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

Phenotypic expansion of CALM1/2-associated disorders to include neurologic phenotypes without arrhythmia

CALM1/2相关疾病的表型扩展,包括不伴有心律失常的神经系统表型

Hoang, Hieu D; Spillmann, Rebecca C; Wegner, Daniel J; Tedesco, Maria G; Brohus, Malene; Novelli, Antonio; Stregapede, Fabrizia; Rogaia, Daniela; Troiani, Stefania; Lesinski, Jacob; Yuan, Weimin; Fielder, Sara M; Zhang, Bo; Morrison, Stephanie; Regmi, Suk; Foti, Miryam R S; Baldridge, Dustin; Silverman, Gary A; Shea, Patrick; Dickson, Patricia; Wambach, Jennifer A; Overgaard, Michael T; Jensen, Helene H; Olsen, Anders; Prontera, Paolo; Shashi, Vandana; Pak, Stephen C; Schedl, Tim

Subtle cellular phenotypes inform pathological and benign genetic mutants in the Iduronate-2 sulfatase gene

细微的细胞表型可提示艾杜糖醛酸-2硫酸酯酶基因的致病性和良性遗传突变体。

Viswanathan, Anushka; Elia, Serena; Le, Steven Q; Hurt, Sarah; Doray, Balraj; Waligorski, Jason; Kelley, Kylan; Buchser, William; Dickson, Patricia

OmniCellTOSG: The First Cell Text-Omic Signaling Graphs Dataset for Graph Language Foundation Modeling

OmniCellTOSG:首个用于图语言基础建模的细胞文本组学信号图数据集

Zhang, Heming; Xu, Tim; Cao, Dekang; Liang, Shunning; Shergill, Guntaas; Hadas, Nicholas; Schimmelpfennig, Lars; Kaster, Levi; Huang, Di; Li, Guangfu; Goedegebuure, S Peter; DeNardo, David; Ding, Li; Fields, Ryan C; Miller, J Philip; Eghtesady, Pirooz; Cruchaga, Carlos; Buchser, William; Cooper, Jonathan; Sardiello, Marco; Dickson, Patricia; Chen, Yixin; Province, Michael; Payne, Philip; Li, Fuhai

Reduced heparan sulfate levels in cerebrospinal fluid reflect brain neuron correction in Sanfilippo B mice

Sanfilippo B 小鼠脑脊液中硫酸乙酰肝素水平降低反映了脑神经元的修复。

Le, Steven Q; Sorensen, Alexander; Sukupolvi, Soila; Jewhurst, Gianna; Austin, Grant; Doray, Balraj; Cooper, Jonathan D; Dickson, Patricia I

Age-sensitive response of systemic AAV-mediated gene therapy in a newly characterized feline model of mucolipidosis II.

在新鉴定的猫粘脂病 II 型模型中,系统性 AAV 介导的基因治疗的年龄敏感性反应

Pyne Nettie K, Bagel Jessica, Shyng Charles, Odonnell Patricia, Miyadera Keiko, Srnak Jennifer, Swain Gary, Pesayco Jill P, Shelton G Diane, Assenmacher Charles-Antoine, Dickson Patricia, Stern Joshua A, Flanagan-Steet Heather, Gray Steven J, Bradbury Allison M

Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes

全基因组测序揭示了9p染色体综合征的个体和群体层面的信息

Wang, Yingxi; Sams, Eleanor I; Slaugh, Rachel; Crocker, Sandra; Hurtado, Emily Cordova; Tracy, Sophia; Hou, Ying-Chen Claire; Markovic, Christopher; Valle, Kostandin; Tate, Victoria; Belhassan, Khadija; Appelbaum, Elizabeth; Akinwe, Titilope; Starosta, Rodrigo T; Cao, Yang; Neilson, Amber; Liu, Yu; Jensen, Nathaniel; Ghasemi, Reza; Lindsay, Tina; Manuel, Juana; Couteranis, Sophia; Kremitzki, Milinn; Ustanik, Jack; Antonacci, Thomas; Ng, Jeffrey K; Emory, Andrew; Metz, Laura; DeLuca, Tracie; Lyons, Katherine N; Sinnwell, Toni; Thomeczek, Brianne; Wang, Kymme; Sisneros, Nick; Muraleedharan, Megha; Kethireddy, Anantha; Corbo, Marco; Gowda, Harsha; King, Katherine A; Gurnett, Christina A; Dutcher, Susan K; Gooch, Catherine; Li, Yang E; Mitchell, Matthew W; Peterson, Kevin A; Horani, Amjad; Rosenfeld, Jill A; Bi, Weimin; Stankiewicz, Pawel; Chao, Hsiao-Tuan; Posey, Jennifer E; Grochowski, Christopher M; Dardas, Zain; Puffenberger, Erik G; Pearson, Christopher E; Kooy, Frank; Annear, Dale; Innes, A Micheil; Heinz, Michael; Head, Richard; Fulton, Robert; Toutain, Stephan; Antonacci-Fulton, Lucinda; Cui, Xiaoxia; Mitra, Robi D; Cole, F Sessions; Neidich, Julie; Dickson, Patricia I; Milbrandt, Jeffrey; Turner, Tychele N

