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

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

Portable histone assay technology (PHAST) for the sample-to-answer detection of circulating histones in whole blood

用于全血中循环组蛋白样本到结果检测的便携式组蛋白检测技术(PHAST)

Warren, Rachel L; Rzasa, John R; Syeda, Zehra F; Pueschel, Alexander R; White, Ian M

TSG-6 Activated MSC-derived Extracellular Vesicles Present Altered micro-RNA Contents and Ameliorate the Inflammatory Phenotype of Macrophages in Vitro.

TSG-6 激活的 MSC 衍生的细胞外囊泡表现出改变的 microRNA 含量,并改善了体外巨噬细胞的炎症表型。

Martinez-Zalbidea Iker, Rzasa Alyssa, Puvanesarajah Varun, Hitzl Wolfgang, Wuertz-Kozak Karin

Chromatinopathies: clinically overlapping disorders, revealing novel variants and their DNA methylation signatures

染色质病:临床表现重叠的疾病,揭示新的变异及其DNA甲基化特征

Koparir, Asuman; Kerkhof, Jennifer; Rzasa, Jessica; Metzger, Eva; Bahena Carbajal, Paulina; Kolokotronis, Konstantinos; Koparir, Erkan; Jelting, Yvonne; Hofrichter, Michaela A H; Klepper, Jörg; König, Thomas; Runkel, Eva; Prastyo, Wahyu Eka; Deinlein, Jonas; Dragicevic Babic, Neda; Spiegler, Juliane; Stachelscheid, Nicole; Kunstmann, Erdmute; Haaf, Thomas; Sadikovic, Bekim; Klopocki, Eva

Phosphorylations of serines 21/9 in glycogen synthase kinase 3α/β are dispensable for V600EBRAF-driven premalignant tumour development in the mouse intestine.

糖原合成酶激酶 3α/β 中丝氨酸 21/9 的磷酸化对于 V600EBRAF 驱动的小鼠肠道癌前肿瘤发展并非必需。

Farahmand Pooyeh, Rzasa Paulina, Green Caleb, Hey Fiona, Giblett Susan, Jin Hong, West Kevin, Sylvius Nicolas B, Pritchard Catrin A, Rufini Alessandro

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder

临床、体外和体内证据表明,WAPL 是一种新的黏连蛋白病基因,也是 10q22.3q23.2 基因组疾病的表型驱动因素。

Boone, Philip M; Erdin, Serkan; Mohamed, Abucar; Haghshenas, Sadegheh; Faour, Kamli N W; Kao, Emeline; Fu, Jack; Auwerx, Chiara; Harripaul, Ricardo; Jana, Bimal; Springer, Danielle; Hallstrom, Grey; de Esch, Celine E F; Denhoff, Erica; Holmes, Lauren; Mohajeri, Kiana; Lemanski, John; Kerkhof, Jennifer; McConkey, Haley; Rzasa, Jessica; McCune, Madison J; Levy, Michael A; Grafstein, Julia; Larson, Matthew; Wright, Zsabre; Beauchamp, Roberta L; Lucente, Diane; Jamra, Rami Abou; Agrawal, Neena; Agrawal, Pankaj; Andersen, Erica F; Argilli, Emanuela; Araiza, Renee; Ballal, Sonia; Baxter, Megan F; Bergant, Gaber; Bertsche, Astrid; Bhavsar, Riya; Bortola, Debora R; Bothe, Viktoria; Brasch-Andersen, Charlotte; Braun, Dominique; Bruel, Ange-Line; Buchanan, Catherine; Burt, Nicholas D; Carvalho, Laura M L; Chiriatti, Luigi; Cogne, Benjamin; Collins, Ryan; Crunk, Amy; Currall, Benjamin; Delahaye-Duriez, Andree; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Devriendt, Koenraad; Domingo, Aloysius; Duncan, Laura; Faivre, Laurence; Famularo, Laura; Fulton, Anne; Genetti, Casie; Harel, Tamar; Havlovicova, Marketa; Higgs, Jenny; Houlier, Marine; Iascone, Maria; Immken, LaDonna; Isidor, Bertrand; Kaiser, Frank J; Karbone, Kaycee; Kenna, Margaret; Khan, Amjad; Kimmig, Lara Kristina; Kleefstra, Tjitske; Kraus, Eva-Maria; Krepischi, Ana C V; Krey, Ilona; Ladda, Roger; Lanoue, Louise; Le Caignec, Cedric; Lewis, Zoe K; Lima, Gloria; Lynch, Sally Ann; Macek, Milan Jr; Maier, Olivier; Maitz, Silvia; Male, Alison; Malikova, Marcela; McKay, Victoria; Moldovan, Oana; Monteil, Danielle; Oliveira, Mariana Moysés; Munasinghe, Jeeva; Nakamori, Sachiko; Neuser, Sonja; Nizon, Mathilde; Nuttle, Xander; O'Keefe, Kathryn; Orec, Laura; Parenti, Ilaria; Peterlin, Borut; Pfundt, Rolph; Pouncey, Jill; Radio, Francesca Clementina; Robert, Leema; Rodan, Lance; Rosenberg-Fogler, Hallel; Rosenfeld, Jill A; Safraou, Hana; Salani, Monica; Schliesske, Sophia; Seaby, Eleanor G; Sell, Susan; Eliot Shearer, A; Sherr, Elliott; Shillington, Amelle; Siebold, Dorothea; Sinnema, Margje; Smith, Laura; Stegmann, Alexander P A; Stevens, Cathy; Stevens, Servi; Surette, Eric; Tartaglia, Marco; Taylor, Jenny C; Thompson, Michelle L; Tørring, Pernille M; Mau Them, Frederic Tran; Tsoulaki, Olga; Umair, Muhammad; Vanhoutte, Els; Vincent, Marie; Vitobello, Antonio; von Wintzingerode, Lydia; Watt, Amy; Wayhelova, Marketa; Wentzensen, Ingrid M; Wilson, William; Wojcik, Monica H; Yuan, Bo; Zampino, Giuseppe; Srivastava, Siddharth; Westphal, Dominik S; Riedhammer, Korbinian M; Joyce, Eric; Yadav, Rachita; Gusella, James; Tai, Derek J C; Sadikovic, Bekim; Pfeifer, Karl E; Talkowski, Michael E

