana L; Lteif, Aida N; Pittock, Siobhan T; Tebben, Peter J; Abate, Ejigayehu G; Joshi, Avni Y; Ristagno, Elizabeth H; Patnaik, Mrinal S; Schimmenti, Lisa A; Dhamija, Radhika; Sabrowsky, Sonia M; Wierenga, Klaas J; Keddis, Mira T; Samadder, Niloy Jewel J; Presutti, Richard J; Robinson, Steven I; Stephens, Michael C; Roberts, Lewis R; Faubion, William A Jr; Driscoll, Sherilyn W; Wong-Kisiel, Lily C; Selcen, Duygu; Flanagan, Eoin P; Ramanan, Vijay K; Jackson, Lauren M; Mauermann, Michelle L; Ortega, Victor E; Anderson, Sarah A; Aoudia, Stacy L; Klee, Eric W; McAllister, Tammy M; Lazaridis, Konstantinos N

IL-17 signaling in primary sclerosing cholangitis patient-derived organoids

IL-17信号在原发性硬化性胆管炎患者来源的类器官中的作用

Garcia Moreno, Ana S; Guicciardi, Maria E; Wixom, Alexander Q; Jessen, Erik; Yang, Jingchun; Ilyas, Sumera I; Bianchi, Jackie K; Pinto E Vairo, Filippo; Lazaridis, Konstantinos N; Gores, Gregory J

Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders

综合征性神经发育障碍中染色质修饰基因MSL2的新型蛋白质截短变体

Lu, Xiaona; Ng, Kim; Pinto E Vairo, Filippo; Collins, James; Cohn, Ronald; Riley, Kacie; Agre, Katherine; Gavrilova, Ralitza; Klee, Eric W; Rosenfeld, Jill A; Jiang, Yong-Hui