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

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

U4 和 U6 snRNA 基因的新生突变和遗传性显性突变会导致视网膜色素变性。

Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; AlTalbishi, Ala'a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo

Clinical and Cytokine Features of Immune Effector Cell-Associated Hemophagocytic Lymphohistiocytosis-Like Syndrome.

免疫效应细胞相关噬血细胞性淋巴组织细胞增生症样综合征的临床和细胞因子特征。

Srinagesh Hrishikesh K, Kramer Anne Marijn, Baird John H, Reschke Agnes, Sahaf Bita, Cancilla Juancarlos, Syal Shriya, Su Yi-Jiun, Agarwal Neha, Jensen Alexandria M, Schultz Liora M, Jeyakumar Nikeshan, Ramakrishna Sneha, Davis Kara L, Dahiya Saurabh, Feldman Steven A, Mackall Crystal L, Muffly Lori S, Miklos David B, Frank Matthew J

Reduced risk of SARS-CoV-2 infection among household contacts with recent vaccination and past COVID-19 infection: results from 2 multisite case-ascertained household transmission studies

两项多中心病例确诊家庭传播研究的结果显示,近期接种疫苗和既往感染过 COVID-19 的家庭成员感染 SARS-CoV-2 的风险降低

Rolfes, Melissa A; Talbot, H Keipp; Morrissey, Kerry Grace; Stockwell, Melissa S; Maldonado, Yvonne; Nguyen, Huong Q; Lutrick, Karen; Bowman, Natalie M; Rao, Suchitra; Izurieta, Hector S; Zhu, Yuwei; Chappell, James; Battan-Wraith, Steph; Merrill, Lori S; McClaren, Son; Sano, Ellen; Petrie, Joshua G; Biddle, Jessica; Johnson, Sheroi; Salvatore, Philip; Smith-Jeffcoat, Sarah E; Asturias, Edwin J; Lin, Jessica T; Ellingson, Katherine D; Belongia, Edward A; Olivo, Vanessa; Mellis, Alexandra M; Grijalva, Carlos G

Longitudinal Associations From US State/Local Police and Social Service Expenditures to Suicides and Police-Perpetrated Killings Between Black and White Residents

美国州/地方警察和社会服务支出与黑人和白人居民自杀和警察杀人事件的纵向关联

English, Devin; Robinson, Ty A; Hoggard, Lori S; Muchomba, Felix M; Williams, Sharifa Z; Cantor, Joel C; Duberstein, Paul R; Millar, Brett M

De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa

U4 和 U6 snRNA 的新生突变和遗传性显性突变会导致视网膜色素变性。

Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; AlTalbishi, Ala'a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Issa, Peter Charbel; Chadderton, Naomi; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; de la Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fernández-Caballero, Lidia; Sallum, Juliana M Ferraz; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Goto, Kensuke; Gonzàlez-Duarte, Roser; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Knézy, Krisztina; Klaver, Caroline C W; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leroy, Bart P; Martín-Gutiérrez, María Pilar; Martins, Nelson; Mauring, Laura; Leibu, Rina; Lin, Siying; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahroo, Omar A; Manes, Gaël; McKibbin, Martin; McLaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Eddera, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina Giovanna; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stingl, Katarina; Suga, Akiko; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; van Aerschot, Joseph; van den Born, L Ingeborgh; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Rivolta, Carlo; Roosing, Susanne

Phase II study of novel CXCR2 agonist and Plerixafor for rapid stem cell mobilization in patients with multiple myeloma

一项针对多发性骨髓瘤患者的新型CXCR2激动剂和普乐沙福快速动员干细胞的II期研究

Sidana, Surbhi; Bankova, Andriyana K; Hosoya, Hitomi; Kumar, Shaji K; Holmes, Tyson H; Tamaresis, John; Le, Anne; Muffly, Lori S; Maysel-Auslender, Sofia; Johnston, Laura; Arai, Sally; Lowsky, Robert; Meyer, Everett; Rezvani, Andrew; Weng, Wen-Kai; Frank, Matthew J; Shiraz, Parveen; Maecker, Holden T; Lu, Ying; Miklos, David B; Shizuru, Judith A

Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach

通过多步骤高通量方法鉴定导致17型视网膜色素变性的新型3D基因组改变和复杂结构变异。

de Bruijn, Suzanne E; Panneman, Daan M; Weisschuh, Nicole; Cadena, Elizabeth L; Boonen, Erica G M; Holtes, Lara K; Astuti, Galuh D N; Cremers, Frans P M; Leijsten, Nico; Corominas, Jordi; Gilissen, Christian; Skowronska, Anna; Woodley, Jessica; Beggs, Andrew D; Toulis, Vasileios; Chen, Di; Cheetham, Michael E; Hardcastle, Alison J; McLaren, Terri L; Lamey, Tina M; Thompson, Jennifer A; Chen, Fred K; de Roach, John N; Urwin, Isabella R; Sullivan, Lori S; Roosing, Susanne

Gender Parity Analysis of the Editorial Boards of Influential Dermatology Journals: Cross-Sectional Study

有影响力的皮肤病学期刊编辑委员会性别平等分析:横断面研究

Szeto, Mindy D; Sivesind, Torunn E; Kim, Lori S; O'Connell, Katie A; Sprague, Kathryn A; Nong, Yvonne; Strock, Daniel M; Cao, Annie L; Wu, Jieying; Toledo, Lauren M; Wolfe, Sophia M; Boothby-Shoemaker, Wyatt; Dellavalle, Robert P

Bendamustine vs. fludarabine/cyclophosphamide lymphodepletion prior to BCMA CAR-T cell therapy in multiple myeloma

多发性骨髓瘤患者在接受BCMA CAR-T细胞治疗前,使用苯达莫司汀与氟达拉滨/环磷酰胺进行淋巴清除的比较

Sidana, Surbhi; Hosoya, Hitomi; Jensen, Alexandria; Liu, Lawrence; Goyal, Anmol; Hovanky, Vanna; Sahaf, Bita; Bharadwaj, Sushma; Latchford, Theresa; Arai, Sally; Leahy, Sheryl; Mei, Matthew; Budde, Lihua E; Muffly, Lori S; Frank, Matthew J; Dahiya, Saurabh; Htut, Myo; Miklos, David; Janakiram, Murali

Impact of Specialized Treatment Setting on Survival in Adolescent and Young Adult ALL

特殊治疗环境对青少年和青年急性淋巴细胞白血病患者生存率的影响

Muffly, Lori S; Parsons, Helen M; Miller, Kate; Li, Qian; Brunson, Ann; Keegan, Theresa H