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

Genetic diagnosis of CYP21A2-related CAH: adaptive sampling long-read sequencing is an accurate and scalable solution

CYP21A2相关先天性肾上腺皮质增生症的基因诊断:自适应采样长读长测序是一种准确且可扩展的解决方案

Lildballe, Dorte Launholt; Huno, Morten Reiffenstein; Ridder, Lukas Ochsner Reynaud; Balle, Camilla Mains; Drue, Simon Opstrup; Berglund, Agnethe; Dunø, Morten; Bak, Ebbe Norskov; Viuff, Mette Hansen; Rasmussen, Laura Skak; Gravholt, Claus Højbjerg

Eplerenone improves kidney function and cardiac performance in obese male mice.

依普利酮可改善肥胖雄性小鼠的肾功能和心脏功能。

Banah Ayman K, Qi Bingxue, Koh Ryan, Lawlor Alexander, Wang Tianzhen, Musale Vishal, Mains Joanne, Murdoch Colin E, Kang Li

Inexpensive and Reproducible 3D-Printed Mosquito Emergence Containers

低成本且可复制的3D打印蚊子羽化容器

Kumar, Naveen; Van Alstyne, Cassandra; Mains, James W; Brelsfoard, Corey L

Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies known and novel cross-population and ancestry-specific associations as novel risk loci for Alzheimer's disease