Congenital Hyperinsulinism and Novel KDM6A Duplications -Resolving Pathogenicity With Genome and Epigenetic Analyses

先天性高胰岛素血症和新型KDM6A重复——利用基因组和表观遗传分析解析其致病性

Männistö, Jonna M E; Hopkins, Jasmin J; Hewat, Thomas I; Nasser, Fatima; Burrage, Joseph; Dastamani, Antonia; Mirante, Alice; Murphy, Nuala; Rzasa, Jessica; Kerkhof, Jennifer; Relator, Raissa; Johnson, Matthew B; Laver, Thomas W; Weymouth, Luke; Houghton, Jayne A L; Wakeling, Matthew N; Sadikovic, Bekim; Dempster, Emma L; Flanagan, Sarah E

Skipping of Exon 20 in EP300: A Novel Variant Linked to Rubinstein-Taybi Syndrome With Atypical and Severe Clinical Manifestations

EP300基因第20外显子跳跃:一种与鲁宾斯坦-泰比综合征相关的新型变异,具有非典型和严重的临床表现

Pavinato, Lisa; Carestiato, Silvia; Trajkova, Slavica; Sorasio, Lorena; Mantovani, Giovanna; De Sanctis, Luisa; Kerkhof, Jennifer; McConkey, Haley; Rzasa, Jessica; Todd, Emily; Balzo, Maria; Cardaropoli, Simona; Bruselles, Alessandro; De Rubeis, Silvia; Buxbaum, Joseph D; Tartaglia, Marco; Sadikovic, Bekim; Ferrero, Giovanni Battista; Brusco, Alfredo

Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural Analyses

通过表观遗传学和结构分析证实,CHD8变异体导致智力发育障碍伴自闭症和巨头畸形的表型变异性和父系遗传

Furuta, Yutaka; Ezell, Kimberly M; Hamid, Rizwan; Cogan, Joy D; Cassini, Thomas A; Rives, Lynette; McMinn, Ashley; Shah, Shailee; Peltier, Amanda C; Layfield, Stephen; Fletcher, Robin S; Tedder, Matthew L; Louie, Raymond J; Lee, Jennifer A; Kerkhof, Jennifer; Rzasa, Jessica; Sadikovic, Bekim; Al Mamun, Abdullah; Sheehan, Jonathan H; Moth, Christopher W; Meiler, Jens; Vawter-Lee, Marissa; Mendoza-Sengco, Paola Maria; Holzen, Jennifer B; Pruthi, Sumit; Phillips, John A 3rd; Tinker, Rory J

Absence of a pancreatic microbiome in intraductal papillary mucinous neoplasm

导管内乳头状黏液肿瘤中缺乏胰腺微生物群

Marie-Madlen Pust, Darío Missael Rocha Castellanos, Kara Rzasa, Andrea Dame, Gleb Pishchany, Charnwit Assawasirisin, Andrew Liss, Carlos Fernandez-Del Castillo, Ramnik J Xavier