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

Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing

通过新生儿筛查和下一代测序技术,在男性中发现了嵌合型 X 连锁肾上腺脑白质营养不良症。

Keefe, Alexandra C; Jensen, Dana M; Pham, Meranda M; Au, Natalie Y T; Beckman, Erika; Penon-Portmann, Monica; Shelkowitz, Emily; Bend, Renee; Morrow, Michelle M; Kruszka, Paul; Vats, Divya; Russell, Bianca E; Chan, Erica; Wong, Derek; Rabani, Ahna; O'Grady, Lauren; Sahai, Inderneel; Widmeyer, Kimberly; Sperry, Ethan D; Hallinan, Barbara E; Tryon, Rebecca; Lund, Troy C; Eichler, Florian S; Sun, Angela; Bennett, James T

De novo missense variants in the PP2A regulatory subunit PPP2R2B in a neurodevelopmental syndrome: potential links to mitochondrial dynamics and spinocerebellar ataxias

神经发育综合征中 PP2A 调节亚基 PPP2R2B 的新生错义变异:与线粒体动力学和脊髓小脑共济失调的潜在联系

Priyanka Sandal, Chian Ju Jong, Ronald A Merrill, Grace J Kollman, Austin H Paden, Eric G Bend, Jennifer Sullivan, Rebecca C Spillmann, Vandana Shashi, Anneke T Vulto-van Silfhout, Rolph Pfundt, Bert B A de Vries, Pan P Li, Louise S Bicknell, Stefan Strack1

mTORC1 regulates cell survival under glucose starvation through 4EBP1/2-mediated translational reprogramming of fatty acid metabolism

mTORC1通过4EBP1/2介导的脂肪酸代谢翻译重编程来调节葡萄糖饥饿条件下的细胞存活

Tal Levy #, Kai Voeltzke #, Laura Hruby #, Khawla Alasad #, Zuelal Bas, Marteinn Snaebjörnsson, Ran Marciano, Katerina Scharov, Mélanie Planque, Kim Vriens, Stefan Christen, Cornelius M Funk, Christina Hassiepen, Alisa Kahler, Beate Heider, Daniel Picard, Jonathan K M Lim, Anja Stefanski, Katja Bend

Structural deficits in key domains of Shank2 lead to alterations in postsynaptic nanoclusters and to a neurodevelopmental disorder in humans

Shank2 关键域的结构缺陷导致突触后纳米簇发生改变,并导致人类神经发育障碍

Fatemeh Hassani Nia #, Daniel Woike #, Isabel Bento, Stephan Niebling, Debora Tibbe, Kristina Schulz, Daniela Hirnet, Matilda Skiba, Hans-Hinrich Hönck, Katharina Veith, Christian Günther, Tasja Scholz, Tatjana Bierhals, Joenna Driemeyer, Renee Bend, Antonio Virgilio Failla, Christian Lohr, Maria Ga

A geo-gender-based analysis of human health: The presence of cut flower farms can attenuate pesticide exposure in African communities, with women being the most vulnerable

基于地理性别视角的人类健康分析:鲜切花农场的存在可以降低非洲社区的农药暴露风险,其中女性最为脆弱。

Creed, Irena F; Erratt, Kevin J; Henley, Phaedra; Tsimbiri, Pamela F; Bend, John R; Shivoga, William A; Trick, Charles G

PRDM1 DNA-binding zinc finger domain is required for normal limb development and is disrupted in split hand/foot malformation

PRDM1 DNA 结合锌指结构域是正常肢体发育所必需的,在手足分裂畸形中被破坏

Brittany T Truong, Lomeli C Shull, Ezra Lencer, Eric G Bend, Michael Field, Elizabeth E Blue, Michael J Bamshad, Cindy Skinner, David Everman, Charles E Schwartz, Heather Flanagan-Steet, Kristin B Artinger

ARF1-related disorder: phenotypic and molecular spectrum

ARF1相关疾病:表型和分子谱

de Sainte Agathe, Jean-Madeleine; Pode-Shakked, Ben; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Fergelot, Patricia; Delmas, Jean; Keren, Boris; Poirsier, Céline; Alkuraya, Fowzan S; Tabarki, Brahim; Bend, Eric; Davis, Kellie; Bebin, Martina; Thompson, Michelle L; Bryant, Emily M; Wagner, Matias; Hannibal, Iris; Lenberg, Jerica; Krenn, Martin; Wigby, Kristen M; Friedman, Jennifer R; Iascone, Maria; Cereda, Anna; Miao, Térence; LeGuern, Eric; Argilli, Emanuela; Sherr, Elliott; Caluseriu, Oana; Tidwell, Timothy; Bayrak-Toydemir, Pinar; Hagedorn, Caroline; Brugger, Melanie; Vill, Katharina; Morneau-Jacob, Francois-Dominique; Chung, Wendy; Weaver, Kathryn N; Owens, Joshua W; Husami, Ammar; Chaudhari, Bimal P; Stone, Brandon S; Burns, Katie; Li, Rachel; de Lange, Iris M; Biehler, Margaux; Ginglinger, Emmanuelle; Gérard, Bénédicte; Stottmann, Rolf W; Trimouille, Aurélien