一项包含56241名个体的多族裔全基因组荟萃分析,发现了已知的和新的跨人群及族裔特异性关联,这些关联被认为是阿尔茨海默病的新风险位点。

Rajabli, Farid; Benchek, Penelope; Tosto, Giuseppe; Kushch, Nicholas; Sha, Jin; Bazemore, Katrina; Zhu, Congcong; Lee, Wan-Ping; Haut, Jacob; Hamilton-Nelson, Kara L; Wheeler, Nicholas R; Zhao, Yi; Farrell, John J; Grunin, Michelle A; Leung, Yuk Yee; Kuksa, Pavel P; Li, Donghe; da Fonseca, Eder Lucio; Mez, Jesse B; Palmer, Ellen L; Pillai, Jagan; Sherva, Richard M; Song, Yeunjoo E; Zhang, Xiaoling; Ikeuchi, Takeshi; Iqbal, Taha; Pathak, Omkar; Valladares, Otto; Reyes-Dumeyer, Dolly; Kuzma, Amanda B; Abner, Erin; Adams, Larry D; Adams, Perrie M; Aguirre, Alyssa; Albert, Marilyn S; Albin, Roger L; Allen, Mariet; Alvarez, Lisa; Apostolova, Liana G; Arnold, Steven E; Asthana, Sanjay; Atwood, Craig S; Auerbach, Sanford; Ayres, Gayle; Baldwin, Clinton T; Barber, Robert C; Barnes, Lisa L; Barral, Sandra; Beach, Thomas G; Becker, James T; Beecham, Gary W; Beekly, Duane; Benitez, Bruno A; Bennett, David; Bertelson, John; Bird, Thomas D; Blacker, Deborah; Boeve, Bradley F; Bowen, James D; Boxer, Adam; Brewer, James; Burke, James R; Burns, Jeffrey M; Buxbaum, Joseph D; Cairns, Nigel J; Cantwell, Laura B; Cao, Chuanhai; Carlson, Christopher S; Carlsson, Cynthia M; Carney, Regina M; Carrasquillo, Minerva M; Chasse, Scott; Chesselet, Marie-Francoise; Chin, Nathaniel A; Chui, Helena C; Chung, Jaeyoon; Craft, Suzanne; Crane, Paul K; Cribbs, David H; Crocco, Elizabeth A; Cruchaga, Carlos; Cuccaro, Michael L; Cullum, Munro; Darby, Eveleen; Davis, Barbara; De Jager, Philip L; DeCarli, Charles; DeToledo, John; Dick, Malcolm; Dickson, Dennis W; Dombroski, Beth A; Doody, Rachelle S; Duara, Ranjan; Ertekin-Taner, NIlüfer; Evans, Denis A; Faber, Kelley M; Fairchild, Thomas J; Fallon, Kenneth B; Fardo, David W; Farlow, Martin R; Fernandez-Hernandez, Victoria; Ferris, Steven; Friedland, Robert P; Foroud, Tatiana M; Frosch, Matthew P; Fulton-Howard, Brian; Galasko, Douglas R; Gamboa, Adriana; Gearing, Marla; Geschwind, Daniel H; Ghetti, Bernardino; Gilbert, John R; Go, Rodney C P; Goate, Alison M; Grabowski, Thomas J; Graff-Radford, Neill R; Green, Robert C; Growdon, John H; Hakonarson, Hakon; Hall, James; Hamilton, Ronald L; Harari, Oscar; Hardy, John; Harrell, Lindy E; Head, Elizabeth; Henderson, Victor W; Hernandez, Michelle; Hohman, Timothy; Honig, Lawrence S; Huebinger, Ryan M; Huentelman, Matthew J; Hulette, Christine M; Hyman, Bradley T; Hynan, Linda S; Ibanez, Laura; Jarvik, Gail P; Jayadev, Suman; Jin, Lee-Way; Johnson, Kim; Johnson, Leigh; Kamboh, M Ilyas; Karydas, Anna M; Katz, Mindy J; Kauwe, John S; Kaye, Jeffrey A; Keene, C Dirk; Khaleeq, Aisha; Kikuchi, Masataka; Kim, Ronald; Knebl, Janice; Kowall, Neil W; Kramer, Joel H; Kukull, Walter A; LaFerla, Frank M; Lah, James J; Larson, Eric B; Lerner, Alan; Leverenz, James B; Levey, Allan I; Lieberman, Andrew P; Lipton, Richard B; Logue, Mark; Lopez, Oscar L; Lunetta, Kathryn L; Lyketsos, Constantine G; Mains, Douglas; Margaret, Flanagan E; Marson, Daniel C; Martin, Eden Rr; Martiniuk, Frank; Mash, Deborah C; Masliah, Eliezer; Massman, Paul; Masurkar, Arjun; McCormick, Wayne C; McCurry, Susan M; McDavid, Andrew N; McDonough, Stefan; McKee, Ann C; Mesulam, Marsel; Miller, Bruce L; Miller, Carol A; Miller, Joshua W; Montine, Thomas J; Monuki, Edwin S; Morris, John C; Mukherjee, Shubhabrata; Myers, Amanda J; Nguyen, Trung; Obisesan, Thomas; O'Bryant, Sid; Olichney, John M; Ory, Marcia; Palmer, Raymond; Parisi, Joseph E; Paulson, Henry L; Pavlik, Valory; Paydarfar, David; Perez, Victoria; Peskind, Elaine; Petersen, Ronald C; Petrovitch, Helen; Pierce, Aimee; Polk, Marsha; Poon, Wayne W; Potter, Huntington; Qu, Liming; Quiceno, Mary; Quinn, Joseph F; Raj, Ashok; Raskind, Murray; Reiman, Eric M; Reisberg, Barry; Reisch, Joan S; Ringman, John M; Roberson, Erik D; Rodriguear, Monica; Rogaeva, Ekaterina; Rosen, Howard J; Rosenberg, Roger N; Royall, Donald R; Sabbagh, Marwan; Sadovnick, A Dessa; Sager, Mark A; Sano, Mary; Saykin, Andrew J; Schneider, Julie A; Schneider, Lon S; Seeley, William W; Slifer, Susan H; Small, Scott; Smith, Amanda G; Smith, Janet P; Sonnen, Joshua A; Spina, Salvatore; George-Hyslop, Peter St; Starks, Takiyah D; Stern, Robert A; Stevens, Alan B; Strittmatter, Stephen M; Sultzer, David; Swerdlow, Russell H; Tanzi, Rudolph E; Tilson, Jeffrey L; Trojanowski, John Q; Troncoso, Juan C; Tsolaki, Magda; Tsuang, Debby W; Van Deerlin, Vivianna M; van Eldik, Linda J; Vance, Jeffery M; Vardarajan, Badri N; Vassar, Robert; Vinters, Harry V; Vonsattel, Jean-Paul; Weintraub, Sandra; Welsh-Bohmer, Kathleen A; Whitehead, Patrice L; Wijsman, Ellen M; Wilhelmsen, Kirk C; Williams, Benjamin; Williamson, Jennifer; Wilms, Henrik; Wingo, Thomas S; Wisniewski, Thomas; Woltjer, Randall L; Woon, Martin; Wright, Clinton B; Wu, Chuang-Kuo; Younkin, Steven G; Yu, Chang-En; Yu, Lei; Zhu, Xiongwei; Kunkle, Brian W; Bush, William S; Miyashita, Akinori; Byrd, Goldie S; Wang, Li-San; Farrer, Lindsay A; Haines, Jonathan L; Mayeux, Richard; Pericak-Vance, Margaret A; Schellenberg, Gerard D; Jun, Gyungah R; Reitz, Christiane; Naj, Adam C

Peptidylglycine alpha-amidating monooxygenase is important in mice for beta-cell cilia formation and insulin secretion but promotes diabetes risk through beta-cell independent mechanisms.