585 An input-mechanism-outcome model to support integration of community health workers in primary care

585 支持社区卫生工作者融入初级保健的投入-机制-结果模型

Wei, Oren; Lopez, Diana; Lina, Ioan; Boahene, Kofi; Smith, Deborah; Coehoorn, Cory; McLarty, Jerry W; Gomes, Stacey; Crosby, Lori E; Jacquez, Farrah M; Knapke, Jackie; Michell, J; Meinzen-Derr, Jareen; McCormick, Jennifer; Poger, Jennifer M; Singla, Shaweta; Eggleston, Alyson; Kraschnewski, Jennifer L; Deru, Landon; Jakicic, John; Thyfault, John; Garcia, Brisa; Ambrosio, Diana; Moon, Gloria; Rincon, David; Ghalambor, Sabrina; Mai, Madeline; Shaker-Irwin, Laurie; Ingolfsland, Ellen; Rao, Raghavendra; Terai, Kaoru; Bean, Melanie; Farthing, Sarah; Beasley, Morgan; Liu, Ruiling; Rockhill, Sarah; Fu, Lillian; Smith, Kendra C; Butturini, Emma; Santiago-Colón, Albeliz; Shaw, Rachael; Pressley, Kevin; Calvert, Geoffrey M; Smith, Deborah; Smith, Deborah G; Williams, Donna; Elewonibi, Bilikisu “Reni”; Cameron, Jennifer E; McLarty, Jerry; Hagensee, Shreveport Michael E; Kintu, Timothy; Nsubuga, Mike; Bakesiga, Allan; Please, Helen; Stewart, Kelsey; Navarro, Sergio M; Truax, Tara; Piechowski, Patricia; Allen, Polly Gipson; Bailey, Sarah; Stroumsa, Daphna; Zhang, Chen; Deisbach, Caitlin; Chang, Wonkyung; Yu, Yang; Liu, Yu; Ledford, Christy; Spears, Claire S; Wolf, Leslie E; Johnson, J Aaron; McIntyre, Kathleen; Arrowood, Nicholas; Allen, Ashley; Abdirahim, Salma; Zhang, Lusi; Boemer, Lin; Bishop, Jeffrey R; Mroz, Pawel; Steinman, Darby; Petersen, Alyssa; Bolinger, Ethan; Zierden, Hannah C; E, Robert; Wolf, De Sha; McPherson, Joseph; Pomerantz, William; Sneddon, Molly; Shelat, Anang; Lin, Wenwei; Chen, Taosheng; Fischer, Marcus; Tretyakova, Natalia; Figg, John; McCormack, Wayne; Rahman, Maryam; Bova, Frank; Flores, Catherine; Appell, Lauren; Farrar, Jason; van der Plas, Ellen; Prom-Wormley, Elizabeth; Allen, Victoria; Bridgwater, Caleb J; Lo, Chao-Yi; Menjivar, Lubidia E; Patel, Aarushi; Vaughn, Cate; Wright, Sunday; Yonashiro-Cho, Jeanine; Gassoumis, Zach; Mosqueda, Laura; Chang-Gu, Bruce; David Lopez, Veneros; Ensari Ipek, Hasso; Sharma, Yashika; Jackman, Kasey; Caceres, Billy A; Bales, Michael; Wood, EA; A, Sigaras; Sholle, E Campion; Jr, TR; Imperato-McGinley, J; Cabezas, Jennifer; Touré, Savanna; Stallings-Mann, Melody; Pacheco-Spann, Laura; Ogony, Joshua; Sherman, Mark; Austin, Jessica; Radisky, Derek; Vélez, Javier Jurado; Kaur, Navneet; Baidwan; Mehta, Tapan; Wijesooriya, Julie; Butsch, Melinda; Kovacic; Harper, Becca; Kelly, Maureen; Baltazar, Bruno; McDeed, Arthur; Jain, Siddarth; Alley, Amber; Sun, Harry; McNamara, Megan; Ahn, Jaeil; Wellstein, Anton; Kim, Grace; Kim, Grace J; Brito, Nayane; Chu, San; Horswell, Ronald; Vince, Nicolas; Miele, Lucio; Mehta, Rittal; Venna, Alyssia; Reitz, Justus G; Klein, Jennifer; Haverty, Mitchell; Schlumpf, Karen; d’Udekem, Yves; Harrison, Kenneth; Peoples, Brandon M; Santamaria-Guzman, Keven G; Redden, David; Roper, Jaimie A; Berry, Michelle; Rajendran, Kavya; Risco, Cristina; Norwood, Earta; Bernat, Edward; De, Sudeshna; Foucher, Kharma; Johnson, Valerie; Ashammakhi, Nureddin; Mahmoudi, Morteza; Ingbar, David; Larson, Megan; Lamere, Michelle; Thomas, Stefani; Haynes, David II; Sherwood, Nancy; Nunez, Ana; Yuce, Tarik; AbuHasan, Qais; Kpormegbey, Daniel E; Funk, Luke M; Allison, David B; Holl, Jane L; Stefanidis, Dimitrios; Sparks-Thissen, Rebecca; Chlebowski, Arthur L; Garcia, Kara E; McKay, Athena; Woolford, Susan J; Arbor, Ann; Piechowski, Patricia; Allen, Polly Gipson; Vereen, Donald; Devore, Micah; Iles, Ashley N; Schoeder, Lily A; Music, Megan B; Patel, Bansi V; Marksbury, Ashlee R; Wooten, Mason M; Woodcox, Andrea M; Beckner, Zachary; Macon, Erica L; Fisher, Simon