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

Diagnostic sequencing identifies high-risk markers and mechanisms of resistance to guide immunotherapy selection

诊断测序可识别高风险标志物和耐药机制,从而指导免疫疗法的选择。

Sudha, Parvathi; Pham, Phillip; Niu, Wen; Liu, Enze; Wang, Lin; Truong, Gillian; Ligocki, Cameron; Al-Azzawi, Ramzi; Surapenini, Malini; Bray, Steven M; Vetrini, Francesco; Czader, Magdalena; Tayeh, Marwan K; Lee, Kelvin; Abonour, Rafat; Suvannasankha, Attaya; Walker, Brian A

De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome

DDX39B基因的新生突变和遗传突变会导致一种新的神经发育综合征。

Booth, Kevin T A; Jangam, Sharayu V; Chui, Martin M C; Treat, Kayla; Graziani, Lorenzo; Soldano, Alessia; Ruan, Yao; Wan-Hei Hui, Jeffrey; White, Kerry; Christensen, Celanie K; Lynnes, Ty; Yamamoto, Shinya; Kanca, Oguz; Tsang, Mandy H Y; Lynch, Sally A; Mullegama, Sureni V; Baptista, Julia; Iancu, Daniela; Joss, Shelagh K; Wong, Sandra Y Y; Mak, Christopher C Y; Kwong, Anna K Y; Bellen, Hugo J; Conboy, Erin; Sanges, Remo; Leung, Anskar Yu-Hung; Wangler, Michael F; Chung, Brian H Y; Vetrini, Francesco

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.

基因组学和蛋白质组学相结合,揭示了肌张力障碍中难以捉摸的变异和巨大的病因异质性

Zech Michael, Dzinovic Ivana, Skorvanek Matej, Harrer Philip, Necpal Jan, Kopajtich Robert, Kittke Volker, Tilch Erik, Zhao Chen, Tsoma Eugenia, Sorrentino Ugo, Indelicato Elisabetta, Stehr Antonia, Saparov Alice, Abela Lucia, Adamovicova Miriam, Afenjar Alexandra, Assmann Birgit, Baloghova Janette, Baumann Matthias, Berutti Riccardo, Brezna Zuzana, Brugger Melanie, Brunet Theresa, Cogne Benjamin, Colangelo Isabel, Conboy Erin, Distelmaier Felix, Eckenweiler Matthias, Garavaglia Barbara, Geerlof Arie, Graf Elisabeth, Hackenberg Annette, Harvanova Denisa, Haslinger Bernhard, Havrankova Petra, Hoffmann Georg F, Janzarik Wibke G, Keren Boris, Kolnikova Miriam, Kolokotronis Konstantinos, Kosutzka Zuzana, Koy Anne, Krenn Martin, Krygier Magdalena, Kusikova Katarina, Maier Oliver, Meitinger Thomas, Mertes Christian, Milenkovic Ivan, Monfrini Edoardo, Santos Dias Mourao Andre, Musacchio Thomas, Nizon Mathilde, Ostrozovicova Miriam, Pavlov Martin, Prihodova Iva, Rektorova Irena, Romito Luigi M, Rybanska Barbora, Sadr-Nabavi Ariane, Schwenger Susanne, Shoeibi Ali, Sitzberger Alexandra, Smirnov Dmitrii, Svantnerova Jana, Tautanova Raushana, Toelle Sandra P, Ulmanova Olga, Vetrini Francesco, Vill Katharina, Wagner Matias, Weise David, Zorzi Giovanna, Di Fonzo Alessio, Oexle Konrad, Berweck Steffen, Mall Volker, Boesch Sylvia, Schormair Barbara, Prokisch Holger, Jech Robert, Winkelmann Juliane

Research-Based Whole Genome Sequencing Identifies Biallelic Loss of Function Variants in DOCK3 Gene Causing DOCK3-Related Disorder: The End of a Diagnostic Journey for This Family

基于研究的全基因组测序鉴定出DOCK3基因中导致DOCK3相关疾病的双等位基因功能缺失变异:该家族的诊断之旅终于结束

Liaqat, Khurram; Treat, Kayla; Mantcheva, Lili; McLaughlin, Aaron; Breman, Amy; McPheron, Molly; Conboy, Erin; Vetrini, Francesco

Pathogenic Deep Intronic Variant in CNGB3 Identified From Whole-Genome Sequencing in an Unsolved Case of Patient Affected With Achromatopsia

在一例未确诊的全色盲患者中,通过全基因组测序鉴定出CNGB3基因的致病性深内含子变异。

Gregory, Matthew R; Liaqat, Khurram; Treat, Kayla; Haider, Kathryn M; Vetrini, Francesco; Conboy, Erin

Dominant negative ATP5F1A variants disrupt oxidative phosphorylation causing neurological disorders.

