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

Using the linear references from the pangenome to discover missing autism variants.

利用泛基因组的线性参考序列来发现缺失的自闭症变异。

Sui Yang, Lin Jiadong, Noyes Michelle D, Kwon Youngjun, Wong Isaac, Koundinya Nidhi, Harvey William T, Wu Mei, Hoekzema Kendra, Munson Katherine M, Garcia Gage H, Knuth Jordan, Wertz Julie, Wang Tianyun, Hennick Kelsey, Karunakaran Druha, Polo Prieto Rafael A, Meyer-Schuman Rebecca, Cherry Fisher, Pehlivan Davut, Suter Bernhard, Gustafson Jonas A, Miller Danny E, Berk-Rauch Hanna, Nowakowski Tomasz J, Chakravarti Aravinda, Zoghbi Huda Y, Eichler Evan E

Deep biochemical phenotyping reveals prognostic value of rare genetic variants in adult kidney stone disease

深入的生化表型分析揭示了罕见基因变异在成人肾结石疾病中的预后价值

Münch, Johannes; Petrovska, Jana; Figueiro-Silva, Joana; Rubio-Aliaga, Isabel; Cabello, Elena M; Ivanovski, Ivan; Papik, Michael; Oneda, Beatrice; Fuster, Daniel G; Seeger, Harald; Ernandez, Thomas; Buchkremer, Florian; Wuerzner, Gregoire; Dhayat, Nasser A; Ritter, Alexander; Segerer, Stephan; Roth, Beat; Rauch, Anita; Ferraro, Pietro Manuel; Bonny, Olivier; Wagner, Carsten A; Bachmann-Gagescu, Ruxandra

Boosting SIV-specific CD8+ T cell responses prior to ART interruption extends time to SIVmac239 rebound.

在 ART 中断之前增强 SIV 特异性 CD8+ T 细胞反应可延长 SIVmac239 反弹的时间。

Omange Were R, Varco-Merth Benjamin D, Fadeyi Omo, Marenco Alejandra, Takata Hiroshi, Duell Derick M, Goodwin William D, Armitage Paula, Fennessey Christine M, Kose Emek, Immonen Taina T, Kosmider Ewelina, Bosche William J, Fast Randy, Homick Chris, Oswald Kelli, Shoemaker Rebecca, Bochart Rachele, MacAllister Rhonda, Labriola Caralyn S, Smedley Jeremy V, Axthelm Michael K, Edlefsen Paul T, Keele Brandon F, Lifson Jeffrey D, Gergen Janina, Petsch Benjamin, Rauch Susanne, Picker Louis J, Okoye Afam A

COVID-19 vaccination status during pregnancy and preeclampsia risk: the pandemic-era cohort of the INTERCOVID consortium

妊娠期新冠疫苗接种状况与先兆子痫风险:INTERCOVID联盟疫情时代队列研究

Cavoretto, Paolo Ivo; Villar, Jose; Farina, Antonio; Fabre, Marta; Deruelle, Philippe; Agudelo, Agustin Conde; Ayede, Adejumoke Idowu; Ernawati, Ernawati; Conti, Constanza Soto; Bako, Babagana; Sentilhes, Loïc; Ikenoue, Satoru; Winsey, Adele; Takahashi, Ken; Ariff, Shabina; Rauch, Stephen; Tavchioska, Gabriela; Gravett, Michael; Nieto, Ricardo; Prefumo, Federico; Napolitano, Raffaele; D'Ambrosi, Francesco; Salomon, Laurent J; Benski, Anne Caroline; Rodriguez-Sibaja, Maria José; Casale, Roberto; Deantoni, Sonia; Maiz, Nerea; Savasi, Valeria; Cetin, Irene; Oberto, Manuela; Vecciarelli, Carmen; Capelli, Maria Carola; Liu, Becky; Mhatre, Mohak; Silva do Vale, Marynéa; Etuk, Saturday; Galadanci, Hadiza Shehu; Teji, Jagjit S; Hubka, Theresa; Sobrero, Helena; Crespo, Guadalupe Albornoz; Rego, Albertina; Aminu, Muhammad Baffah; Craik, Rachel; Usman, Mustapha Ado; Kalafat, Erkan; Easter, Sarah Rae; Nachinab, Vincent Bizor; Baafi, Eric; Savorani, Mónica; Caceres, Daniela; García-May, Perla K; Bowale, Abimbola; Kholin, Alexey; Cheikh Ismail, Leila; Lipschuetz, Michal; Giudice, Carolina; Thornton, Jim; Thiruvengadam, Ramachandran; Abd-Elsalam, Sherief; Duro, Eduardo A; Hernandez, Valeria; Gandino, Serena; Bhutta, Zulfi; Eskenazi, Brenda; Kennedy, Stephen; Gunier, Robert; Papageorghiou, Aris