J; Lane, Aric; Whipple, Mark; Sprenger, Cynthia; Martinson, Holly; Lin, Michael; Wick, Joseph; Weis, Jennifer; Shea, Melinda; Park, Myung; Fan, Jungwei; Tuseth, Holly; Terteryan, Araksi; Pire-Smerkanich, Nancy; Chang, Wonkyung; Zhang, Chen; Liu, Yu; Gunawan, Claudia; Blackman, Marc R; Adler, Priscilla; Pascalev, Assya; Otado, Jane; Libin, Alexander; Nekoonam, Rojina; Bandari, Aravind K; Deivendran, Delahny; Tandukar, Bishal; Sharma, Harsh; Hunter Shain, Alan; Attebury, Holly; Arbor, Ann; Awad, Dominik; Donahue, Katelyn; Elhossiny, Ahmed; Frankel, Tim; Schmidt, Tom; Lyssiotis, Costas; di Magliano, Marina Pasca; Daley, Donnele; Croisant, Sharon; Bohn, Krista; Pennel, Cara; Tumilty, Emma; Hallmark, Claire; Tobon, Paula; Rodriguez, Natalia; Balian, Lara; Higgins, Abigail; Ziolkowski, Rebecca; Smith, Kalesia; Hawryluk, Bridget; Kiser, Andrea; Wiehe, Sarah; Borrego, Marissa; Nasirova, Nailyam; O’Neal, Timothy; Murphy, Zackari; Habiba, Umme; Ferguson, Susan; Lawler, Destiny; Copeland, Robert L; Martin, MaryBeth; Nash, Katherine; Maclay, Lindsey; Weiss, Linda; Woo, Jennifer; Baidal; Sperling, Anne; Meyer, Dodi; Shelton, Rachel C; Suttiratana, Sakinah; Bardach, Naomi; Ambati, Vardhaan; Aabedi, Alexander; Sibih, Youssef; Herr, Sanjeev; Oten, Sena; Yamada, Hunter; Kaur, Jasleen; Brang, David; Hervey-Jumper, Shawn; Santucci, Nicole; Martin, Colin A; Killough, Cynthia; Sanchez, Maria; Phillips, Christina; Page, Kimberly; Page-Reeves, Janet; de la Rosa, Medicine Ivan; Alice, Mary; Scott; Gorvetzian, Andrew; Allbright, Joseph; Benally, Randall; Cranfill, Jessica; Deeter, Christine E; Hannah, Deborah; Snyder, Denise C; Freel, Stephanie A; Kaiser, Rebecca E; Sadr, Farshad; Yuen, Trevor; Krenz, Till; Chin-Chin, Lee; Dominguez Sheela, C; Ransford, Daru LL; Kobetz, Erin; Watson, Kelly; Low, Brandon; Snow, Abigail LB; Taylor, Isabelle; Isaacs, David A; Sors, Thomas; Driscol, Julie; Kirkham, Perry M; Ybe, Joel; DeFord, Melanie E; Felter, Brian; Rodday, Angie Mae; Parsons, Susan K; Candelaria, Bárbara Riestra; Pimentel, Tatiana; Arriaga, Ricardo; Arrocha, Marco; Jimenez, Gabriel; Pizarro, Manuel; Castillo, Angenid; Vélez, María L; Mojica, Wilma Rodriguez; Charchalac-Zapeta, Celeste; Thompson, Caesar; Hebert-Beirne, Jeni; Brown, Catherine; Helm, Shirley LT; Ojeda, Amanda; Tamura, Ariana; Fernando, Luiz; Roesch, Wurdig; Sumerlin, Brent; Smith, Mollee Steely; Cucciare, Michael; Zielinski, Melissa; Edge, Nicola; Gelfond, Jonathan; Zozus, Meredith; Goros, Martin; Potter, Jennifer; Summers, Kimberly K; Schmidt, Susanne; Rowan, Stephanie; Aubree Shay, Laura; Zuiker, Eryn; De, Mithu; Serpa, Gregory; Long, Matthew E; Hawryluk, Bridget A; McCaskill, Tammie L; Silverman, Ross; Lynch, Dustin O; Wiehe, Sarah; Rosen, Brittany; Tharrington, J; Kas-Osoka, Chioma; Chambers, Mariah; Miller, Stephania T; Murry, Velma; Erves, Jennifer; Johns, Anna; Knapke, Jackie; Ryan, Patrick; Mendell, Angela; Kingsley, Erin; Buccigross, Sarah; Phillips, Katie; Kues, Jack; Wakefield, Devin; Gomaa, Dina; Hildreth, Laura; Veevers, Jen; Meisman, Andrea; Butcher, Kalen; Marcum, Michelle; Kurtzweil, Nicky; Harris, Nathaniel; Blackard, Jason; Francis-Shearer, Antonette; Singleton, Amber; McCants, Karla; M, Danette; Jolly; Cheyenne, Maggie; Garland; Bolanos, Katherine; Luke, Clinic; Mueller; I, Martha; Arrieta; Whiddon, Frederick; Williams, Ashley; Puente Proaño, D; Ferenbok, Joseph; Marcon, Edyta; Kabli, Noufissa; Clarke, Hance; Woods, Nicole; Ross, Ruth; Nguyen, Alana; Gazaryan, Lauritta; De Jesus, A Cassandra; Lutfi, Areeb; Lee, Jonathan; Gandarilla-Cuellar, Omar; Medina, Manuel Hidalgo; Doorodian, Paymon; Nagarajan, Arvin; Burtness, Barbara; Kupfer, Gary; Stahl, Emily; Prosser-Dombrowski, Alexandra; Perry, John; Pushel, Irina; Nemechek, Jacqelyn; Vivian, Jay; Prem Kumar, Priyanka; Seidel, Chris; Miller, Danny; Galloway, Taylor; Konzen, Karen; Sener, Ugur; Shanmugam, Chitra; Gutowski, Julie; Breutzman, Emily; Raske, Robert; Gundelach, Justin; Kottschade, Rebecca; Haddad, Tufia; Do-Golden, Brian; Wolfe, Nicole; Maccalla, Nicole