肽酰甘氨酸α-酰胺化单加氧酶在小鼠中对β细胞纤毛形成和胰岛素分泌很重要,但通过非β细胞机制促进糖尿病风险

Chen Yi-Chun, Bäck Nils E, Zhen Jenicia, Xiong Lena, Komba Mitsuhiro, Gloyn Anna L, MacDonald Patrick E, Mains Richard E, Eipper Betty A, Verchere C Bruce

A simplified hybrid capture approach retains high specificity and enables PCR-free workflow

简化的杂交捕获方法保持了高特异性,并实现了无需PCR的工作流程。

Mah, Adeline Huizhen; Qi, Xiaodong; Zhao, Junhua; Wiseman, Kelly; Edoli, Laure; Metcalfe, Kyle; Donohoe, Kyle; Ojeda, Micah; Billings, Sophie; Moreno, Juan; McCowin, Marina; Krajacich, Ben; Green, Kevin; Adhikary, Ramkrishna; Boddicker, Andrew; Chan, Joshua; Mains, Peter; Lajoie, Bryan; Devitt, Sean; Kruglyak, Semyon; Levy, Shawn; Previte, Michael

The Danish Turner Syndrome Cryopreservation study: PROTOCOL for a prospective cohort Study on reproductive outcomes after ovarian tissue cryopreservation in girls with Turner syndrome

丹麦特纳综合征冷冻保存研究:一项关于特纳综合征女孩卵巢组织冷冻保存后生殖结局的前瞻性队列研究方案

Balle, Camilla Mains; Nørgaard, Signe M; Baggesgaard, Christine M B; Valsted, Line B; Viuff, Mette H; Naeraa, Rune W; Dueholm, Margit; Jakobsen, Mette-Cathrine R; Bache, Iben; Kristensen, Stine Gry; Fischer, Margit B; Hansen, Dorte; Main, Katharina M; Pedersen, Anette T; Hagen, Casper P; Gravholt, Claus H

Flexible, production-scale, human whole genome sequencing on a benchtop sequencer

在台式测序仪上进行灵活、生产规模的人类全基因组测序

Kevin Green ,Benjamin Krajacich ,Kelly Wiseman ,Peter T Mains ,Samantha Robertson ,Sophie Billings ,Marina McCowin ,Mitch Sudkamp ,Ching Shing Lo ,Bryan R Lajoie ,Semyon Kruglyak ,Shawn Levy ,Junhua Zhao

Comparative cohort study of post-acute COVID-19 infection with a nested, randomized controlled trial of ivabradine for those with postural orthostatic tachycardia syndrome (the COVIVA study)

一项针对 COVID-19 急性感染后患者的比较队列研究,同时嵌套了一项伊伐布雷定治疗体位性心动过速综合征的随机对照试验(COVIVA 研究)。

Saunders, David; Arnold, Thomas B; Lavender, Jason M; Bi, Daoqin; Alcover, Karl; Hellwig, Lydia D; Leazer, Sahar T; Mohammed, Roshila; Markos, Bethelhem; Perera, Kanchana; Shaw, Dutchabong; Kobi, Priscilla; Evans, Martin; Mains, Autumn; Tanofsky-Kraff, Marian; Goguet, Emilie; Mitre, Edward; Pratt, Kathleen P; Dalgard, Clifton L; Haigney, Mark C

A study protocol for determining the role of Sympathetic activity in Post-injury outcomes: Impact on sleep and caRdiovascular health InvesTigation (SPIRIT)

一项旨在确定交感神经活动在损伤后结果中的作用的研究方案:对睡眠和心血管健康的影响研究(SPIRIT)

Walker, Lauren E; Jurick, Sarah M; Thomas, Victoria; Arnold, Thomas; Elisman, Katerina; Kalra, Sachi; Mains, Autumn; Rioux, Stephanie; Galarneau, Michael; McCabe, Cameron; Lavender, Jason M; Collen, Jacob; Haigney, Mark C; Solhjoo, Soroosh; Stewart, Ian J