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B

由eIF3复合物组成基因EIF3A和EIF3B的功能缺失变异引起的心血管、颅面和神经发育障碍

Erkut, Esra; Somerville, Cherith; Schwartz, Marci L B; McDonald, Laura; Ding, Qiliang; Moran, Olivia M; Chen, Xin; Manshaei, Roozbeh; Riedijk, Anne-Sophie; Schnürer, Marie-Therese; Koboldt, Daniel C; Antonarakis, Stylianos E; Bedoukian, Emma C; Blanc, Xavier; Conlin, Laura K; Cox, Helen; Diderich, Karin E M; Dingmann, Bri; Dubourg, Christèle; Elmslie, Frances; Escobar, Luis F; Gosselin, Rachel; Guillen Sacoto, Maria J; Haag, Cynthia D; Herzig, Lisa; Jeeneea, Ramanand; Kenia, Priti; Kolokotronis, Konstantinos; Kopps, Anna M; Kupper, Christin; Lees, Hayley; Leonard, Jacqueline; Levy, Jonathan; Littlejohn, Rebecca; Mayer, Demian; McBride, Kim L; McLean, Scott D; Pattani, Nikhil; Perrin, Laurence; Pingault, Véronique; Quelin, Chloé; Ranza, Emmanuelle; Rauch, Anita; Reichert, Sara L; Rosmaninho-Salgado, Joana; Skraban, Cara; Sousa, Sérgio; Stuebben, Melissa; Zanoni, Paolo; Kim, Raymond H; Scott, Ian C; Jobling, Rebekah K

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

KDM2A基因的新生变异会导致综合征性神经发育障碍。

Anderson Eric N, Drukewitz Stephan, Kour Sukhleen, Chimata Anuradha V, Rajan Deepa S, Schönnagel Senta, Stals Karen L, Donnelly Deirdre, O'Sullivan Siobhan, Mantovani John F, Tan Tiong Y, Stark Zornitza, Zacher Pia, Chatron Nicolas, Monin Pauline, Drunat Severine, Vial Yoann, Latypova Xenia, Levy Jonathan, Verloes Alain, Carter Jennefer N, Bonner Devon E, Shankar Suma P, Bernstein Jonathan A, Cohen Julie S, Comi Anne, Carere Deanna Alexis, Dyer Lisa M, Mullegama Sureni V, Sanchez-Lara Pedro A, Grand Katheryn, Kim Hyung-Goo, Ben-Mahmoud Afif, Gospe Sidney M Jr, Belles Rebecca S, Bellus Gary, Lichtenbelt Klaske D, Oegema Renske, Rauch Anita, Ivanovski Ivan, Mau-Them Frederic Tran, Garde Aurore, Rabin Rachel, Pappas John, Bley Annette E, Bredow Janna, Wagner Timo, Decker Eva, Bergmann Carsten, Domenach Louis, Margot Henri, Lemke Johannes R, Abou Jamra Rami, Hentschel Julia, Mefford Heather, Singh Amit, Pandey Udai Bhan, Platzer Konrad

Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking.

JKAMP 的双等位基因功能丧失变异会导致与 GPR37 运输失调相关的神经发育综合征。

Chacon-Millan Pilar, Delicato Antonella, Mahmood Arif, Tirozzi Alfonsina, Monfregola Jlenia, Duroure Karine, Serafini Malo, Kroll François, El-Hage Océane, Salah Somaya, Atawneh Osama M, Atik Tahir, Durmusalioglu Enise Avcı, Isik Esra, Almontashiri Naif A M, Tabarki Brahim, Kanaan Moien, Rabie Grace, Torella Annalaura, Spampanato Carmine, Battaglia Domenica Immacolata, Begemann Anais, Steindl Katharina, Rauch Anita, Zweier Markus, Hajianpour Mj, Brigatti Karlla W, Alhashem Amal, Maroofian Reza, Feigerlova Eva, Lambert Laetitia, Feillet Francois, Abbott Mary-Alice, D'Alessio Alfonso Manuel, Gonzaga-Jauregui Claudia, Tawk Marcel, De Matteis Maria Antonietta, Del Bene Filippo, Zollino Marcella, Nigro Vincenzo, Venditti Rossella, Franco Brunella, Morleo Manuela

Circulating HBV RNA and hepatitis B core-related antigen as determinants of HBsAg loss in persons with HIV in Europe

欧洲HIV感染者体内循环HBV RNA和乙型肝炎核心相关抗原是HBsAg消失的决定因素

Begré, Lorin; Boyd, Anders; Plissonnier, Marie-Laure; Testoni, Barbara; Béguelin, Charles; Suter-Riniker, Franziska; Scholtès, Caroline; Rockstroh, Jürgen K; Lacombe, Karine; Peters, Lars; Heil, Marintha; Levrero, Massimo; Rauch, Andri; Zoulim, Fabien; Wandeler, Gilles

Accurate and reliable detection of clonal hematopoiesis in plasma cell-free DNA

准确可靠地检测血浆游离DNA中的克隆性造血

Parker, Alyssa C; Van Amburg, Joseph C; Pershad, Yash; Ong, David A; Hoey, Ketan J; Farady, Christopher J; Rauch, Philipp J; Mendelson, Michael M; Heimlich, J Brett; Ferrell, P Brent; Bick, Alexander G

Characterisation of Urine-Derived Cells for the Molecular Diagnosis of Rare Disorders

尿液来源细胞的表征及其在罕见疾病分子诊断中的应用

Ludwig, Karissa; Wu, Zenghui; Bardai, Ghalib; Marulanda, Juliana; Munns, Craig F; Moffatt, Pierre; Rauch, Frank