MG; Kipke, Michele D; Hau, Julie; Holmes, Jada; Karcz, Krystina; McDaniels, Melissa; Meda, Rohan; Fu, Yi-Ping; Kong, Hyesik; Jang, Moon Kyoo; Andargie, Temesgen; Park, Woojin; Lee, Jae; Tunc, Ilker; Berry, Gerald J; Marboe, Charles C; Shah, Pali D; Nathan, Steven D; Keller, Michael B; Agbor-Enoh, Sean; Tran, Douglas; Vandenberge, John; Kim, Nancy; Wu, Zhongjun; Griffith, Bartley; Mitchell, Toy; Brown, Alison; Lloyd, Jacqueline; Acevedo, Amanda; Momin, Behnoosh; Barksdale, Crystal; Marshall, Vanessa; Cavanaugh, Alicia; Amolegbe, Sara; Schlotman, Kristen; Whitaker, Miya; Stinson, Nathaniel; Blachman-Demner, Dara; Jones, Patricia; Fernandez, Angela; Lawhorn, Collene; Madden, Ebony; Smarr, Melissa; Shero, Susan; Sperling, Jessica; Quenstedt, Stella; Muhigaba, Perusi; McClernon, F Joseph; Glauber, Kristine; Ghanem, Eman; Saxena, Tarun; Rodriguez, Vonda; Kandpal, Manoj; Hur, Hong; Thomas, Caitlyn; Thomas, Caitlyn A; Kim, Choon; El-Araby, Amr M; Birhanu, Biruk T; Mobashery, Shahriar; Chang, Mayland; Benn, Emma; Hutson, Yvette; Tomalin, Lewis; Porras, Christian; Enders, Felicity; Golbeck, Amanda L; Heyliger, Simone; Lawrence; Zhong, Xiaoxuan; Ozbek, Umut; Salah, Sawsan; Francis, Lori A; Herpin, Lancelot; Kohanski; Bosso; Adappa; Palmer; Cohen; Colon, Elsa M; Revilla-Orellano, Radamés; Bonilla-Díaz, Wency; Mejías-Castro, Jesús; Agawu, Atu; Carmen, Rachel; Ceasar; A, Mark; Frey; Kelley-Quon, Lorraine; Caples, Karly; Mariani, Vinicius; Barton, Elisabeth; Malany, Siobhan; Mas, Manuel; Wojna, Valerie; Díaz, Bexaida; Pérez; Bartolomei-Traviza, Tanlix; Lester, Rosario-Rodriguez; Cantres-Rosario, Yisel M; Mackiewicz, Marissa; Meltzer, David; Thompson, Katherine; Laiteerapong, Neda; Samuels, lias; Williams, Veronic; Chamagne, Ellen; Liebrecht, Celeste; Piatt, Gretchen; Donnally, John; Kilbourne, Amy; Mwenesi, Rama; LaPensee, Elizabeth; Brudzinski, Maureen; Rolland, Bety; Lee, Jeremiah; Church, Terry; Manrique, Karen; Pacifici, Eunjoo; Lamere, Michelle; Wilson, Mya; Fulkerson, Jayne A; Elis, Seth; Ingbar, David; Aslaner, David; Baer, Brandon; Meegan, Jamie E; Ware, Lorraine B; Bastarache, Julie A; Heneghan, Julia; Marsh, Elizabeth; Ma, Sisi; Goldfarb, Samuel; Crow, Scott; Steiner, Marie; Millay, Tamara; Cottler, Linda B; McKenzie, Jenny; Hartz, Sarah; Gurnett, Chris; Baldridge, Dustin; Bowling, Kevin; Granadillo De, Jorge Luis; Mozersky, Jessica; Bierut, Laura; Dickson, Patricia; Jee, David; Lee, Seungjae; Yang, Dapeng; Rickert, Robert; Shang, Renfu; Huangfu, Danwei; Lai, Eric C; Rende, Lacey; Truong, Tracy; Yang, Lexie Zidanyue; Pomann, Gina-Maria; Cranfill, Jessica; Freel, Stephanie A; Deeter, Christine E; Snyder, Denise C; Naggie, Susanna; Barrett, Nadine; Roberts, Jamie N; Yoo, Jin-Hong; Shaker-Irwin, Laurie; Anne, Noah Federman; Skinner; Molano, Jennifer; Hildreth, Laura; Johns, Anna; J Kopras, Elizabeth; Mendell, Angela; Lee, Rebecca C; Gomes, Stacey; Johnstone, Megan; Knapke, Jackie; Kues, Jack; Blackard, Jason T; Carpenter, Christopher; P, Kayla; Hawley, Nanci C; Juhn, Young J; Ridgeway, Jennifer L; Spiten, Matthew J; Weiss, Jenny A; Kremers, Hilal Maradit; Makii, Rebecca; Ned, Téa; Underdown, M Jane; Palmer, Eric; Wilky, Breelyn A; Regan, Daniel P; Anwar, Abid; Jerez Ortega, Sofia; Kalaiger, Maleeha; Friesland, Kaitlin; Young, Jordan; Tuerlinckx, Amaury E; Yaqoob, Usman; Huebert, Robert C; Jalan-Sakrikar, Nidhi; Manavi, Zeeba; Rosko, Lauren; Melchor, George; Baydyuk, Maryna; Huang, Jeffrey; Whitehurst, Lauren; Ngo, Tina; Brown, Christopher; Kelly, Thomas; King, Victoria; Elam, Carol; McGuire, Patricia; Gupta, Samir; Blackr, Alexandria; Lotrecchiano, Gaetano; Juarez, Maria; Reyes; Shope, Ronald; Aboelata, Noha; King, Lavette; Wells, Brianna

