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

Scaling genomic reanalysis to unlock diagnoses and transform rare disease care

扩大基因组再分析规模,以突破诊断难题,变革罕见病治疗。

Rockowitz, Shira; Shao, Wanqing; French, Courtney; Truong, Tina K; Hagen, Jacob; McGonigle, Rylee; Geltzeiler, Alexa; Sheidley, Beth; Smith, Lacey; D'Gama, Alissa M; Irons, Mira; Chou, Janet; Stoler, Joan; Kritzer, Amy; Rodan, Lance; Shimamura, Akiko; Bodamer, Olaf; Sacharow, Stephanie; Soul, Janet S; Srivastava, Siddharth; Kennedy, Amy Roberts; Abu-El-Haija, Aya; Lai, Abbe; Olson, Heather; Juusola, Jane; Ryan, Erin; Friedman, Bethany; Singh, Anupama; Li, Cliff; Mallik, Rittika; Strickland, Gwendolyn; Prinzing, Gillian; Mo, Alisa; O'Donnell-Luria, Anne; Bolton, Jeff; Boone, Philip M; Brucker, William; Duyzend, Michael; Mahida, Sonal; Miller, David T; Omorodion, Jacklyn; Petit, Jeanette; Picker, Jonathan; Poduri, Annapurna; Carlston, Colleen; Wojcik, Monica H; Sliz, Piotr; Chung, Wendy K

VEGF-B is a novel mediator of ER stress which induces cardiac angiogenesis via RGD-binding integrins independent of VEGFR1/NRP activities.

VEGF-B 是一种新型的内质网应激介质,它通过 RGD 结合整合素诱导心脏血管生成,而与 VEGFR1/NRP 活性无关

Mallick Rahul, Montaser Ahmed B, Komi Henna, Juusola Greta, Tirronen Annakaisa, Gurzeler Erika, Barbiera Maria, Korpisalo Petra, Terasaki Tetsuya, Nieminen Tiina, Ylä-Herttuala Seppo

SeqFirst: Building equity access to a precise genetic diagnosis in critically ill newborns

SeqFirst:为危重症新生儿构建公平获得精准基因诊断的机会

Wenger, Tara L; Scott, Abbey; Kruidenier, Lukas; Sikes, Megan; Keefe, Alexandra; Buckingham, Kati J; Marvin, Colby T; Shively, Kathryn M; Bacus, Tamara; Sommerland, Olivia M; Anderson, Kailyn; Gildersleeve, Heidi; Davis, Chayna J; Love-Nichols, Jamie; MacDuffie, Katherine E; Miller, Danny E; Yu, Joon-Ho; Snook, Amy; Johnson, Britt; Veenstra, David L; Parish-Morris, Julia; McWalter, Kirsty; Retterer, Kyle; Copenheaver, Deborah; Friedman, Bethany; Juusola, Jane; Ryan, Erin; Varga, Renee; Doherty, Daniel A; Dipple, Katrina; Chong, Jessica X; Kruszka, Paul; Bamshad, Michael J