Adolescents' exposure to and evaluation of food promotions on social media: a multi-method approach

青少年在社交媒体上接触和评价食品促销活动:一种多方法研究

van der Bend, D L M; Jakstas, T; van Kleef, E; Shrewsbury, V A; Bucher, T

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

新型诊断性DNA甲基化表观遗传特征扩展并完善了孟德尔遗传病的表观遗传图谱

Levy, Michael A; McConkey, Haley; Kerkhof, Jennifer; Barat-Houari, Mouna; Bargiacchi, Sara; Biamino, Elisa; Bralo, María Palomares; Cappuccio, Gerarda; Ciolfi, Andrea; Clarke, Angus; DuPont, Barbara R; Elting, Mariet W; Faivre, Laurence; Fee, Timothy; Fletcher, Robin S; Cherik, Florian; Foroutan, Aidin; Friez, Michael J; Gervasini, Cristina; Haghshenas, Sadegheh; Hilton, Benjamin A; Jenkins, Zandra; Kaur, Simranpreet; Lewis, Suzanne; Louie, Raymond J; Maitz, Silvia; Milani, Donatella; Morgan, Angela T; Oegema, Renske; Østergaard, Elsebet; Pallares, Nathalie Ruiz; Piccione, Maria; Pizzi, Simone; Plomp, Astrid S; Poulton, Cathryn; Reilly, Jack; Relator, Raissa; Rius, Rocio; Robertson, Stephen; Rooney, Kathleen; Rousseau, Justine; Santen, Gijs W E; Santos-Simarro, Fernando; Schijns, Josephine; Squeo, Gabriella Maria; St John, Miya; Thauvin-Robinet, Christel; Traficante, Giovanna; van der Sluijs, Pleuntje J; Vergano, Samantha A; Vos, Niels; Walden, Kellie K; Azmanov, Dimitar; Balci, Tugce; Banka, Siddharth; Gecz, Jozef; Henneman, Peter; Lee, Jennifer A; Mannens, Marcel M A M; Roscioli, Tony; Siu, Victoria; Amor, David J; Baynam, Gareth; Bend, Eric G; Boycott, Kym; Brunetti-Pierri, Nicola; Campeau, Philippe M; Christodoulou, John; Dyment, David; Esber, Natacha; Fahrner, Jill A; Fleming, Mark D; Genevieve, David; Kerrnohan, Kristin D; McNeill, Alisdair; Menke, Leonie A; Merla, Giuseppe; Prontera, Paolo; Rockman-Greenberg, Cheryl; Schwartz, Charles; Skinner, Steven A; Stevenson, Roger E; Vitobello, Antonio; Tartaglia, Marco; Alders, Marielle; Tedder, Matthew L; Sadikovic, Bekim

CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity

CSNK2B:与广泛的神经发育障碍和癫痫严重程度相关

Ernst, Michelle E; Baugh, Evan H; Thomas, Amanda; Bier, Louise; Lippa, Natalie; Stong, Nicholas; Mulhern, Maureen S; Kushary, Sulagna; Akman, Cigdem I; Heinzen, Erin L; Yeh, Raymond; Bi, Weimin; Hanchard, Neil A; Burrage, Lindsay C; Leduc, Magalie S; Chong, Josephine S C; Bend, Renee; Lyons, Michael J; Lee, Jennifer A; Suwannarat, Pim; Brilstra, Eva; Simon, Marleen; Koopmans, Marije; van Binsbergen, Ellen; Groepper, Daniel; Fleischer, Julie; Nava, Caroline; Keren, Boris; Mignot, Cyril; Mathieu, Sophie; Mancini, Grazia M S; Madan-Khetarpal, Suneeta; Infante, Elena M; Bluvstein, Judith; Seeley, Andrea; Bachman, Kristine; Klee, Eric W; Schultz-Rogers, Laura E; Hasadsri, Linda; Barnett, Sarah; Ellingson, Marissa S; Ferber, Matthew J; Narayanan, Vinodh; Ramsey, Keri; Rauch, Anita; Joset, Pascal; Steindl, Katharina; Sheehan, Theodore; Poduri, Annapurna; Vasquez, Alejandra; Ruivenkamp, Claudia; White, Susan M; Pais, Lynn; Monaghan, Kristin G; Goldstein, David B; Sands, Tristan T; Aggarwal, Vimla