GABAergic interneurons contribute to the fatal seizure phenotype of CLN2 disease mice

GABA能中间神经元与CLN2疾病小鼠的致命性癫痫表型有关。

Takahashi, Keigo; Rensing, Nicholas R; Eultgen, Elizabeth M; Williams, Letitia L; Wang, Sophie H; Nelvagal, Hemanth R; Le, Steven Q; Roberts, Marie S; Doray, Balraj; Han, Edward B; Dickson, Patricia I; Wong, Michael; Sands, Mark S; Cooper, Jonathan D

Antibodies to recombinant human alpha-L-iduronidase prevent disease correction in cortical bone in MPS I mice

针对重组人α-L-艾杜糖醛酸酶的抗体可阻止MPS I小鼠皮质骨的疾病纠正

Hurt, Sarah C; Le, Steven Q; Kan, Shih-Hsin; Bui, Quang D; Brodt, Michael D; Dickson, Patricia I

Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.

与 SLC17A5 组织特异性嵌合相关的非典型游离唾液酸贮积症

Shinawi Marwan, Wegner Daniel J, Paul Alexander J, Buchser William, Schmidt Robert, Sharma Jaiprakash, Sardiello Marco, Sisco Kathleen, Manwaring Linda, Reynolds Margaret, Fulton Robert, Fronick Catrina, Shaver Andrew, Huang Tina Y, Carroll Ashley, Roessler Kyria, Halpern Aaron L, Dickson Patricia I, Wambach Jennifer A