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

Inherited resilience to clonal hematopoiesis by modifying stem cell RNA regulation

通过改变干细胞RNA调控来获得对克隆性造血的遗传抵抗力

Gaurav Agarwal,Mateusz Antoszewski,Xueqin Xie,Yash Pershad,Uma P Arora,Chi-Lam Poon,Peng Lyu,Andrew J Lee,Chun-Jie Guo,Tianyi Ye,Laila Barakat Norford,Anna-Lena Neehus,Lucrezia Della Volpe,Lara Wahlster,Diyanath Ranasinghe,Tzu-Chieh Ho,Trevor S Barlowe,Arthur Chow,Alexandra Schurer,James Taggart,Benjamin H Durham,Omar Abdel-Wahab,Kathy L McGraw,James M Allan,Ruslan Soldatov,Alexander G Bick,Michael G Kharas,Vijay G Sankaran

Effects of lifestyle interventions in pregnancy on gestational diabetes: individual participant data and network meta-analysis

妊娠期生活方式干预对妊娠期糖尿病的影响:个体参与者数据和网络荟萃分析

Allotey, John; Coomar, Dyuti; Ensor, Joie; Ruiz-Calvo, Gabriel; Boath, Anna; Ogwulu, Chidubem Okeke; Monahan, Mark; Kabeya, Valencia; Zheng, Min; McNeill, Rachel; Meacham, Hollie; Mahmoud, Ghadir; Simpson, Sharon Anne; Hitman, Graham A; Nirantharakumar, Krish; Heslehurst, Nicola; Pelaez, Mireia; Tonstad, Serena; Yeo, SeonAe; Cecatti, Jose G; Facchinetti, Fabio; Motahari-Tabari, Narges Sadat; Renault, Kristina M; Guelfi, Kym J; Jensen, Dorte Møller; Harrison, Cheryce; Khomami, Mahnaz Bahri; Calle-Pascual, Alfonso L; McAuliffe, Fionnuala M; Hauner, Hans; Barakat, Ruben; Geiker, Nina Rica Wium; Vinter, Christina Anne; Phelan, Suzanne; Kinnunen, Tarja I; Kothari, Alka; Teede, Helena; Poston, Lucilla; Betrán, Ana Pilar; Moss, Ngawai; Iliodromiti, Stamatina; Austin, Frances; Roberts, Tracy; Zamora, Javier; Riley, Richard D; Thangaratinam, Shakila

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

A comparative effectiveness trial for universal psychosocial screening with the Psychosocial Assessment Tool (PAT) across 18 childhood cancer programs in the United States: adoption, penetration, and health equity

一项比较美国18个儿童癌症项目中普遍采用心理社会评估工具(PAT)进行心理社会筛查的有效性试验:采纳率、普及率和健康公平性

Barakat, Lamia P; Scialla, Michele A; Ramaswamy, Nithyasri; Deatrick, Janet A; Arasteh, Kamyar; Sandler, Eric; Hammer, Shannon N; Kazak, Anne E

Iran's humanitarian crisis: war, legality, and the erosion of population health

伊朗的人道主义危机:战争、法律和人口健康受损

Blanchet, Karl; Barakat, Sultan; Kumar, Bernadette; Spiegel, Paul

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies

CHD3相关Snijders-Blok-Campeau综合征表观遗传特征的鉴定揭示了CHARGE综合征表观遗传特征的异质性:朝着更好地表征染色质病变迈进

Santini, Amandine; Tognon, Angelo; Richard, Anne-Claire; Velasco, Guillaume; Phan, Gilles; Marzin, Pauline; Maury, Fabien; May, Angele; Michot, Caroline; Chirita-Emandi, Adela; Saraiva, Jorge M; Ballesta-Martinez, Maria Juliana; Lyonnet, Stanislas; Sansović, Ivona; Barakat, Tahsin Stefan; Brunelle, Perrine; Ghoumid, Jamal; Le Guillou, Xavier; Le Tanno, Pauline; Willems, Marjolaine; Zenker, Martin; Schanze, Ina; Moortgat, Stéphanie; Isidor, Bertrand; Paulet, Alix; Yeung, Alison; Levy, Jonathan; Ruscitti, Federica; Pias-Peleteiro, Leticia; Rio, Marlène; Courtin, Thomas; Abdallah, Hamza Hadj; Ducreux, Stéphanie; Laloy, Jean-Sérène; Rollier, Paul; Guerrot, Anne-Marie; Chatron, Nicolas; Demurger, Florence; Goldenberg, Alice; Delanne, Julian; Faivre, Laurence; Lecoquierre, François; Nicolas, Gaël; Coussement, Aurélie; Collet, Corinne; Herenger, Yvan; Defrance, Matthieu; Cormier-Daire, Valérie; Charbonnier, Camille; de Dieuleveult, Maud

Using diffusion-induced growth instabilities to measure line tension at liquid condensed-liquid expanded domain boundaries

利用扩散诱导生长不稳定性测量液态凝聚态-液态膨胀域边界处的线张力

McAllister, Zachary D; Valtierrez-Gaytan, Cain; Barakat, Joseph M; Smith, Alexander D; Solberg, Bee H; Dosch, Aidan S; Stottrup, Benjamin L; Zasadzinski, Joseph A

