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

Racial and socioeconomic disparities in genetic evaluation and testing in the adult patient population

成人患者群体中基因评估和检测的种族和社会经济差异

Gold, Jessica I; Elkaim, Yehuda; Gold, Nina B; Asher, Stephanie; Raper, Anna; Condit, Courtney; Bogus, Zoe; Elysee, Isaac; Hennessy, Laura; Kennedy, Emma; Briere, Lauren C; Sweetser, David A; Kripke, Colleen; Verma, Anurag; Salmasian, Hojjat; Landry, Latrice; Nathanson, Katherine L; Kallish, Staci; Drivas, Theodore G

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

The Three-Gene Xpert Host Response Signature for Pediatric Tuberculosis Screening: A Prospective Diagnostic Accuracy Study

用于儿童结核病筛查的三基因Xpert宿主反应特征:一项前瞻性诊断准确性研究

Poore, Hayley; Wambi, Peter; Nkereuwem, Esin; Nakafeero, Jascent; Gomez, Marie P; Nsereko, Moses; Sweetser, Brittney; Andama, Alfred; Wobudeya, Eric; Ernst, Joel D; Cattamanchi, Adithya; Jaganath, Devan; Kampmann, Beate

Realizing the therapeutic potential of rapid knockdown of transthyretin via RNA interference in transthyretin amyloidosis

认识到通过RNA干扰快速敲低转甲状腺素蛋白在转甲状腺素淀粉样变性中的治疗潜力

Grogan, Martha; Sheikh, Farooq H; Sperry, Brett W; Sweetser, Marianne T; Capocelli, Kelley; Roblin, Steven; Witteles, Ronald

A Prospective Evaluation of a Three-Gene Host Response Signature to Classify Tuberculosis Severity in Children

前瞻性评估三基因宿主反应特征在儿童结核病严重程度分级中的应用

Sweetser, Brittney; Nkereuwem, Esin; Nakafeero, Jascent; Gomez, Marie; Wambi, Peter; Nsereko, Moses; Andama, Alfred; Ernst, Joel D; Cattamanchi, Adithya; Kampmann, Beate; Jaganath, Devan; Wobudeya, Eric

Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency Presenting as Hyperammonemia and Encephalopathy: Case Series

迟发性多酰基辅酶A脱氢酶缺乏症表现为高氨血症和脑病:病例系列

Viguera Altolaguirre, Cristina; Stergachis, Andrew B; Sweetser, David A; Gold, Nina B

Vutrisiran in Transthyretin Amyloidosis: A Pooled Safety Analysis of HELIOS-A and HELIOS-B

Vutrisiran治疗转甲状腺素蛋白淀粉样变性:HELIOS-A和HELIOS-B的汇总安全性分析

Witteles, Ronald M; Garcia-Pavia, Pablo; Morbach, Caroline; Gillmore, Julian D; Taylor, Mark S; Conceição, Isabel; White, William B; Kwok, Cynthia; Sweetser, Marianne T; Boyle, Katherine L; Adams, David

De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features

FRYL基因的新生突变与发育迟缓、智力障碍和面部畸形有关。

Pan, Xueyang; Tao, Alice M; Lu, Shenzhao; Ma, Mengqi; Hannan, Shabab B; Slaugh, Rachel; Drewes Williams, Sarah; O'Grady, Lauren; Kanca, Oguz; Person, Richard; Carter, Melissa T; Platzer, Konrad; Schnabel, Franziska; Abou Jamra, Rami; Roberts, Amy E; Newburger, Jane W; Revah-Politi, Anya; Granadillo, Jorge L; Stegmann, Alexander P A; Sinnema, Margje; Accogli, Andrea; Salpietro, Vincenzo; Capra, Valeria; Ghaloul-Gonzalez, Lina; Brueckner, Martina; Simon, Marleen E H; Sweetser, David A; Glinton, Kevin E; Kirk, Susan E; Wangler, Michael F; Yamamoto, Shinya; Chung, Wendy K; Bellen, Hugo J

Effectiveness of patisiran after switching from tafamidis for the treatment of hereditary transthyretin-mediated amyloidosis with polyneuropathy

在治疗遗传性转甲状腺素蛋白介导的淀粉样变性伴多发性神经病时,从他法米地换用帕替西兰的疗效

Labeyrie, Celine; Merkel, Madeline; Sethi, Sakshi; Popadic, Lyuba; Yang, Hongbo; Sweetser, Marianne T; Lin, Hollis; Adams, David

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants

TCF4变异引起的Pitt-Hopkins综合征的DNA甲基化表观特征和比较表观基因组分析

van der Laan, Liselot; Lauffer, Peter; Rooney, Kathleen; Silva, Ananília; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A; Trajkova, Slavica; Huisman, Sylvia A; Bijlsma, Emilia K; Kleefstra, Tjitske; van Bon, Bregje W; Baysal, Özlem; Zweier, Christiane; Palomares-Bralo, María; Fischer, Jan; Szakszon, Katalin; Faivre, Laurence; Piton, Amélie; Mesman, Simone; Hochstenbach, Ron; Elting, Mariet W; van Hagen, Johanna M; Plomp, Astrid S; Mannens, Marcel M A M; Alders, Mariëlle; van Haelst, Mieke M; Ferrero, Giovanni B; Brusco, Alfredo; Henneman, Peter; Sweetser, David A; Sadikovic, Bekim; Vitobello, Antonio; Menke, Leonie A