显性负性 ATP5F1A 变体破坏氧化磷酸化,导致神经系统疾病

Fielder Sara M, Friederich Marisa W, Hock Daniella H, Zhang Jessie R, Valin Liana M, Rosenfeld Jill A, Booth Kevin T A, Brown Natasha J, Rius Rocio, Sharma Tanavi, Semcesen Liana N, Worley Kim C, Burrage Lindsay C, Treat Kayla, Samson Tara, Govert Sarah, DaCunha Sara, Yuan Weimin, Chen Jian, Lesinski Jacob, Hoang Hieu, Morrison Stephanie A, Ladha Farah A, Van Hove Roxanne A, Michel Cole R, Reisdorph Richard, Tycksen Eric, Baldridge Dustin, Silverman Gary A, Soler-Alfonso Claudia, Conboy Erin, Vetrini Francesco, Emrick Lisa, Craigen William J, Sykes Stephen M, Stroud David A, Van Hove Johan L K, Schedl Tim, Pak Stephen C

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

系统评价基因组测序在自闭症谱系障碍和胎儿结构异常诊断中的应用

Lowther, Chelsea; Valkanas, Elise; Giordano, Jessica L; Wang, Harold Z; Currall, Benjamin B; O'Keefe, Kathryn; Pierce-Hoffman, Emma; Kurtas, Nehir E; Whelan, Christopher W; Hao, Stephanie P; Weisburd, Ben; Jalili, Vahid; Fu, Jack; Wong, Isaac; Collins, Ryan L; Zhao, Xuefang; Austin-Tse, Christina A; Evangelista, Emily; Lemire, Gabrielle; Aggarwal, Vimla S; Lucente, Diane; Gauthier, Laura D; Tolonen, Charlotte; Sahakian, Nareh; Stevens, Christine; An, Joon-Yong; Dong, Shan; Norton, Mary E; MacKenzie, Tippi C; Devlin, Bernie; Gilmore, Kelly; Powell, Bradford C; Brandt, Alicia; Vetrini, Francesco; DiVito, Michelle; Sanders, Stephan J; MacArthur, Daniel G; Hodge, Jennelle C; O'Donnell-Luria, Anne; Rehm, Heidi L; Vora, Neeta L; Levy, Brynn; Brand, Harrison; Wapner, Ronald J; Talkowski, Michael E

Macrocephaly and developmental delay caused by missense variants in RAB5C

RAB5C基因错义变异导致巨头畸形和发育迟缓

Koop, Klaas; Yuan, Weimin; Tessadori, Federico; Rodriguez-Polanco, Wilmer R; Grubbs, Jeremy; Zhang, Bo; Osmond, Matt; Graham, Gail; Sawyer, Sarah; Conboy, Erin; Vetrini, Francesco; Treat, Kayla; Płoski, Rafal; Pienkowski, Victor Murcia; Kłosowska, Anna; Fieg, Elizabeth; Krier, Joel; Mallebranche, Coralie; Alban, Ziegler; Aldinger, Kimberly A; Ritter, Deborah; Macnamara, Ellen; Sullivan, Bonnie; Herriges, John; Alaimo, Joseph T; Helbig, Catherine; Ellis, Colin A; van Eyk, Clare; Gecz, Jozef; Farrugia, Daniel; Osei-Owusu, Ikeoluwa; Adès, Lesley; van den Boogaard, Marie-Jose; Fuchs, Sabine; Bakker, Jeroen; Duran, Karen; Dawson, Zachary D; Lindsey, Anika; Huang, Huiyan; Baldridge, Dustin; Silverman, Gary A; Grant, Barth D; Raizen, David; van Haaften, Gijs; Pak, Stephen C; Rehmann, Holger; Schedl, Tim; van Hasselt, Peter

Reanalysis of a novel variant in the IGF1R gene in a family with variable prenatal and postnatal growth retardation and dysmorphic features: benefits and feasibility of IUSM-URDC (Undiagnosed Rare Disease Clinic) program

对一个具有不同程度产前和产后生长迟缓及畸形特征的家族中IGF1R基因新变异的重新分析:IUSM-URDC(未确诊罕见病诊所)项目的益处和可行性

Jacobs, Annalise; Burns, Catherine; Patel, Purva; Treat, Kayla; Helm, Benjamin M; Conboy, Erin; Vetrini, Francesco

Exome sequencing identified a novel HIST1H1E heterozygous protein-truncating variant in a 6-month-old male patient with Rahman syndrome: A case report

外显子组测序在一名患有拉赫曼综合征的6个月大男婴中发现了一种新的HIST1H1E杂合蛋白截短变异:病例报告

Indugula, Subba Rao; Ayala, Sofia Saenz; Vetrini, Francesco; Belonis, Alyce; Zhang, Wenying