Impaired Perfusion and Early Ischemic Stroke Recurrence in Symptomatic Intracranial Atherosclerosis: BIORISK ICAS Study

症状性颅内动脉粥样硬化患者的灌注受损和早期缺血性卒中复发:BIORISK ICAS 研究

Yaghi, Shadi; Khan, Farhan; Lewis, Skylar; Stipanovich, Ava; Choi, Richard; Baker, Richard; Al Kasab, Sami; Abu Qdais, Ahmad; Yaddanapudi, Sridhara S; Sultana, Sabiha; Khan, Muhib; Malik, Maarij; Klaas, James; Bakradze, Ekaterina; Aemaz Ur Rehman, Muhammad; Leon Guerrero, Christopher; Ressler, Hadley Walsh; Saleh Velez, Faddi G; Owens, Cameron; Pinto, Camila Bonin; McCullough-Hicks, Margy; Cooper, Dawson; Parameswaran Pillai, Abhiram; Hariharan, Praveen; Alam, Shaista; Mayer, Morgan; Heldner, Mirjam R; Kugler, Irina; Antonenko, Kateryna; Almiri, William; Martins, Sheila; Secchi, Thais L; Mantovani, Gabriel; Rothstein, Aaron; Sloane, Kelly; Krishnaiah, Balaji; Alfred, Linda; Elangovan, Cheran; Vishnu, Venugopalan Y; Chandu, Meena; Agarwal, Ayush; Romoli, Michele; Marrone, Nicola; Vozzi, Stefano; Ghannam, Malik; Elshikh, Mohamed; Dibas, Mahmoud; Hou, Yan; Peshwe, Krithika; Tunguturi, Ajay; Marto, João Pedro; Duarte Armindo, Rui; Frontera, Jennifer; Kuohn, Lindsey; AlMajali, Mohammad; Zaidat, Osama O; Barakat, Benan; Khan, Niha; Simpkins, Alexis N; Sen, Shayak; Coelho, Mariana; Sargento Fritas, Joao; Sousa, Joao Andre; Aguiar de Sousa, Diana; Soares, Mafalda; Cyntia Lima Fonseca Rodrigues, Amanda; Jhaveri, Aditya; Morsi, Rami Z; Siegler, James; Aziz, Yasmin N; Harker, Pablo; Bhati, Sonia; Vassilopoulou, Sophia; Tountopoulou, Argyro; de Havenon, Adam; Muddasani, Varsha; Henninger, Nils; Tran, Hieu; Helenius, Johanna; Khasawneh, Mohammad; Vellimana, Ananth; Apfel, Ryan; Molaie, Amir; Mannino, Marina; Terruso, Valeria; El Halabi, Tarek; Reda, Mahasen; Tamer, Christel; Klein, Piers; Shu, Liqi; Khatri, Pooja; Furie, Karen; Nguyen, Thanh N; Liebeskind, David S; Prabhakaran, Shyam

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia

由回文序列介导的16p13.3三倍体可导致一种可识别的神经退行性疾病,并伴有共济失调。

Fasham, James; Rankin, Julia; Schot, Rachel; White, Susan M; Bell, Katrina M; Wakeling, Matthew N; Mallin, Lucy J; Shah, Alex; de Silva, Michelle G; Francis, David I; Walsh, Maie; Jones, Emily E; Vijayakumar, Kayal; Johnson, Katie; Sansbury, Francis H; Te Water Naudé, Johann; Giunti, Paola; Hadjivassiliou, Marios; Nemeth, Andrea H; Tofaris, George K; Rinaldi, Carlo; Banos-Pinero, Benito; Selikhva, Marianna; Ubeyratna, Nishanka; Kievit, Anneke; Sleutels, Frank; van Giessen, Joey; Barakat, Tahsin Stefan; Hall, Timothy S; Whone, Alan; Thomas, Eleanor; Leslie, Joseph S; Bamford, Rosemary A; Jeffries, Aaron R; Lord, Jenny; Walker, Susan; van Ham, Tjakko J; Hill, Sue L; McGavin, Lucy; Parrish, Andrew; Crosby, Andrew H; Baple, Emma L; Pagnamenta, Alistair T

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy.

BLOC1S1 变异导致溶酶体和自噬缺陷,从而引起髓鞘形成不足的脑白质营养不良伴癫痫性脑病。

De Pace Raffaella, Dominguez Gonzalez Carlos A, Williamson Chad D, Helman Guy, Sanderson Leslie E, Disanza Brianna, Hsiao-Sánchez Nicole, Pizzino Amy, Muirhead Kayla, Bonkowsky Joshua L, Taft Ryan J, Sannaa Nouriya A, Dias Patricia, Quintas Ana Sofia, Mutlu Mehmet Burak, Bas Hasan, Oztürk Hasan, Mojarrad Majid, Alerasool Masoome, Sheikhani Shahriar, Jabbar Hayder Kadhim, Issa Awatif Hameed, Houlden Henry, Zonic Emir, Barakat Tahsin Stefan, Tripolski Kornelia, Romito Antonio, Teferedegn Eden, Vossough Arastoo, Whitehead Matthew T, Bhoj Elizabeth, Ahrens-Nicklas Rebecca C, Simons Cas, Wolvetang Ernst, van Ham Tjakko J, Bertoli-Avella Aida M, Maroofian Reza, Bonifacino Juan S, Vanderver Adeline