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

The Developmental Landscape of Children With Uveal Coloboma and Its Relationship With Clinical Phenotype and Genetics

葡萄膜缺损患儿的发育概况及其与临床表型和遗传学的关系

Brooks, Brian P; Hehn, Alexandra T; Blain, Delphine; Farmer, Cristan; Joseph, Lisa A; Wiggs, Edythe; Segalà, Laura; Guan, Bin; Thurm, Audrey; Pathapadu, Ananya S

Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder

游离唾液酸贮积症的临床和遗传特征

Wolfenson, Zoe; Grois, Gabriella; Hailemeskel, Ruth F; Sabaii, Marla; Huryn, Laryssa A; Zein, Wadih M; Lehky, Tanya; Thurm, Audrey; Joseph, Lisa; Baker, Eva H; Vezina, Gilbert; Hyland, Keith; Pollard, Laura; Macnamara, Ellen; Gropman, Andrea; Malicdan, May C; Gahl, William A; Adams, David R; Wolfe, Lynne

Convergent Validity of the Fine Motor, Speech, and Cognitive Domains of the 5-Domain Niemann-Pick Disease Type C Clinical Severity Scale

尼曼-匹克病C型临床严重程度五领域量表精细运动、言语和认知领域的聚合效度

Farmer, Cristan; Lewis, Monica; Farhat, Nicole; Robbins, Kendall P; Joseph, Lisa; Albert, Orsolya K; Bianconi, Simona; Hoffmann, Anne; Giserman-Kiss, Ivy; Alexander, Derek M; Thurm, Audrey; Porter, Forbes D; Kravis, Elizabeth Berry

In-depth profile analysis and developmental trends in Wechsler performance among individuals with Williams syndrome

对威廉姆斯综合征患者韦氏智力测验表现的深入分析及发展趋势

Farmer, Cristan; Klein-Tasman, Bonita P; Chun, Ashley; Giserman-Kiss, Ivy; Joseph, Lisa; Chlebowski, Colby; Kozel, Beth A; Thurm, Audrey E

AAV9 Gene Therapy in GM1 Gangliosidosis Type II: A Phase 1/2 Trial

AAV9基因疗法治疗GM1神经节苷脂沉积症II型:一项1/2期临床试验

Lewis, Connor J; D'Souza, Precilla; Johnston, Jean M; Acosta, Maria T; Farmer, Cristan; Baker, Eva H; Crowell, Anna; Mojica, Yoliann; Rahman, Sumaiya; Joseph, Lisa; Hartman, Adam; Vézina, Gilbert; Quezado, Zenaide; Yousef, Muhammad H; Luckett, Amelia; Vardar, Zeynep; Shazeeb, Mohammad Salman; Corti, Manuela; Blackwood, Meghan; Coleman, Kirsten; Thurm, Audrey; De Boever, Erika; Gahl, William A; Byrne, Barry J; Flotte, Terence R; Jiang, Xuntian; Gross, Amanda L; Keeler, Allison M; Gray-Edwards, Heather; Martin, Douglas R; Sena-Esteves, Miguel; Tifft, Cynthia J

Proteasome mutations associated with CANDLE syndrome cause altered neuronal development by dysregulating polyamine synthesis.

与 CANDLE 综合征相关的蛋白酶体突变通过扰乱多胺合成导致神经元发育异常

Winkler Clayton W, Schwarz Benjamin, Williams Katie, Alehashemi Sara, Foliaki Simote T, Snow Joseph, Joseph Lisa, Thurm Audrey, Friend Christopher, Cooper Gwendolyn, Bohrnsen Eric, Bhuyan Farzana, Brandes Nathan T, Moaddel Ruin, Boehm Manfred, Chen Guibin, Kimzey Cole D, Bielekova Bibiana, Kocot Joanna, Kosa Peter, Haigh Cathryn L, Goldbach-Mansky Raphaela, Peterson Karin E