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability

UBR5基因杂合变异会导致一种神经发育综合征,表现为发育迟缓、自闭症和智力障碍。

Sabeh, Pascale; Dumas, Samantha A; Maios, Claudia; Daghar, Hiba; Korzeniowski, Marek; Rousseau, Justine; Lines, Matthew; Guerin, Andrea; Millichap, John J; Landsverk, Megan; Grebe, Theresa; Lindstrom, Kristin; Strober, Jonathan; Ait Mouhoub, Tarik; Zweier, Christiane; Steinraths, Michelle; Hebebrand, Moritz; Callewaert, Bert; Abou Jamra, Rami; Kautza-Lucht, Monika; Wegler, Meret; Kruszka, Paul; Kumps, Candy; Banne, Ehud; Waberski, Marta Biderman; Dieux, Anne; Raible, Sarah; Krantz, Ian; Medne, Livija; Pechter, Kieran; Villard, Laurent; Guerrini, Renzo; Bianchini, Claudia; Barba, Carmen; Mei, Davide; Blanc, Xavier; Kallay, Christine; Ranza, Emmanuelle; Yang, Xiao-Ru; O'Heir, Emily; Donald, Kirsten A; Murugasen, Serini; Bruwer, Zandre; Calikoglu, Muge; Mathews, Jennifer M; Lesieur-Sebellin, Marion; Baujat, Geneviève; Derive, Nicolas; Pierson, Tyler Mark; Murrell, Jill R; Shillington, Amelle; Ormieres, Clothilde; Rondeau, Sophie; Reis, André; Fernandez-Jaen, Alberto; Au, Ping Yee Billie; Sweetser, David A; Briere, Lauren C; Couque, Nathalie; Perrin, Laurence; Schymick, Jennifer; Gueguen, Paul; Lefebvre, Mathilde; Van Andel, Michael; Juusola, Jane; Antonarakis, Stylianos E; Parker, J Alex; Burnett, Barrington G; Campeau, Philippe M

A neuromorphic model of active vision shows how spatiotemporal encoding in lobula neurons can aid pattern recognition in bees

主动视觉的神经形态模型展示了小叶神经元中的时空编码如何帮助蜜蜂进行模式识别。

MaBouDi, HaDi; Roper, Mark; Guiraud, Marie-Geneviève; Juusola, Mikko; Chittka, Lars; Marshall, James A R

A proposed role for CDO1 in CNS development: Three children with rare missense variants and a neurological phenotype

CDO1在中枢神经系统发育中的潜在作用:三名携带罕见错义变异并表现出神经系统表型的儿童

Rowe, Leah; Mullegama, Sureni V; Lombardo, Rachel; Barnes, Caitlin; Towner, Shelley; Snyder, Matthew T; Heidlebaugh, Alexis; Riordan, Heather; Begtrup, Amber; Crunk, Amy; Cui, Hong; Dameron, Amy E; Folk, Leandra; Guillen Sacoto, Maria J; Juusola, Jane; Redlich, Olivia L; Reich, Adi; McGivern, Bobbi

De novo missense variants in the RPEL3 domain of PHACTR4 in individuals with overlapping congenital anomalies

PHACTR4 RPEL3 结构域中新生错义变异与重叠的先天性异常有关

Torti, Erin; Mullegama, Sureni V; De Bie, Isabelle; Mercier, Angelique; Carere, Deanna Alexis; Folk, Leandra; Juusola, Jane; Monaghan, Kristin G; Wentzensen, Ingrid M; Redlich, Olivia L; Reich, Adi; McGivern, Bobbi

Long-Term Weight Loss Outcomes in a Virtual Weight Care Clinic Prescribing a Broad Range of Medications Alongside Behavior Change

在虚拟体重管理诊所中,结合行为改变,使用多种药物治疗,可获得长期减重效果。

Clark, Jennifer M; Smith, Brooke J; Juusola, Jessie L; Kumar, Rekha B

Poor Effect of Empiric Antibiotic Treatment of Gram-Negative Bacteria on Myroides spp.: A Case Report and Literature Review

革兰氏阴性菌感染经验性抗生素治疗对类球菌属(Myroides spp.)疗效不佳:病例报告及文献综述

Juusola, Terhi; Rahkonen, Marko; Aho-Laukkanen, Elina; Mäki-Koivisto, Vesa; Junttila, Ilkka S

Sustained capillary enlargement induced by angiogenic gene therapy does not support post-ischemic muscle recovery of hyperlipidemic mice

血管生成基因治疗诱导的持续性毛细血管扩张并不能促进高脂血症小鼠缺血后肌肉的恢复。

Wirth, Galina; Juusola, Greta; Laakso, Hanne; Laham-Karam, Nihay; Ylä-Herttuala, Seppo; Korpisalo, Petra