The Human Phenotype Ontology in 2024: phenotypes around the world

2024 年人类表型本体论:世界各地的表型

Gargano, Michael A; Matentzoglu, Nicolas; Coleman, Ben; Addo-Lartey, Eunice B; Anagnostopoulos, Anna V; Anderton, Joel; Avillach, Paul; Bagley, Anita M; Bakštein, Eduard; Balhoff, James P; Baynam, Gareth; Bello, Susan M; Berk, Michael; Bertram, Holli; Bishop, Somer; Blau, Hannah; Bodenstein, David F; Botas, Pablo; Boztug, Kaan; Čady, Jolana; Callahan, Tiffany J; Cameron, Rhiannon; Carbon, Seth J; Castellanos, Francisco; Caufield, J Harry; Chan, Lauren E; Chute, Christopher G; Cruz-Rojo, Jaime; Dahan-Oliel, Noémi; Davids, Jon R; de Dieuleveult, Maud; de Souza, Vinicius; de Vries, Bert B A; de Vries, Esther; DePaulo, J Raymond; Derfalvi, Beata; Dhombres, Ferdinand; Diaz-Byrd, Claudia; Dingemans, Alexander J M; Donadille, Bruno; Duyzend, Michael; Elfeky, Reem; Essaid, Shahim; Fabrizzi, Carolina; Fico, Giovanna; Firth, Helen V; Freudenberg-Hua, Yun; Fullerton, Janice M; Gabriel, Davera L; Gilmour, Kimberly; Giordano, Jessica; Goes, Fernando S; Moses, Rachel Gore; Green, Ian; Griese, Matthias; Groza, Tudor; Gu, Weihong; Guthrie, Julia; Gyori, Benjamin; Hamosh, Ada; Hanauer, Marc; Hanušová, Kateřina; He, Yongqun Oliver; Hegde, Harshad; Helbig, Ingo; Holasová, Kateřina; Hoyt, Charles Tapley; Huang, Shangzhi; Hurwitz, Eric; Jacobsen, Julius O B; Jiang, Xiaofeng; Joseph, Lisa; Keramatian, Kamyar; King, Bryan; Knoflach, Katrin; Koolen, David A; Kraus, Megan L; Kroll, Carlo; Kusters, Maaike; Ladewig, Markus S; Lagorce, David; Lai, Meng-Chuan; Lapunzina, Pablo; Laraway, Bryan; Lewis-Smith, David; Li, Xiarong; Lucano, Caterina; Majd, Marzieh; Marazita, Mary L; Martinez-Glez, Victor; McHenry, Toby H; McInnis, Melvin G; McMurry, Julie A; Mihulová, Michaela; Millett, Caitlin E; Mitchell, Philip B; Moslerová, Veronika; Narutomi, Kenji; Nematollahi, Shahrzad; Nevado, Julian; Nierenberg, Andrew A; Čajbiková, Nikola Novák; Nurnberger, John I Jr; Ogishima, Soichi; Olson, Daniel; Ortiz, Abigail; Pachajoa, Harry; Perez de Nanclares, Guiomar; Peters, Amy; Putman, Tim; Rapp, Christina K; Rath, Ana; Reese, Justin; Rekerle, Lauren; Roberts, Angharad M; Roy, Suzy; Sanders, Stephan J; Schuetz, Catharina; Schulte, Eva C; Schulze, Thomas G; Schwarz, Martin; Scott, Katie; Seelow, Dominik; Seitz, Berthold; Shen, Yiping; Similuk, Morgan N; Simon, Eric S; Singh, Balwinder; Smedley, Damian; Smith, Cynthia L; Smolinsky, Jake T; Sperry, Sarah; Stafford, Elizabeth; Stefancsik, Ray; Steinhaus, Robin; Strawbridge, Rebecca; Sundaramurthi, Jagadish Chandrabose; Talapova, Polina; Tenorio Castano, Jair A; Tesner, Pavel; Thomas, Rhys H; Thurm, Audrey; Turnovec, Marek; van Gijn, Marielle E; Vasilevsky, Nicole A; Vlčková, Markéta; Walden, Anita; Wang, Kai; Wapner, Ron; Ware, James S; Wiafe, Addo A; Wiafe, Samuel A; Wiggins, Lisa D; Williams, Andrew E; Wu, Chen; Wyrwoll, Margot J; Xiong, Hui; Yalin, Nefize; Yamamoto, Yasunori; Yatham, Lakshmi N; Yocum, Anastasia K; Young, Allan H; Yüksel, Zafer; Zandi, Peter P; Zankl, Andreas; Zarante, Ignacio; Zvolský, Miroslav; Toro, Sabrina; Carmody, Leigh C; Harris, Nomi L; Munoz-Torres, Monica C; Danis, Daniel; Mungall, Christopher J; Köhler, Sebastian; Haendel, Melissa A; Robinson, Peter N

Deep phenotypic analysis of psychiatric features in genetically defined cohorts: application to XYY syndrome

对基因明确定义的人群进行精神特征的深度表型分析:以XYY综合征为例

Raznahan, Armin; Rau, Srishti; Schaffer, Luke; Liu, Siyuan; Fish, Ari M; Mankiw, Catherine; Xenophontos, Anastasia; Clasen, Liv S; Joseph, Lisa; Thurm, Audrey; Blumenthal, Jonathan D; Bassett, Dani S; Torres, Erin N

Effects of full-fat high-oleic soybean meal in layer diets on nutrient digestibility and egg quality parameters of a white laying hen strain

全脂高油酸豆粕对蛋鸡日粮营养物质消化率和蛋品质的影响

Pramir Maharjan, Amin Rahimi, Kari L Harding, Thien Chuong Vu, Ramon Malheiros, Edgar O Oviedo-Rondon, Rouf Mian, Michael Joseph, Lisa Dean, Kenneth E Anderson, Ondulla Toomer

Cytidine 5'-Diphosphocholine Corrects Alveolar Type II Cell Mitochondrial Dysfunction in Influenza-infected Mice

胞苷5'-二磷酸胆碱可纠正流感病毒感染小鼠的肺泡II型细胞线粒体功能障碍

Doolittle, Lauren M; Binzel, Katherine; Nolan, Katherine E; Craig, Kelsey; Rosas, Lucia E; Bernier, Matthew C; Joseph, Lisa M; Woods, Parker S; Knopp, Michael V; Davis, Ian C