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

Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity for the molecular diagnosis of Mendelian disorders in nearly 10,000 exomes and genomes

Multiscore 是一款由人工智能和真实世界临床数据驱动的基因排序工具,在近 10,000 个外显子组和基因组中显示出对孟德尔遗传病分子诊断的高灵敏度。

Ustach, Vincent D; Guillen Sacoto, Maria J; McGee, Stephen; Gainullin, Vladimir G; Arvai, Kevin; Begtrup, Amber; Facio, Flavia M; Greenberg, Matthew; Guðbjartsson, Hákon; McWalter, Kirsty; Millán, Francisca; Monaghan, Kristin; Retterer, Kyle; Richard, Gabriele; Topaz, Nadav; Torene, Rebecca; Johnson, Britt; Laurent, Timothy

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions

利用基因组测序扩大新生儿筛查范围,以便及早发现可干预的疾病

Ziegler, Alban; Koval-Burt, Carrie; Kay, Denise M; Suchy, Sharon F; Begtrup, Amber; Langley, Katherine G; Hernan, Rebecca; Amendola, Laura M; Boyd, Brenna M; Bradley, Jennifer; Brandt, Tracy; Cohen, Lilian L; Coffey, Alison J; Devaney, Joseph M; Dygulska, Beata; Friedman, Bethany; Fuleihan, Ramsay L; Gyimah, Awura; Hahn, Sihoun; Hofherr, Sean; Hruska, Kathleen S; Hu, Zhanzhi; Jeanne, Médéric; Jin, Guanjun; Johnson, D Aaron; Kavus, Haluk; Leibel, Rudolph L; Lobritto, Steven J; McGee, Stephen; Milner, Joshua D; McWalter, Kirsty; Monaghan, Kristin G; Orange, Jordan S; Pimentel Soler, Nicole; Quevedo, Yeyson; Ratner, Samantha; Retterer, Kyle; Shah, Ankur; Shapiro, Natasha; Sicko, Robert J; Silver, Eric S; Strom, Samuel; Torene, Rebecca I; Williams, Olatundun; Ustach, Vincent D; Wynn, Julia; Taft, Ryan J; Kruszka, Paul; Caggana, Michele; Chung, Wendy K

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

研究蛋白酶体ATPase亚基基因PSMC5在神经发育性蛋白酶体病中的神经元作用

Küry, Sébastien; Stanton, Janelle E; van Woerden, Geeske M; Bosc-Rosati, Amélie; Hsieh, Tzung-Chien; Bray, Lise; Oloudé, Marielle; Rosenfelt, Cory; Scott-Boyer, Marie Pier; Most, Victoria; Wang, Tianyun; Papendorf, Jonas J; de Konink, Charlotte; Deb, Wallid; Vignard, Virginie; Studencka-Turski, Maja; Besnard, Thomas; Hajdukowicz, Anna M; Thiel, Franziska G; Wolfgramm, Sophie; Florenceau, Laëtitia; Cuinat, Silvestre; Marsac, Sylvain; Verrès, Yann; Dangoumau, Audrey; Poirier, Léa; Wentzensen, Ingrid M; Tuttle, Annabelle; Forster, Cara; Striesow, Johanna; Golnik, Richard; Ortiz, Damara; Jenkins, Laura; Rosenfeld, Jill A; Ziegler, Alban; Houdayer, Clara; Bonneau, Dominique; Torti, Erin; Begtrup, Amber; Monaghan, Kristin G; Mullegama, Sureni V; Volker-Touw, Catharina M L Nienke; van Gassen, Koen L I; Oegema, Renske; de Pagter, Mirjam S; Steindl, Katharina; Rauch, Anita; Ivanovski, Ivan; McDonald, Kimberly; Boothe, Emily; Dauber, Andrew; Baker, Janice; Fabie, Noelle Andrea V; Bernier, Raphael A; Turner, Tychele N; Srivastava, Siddharth; Dies, Kira A; Swanson, Lindsay C; Costin, Carrie; Abdulrazak, Alali; Jobling, Rebekah K; Pappas, John; Rabin, Rachel; Niyazov, Dmitriy; Chun-Hui Tsai, Anne; Kovak, Karen; Beck, David B; Malicdan, May Christine V; Adams, David R; Wolfe, Lynne; Ganetzky, Rebecca D; Muraresku, Colleen C; Babikyan, Davit; Sedláček, Zdeněk; Hančárová, Miroslava; Timberlake, Andrew T; Saif, Hind Al; Nestler, Berkley; King, Kayla; Hajianpour, M J; Costain, Gregory; Prendergast, D'Arcy; Li, Chumei; Geneviève, David; Vitobello, Antonio; Sorlin, Arthur; Philippe, Christophe; Harel, Tamar; Toker, Ori; Sabir, Ataf; Lim, Derek; Hamilton, Mark J; Bryson, Lisa J; Cleary, Elaine; Weber, Sacha; Hoffman, Trevor L; Cueto-González, Anna M; Tizzano, Eduardo F; Gómez-Andrés, David; Codina-Solà, Marta; Ververi, Athina; Pavlidou, Efterpi; Lambropoulos, Alexandros; Garganis, Kyriakos; Rio, Marlène; Levy, Jonathan; Langas, Sarah J; McRae, Anne M; Lessard, Mathieu K; D'Agostino, Maria Daniela; De Bie, Isabelle; Wegler, Meret; Abou Jamra, Rami; Kamphausen, Susanne B; Bothe, Viktoria; Potocki, Lorraine; Olinger, Eric; Sznajer, Yves; Wiame, Elsa; Thompson, Michelle L; Schroeder, Molly C; Gooch, Catherine; Smith, Raphael A; Pandya, Arti; Busch, Larissa M; Völker, Uwe; Hammer, Elke; Wende, Kristian; Cogné, Benjamin; Isidor, Bertrand; Meiler, Jens; Ripoll, Clémentine; Bigou, Stéphanie; Laumonnier, Frédéric; Hildebrand, Peter W; Eichler, Evan E; McWalter, Kirsty; Krawitz, Peter M; Roux-Dalvai, Florence; Elgersma, Ype; Marcoux, Julien; Bousquet, Marie-Pierre; Droit, Arnaud; Poschmann, Jeremie; Grabrucker, Andreas M; Bolduc, Francois V; Bézieau, Stéphane; Ebstein, Frédéric; Krüger, Elke

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

Germline de novo alterations of RUNX1T1 in individuals with neurodevelopmental and congenital anomalies

神经发育和先天性异常患者中RUNX1T1基因的种系新生突变

Aref-Eshghi, Erfan; Anderson, Katherine J; Boulay, Lauren; Brown, Kathleen; Duis, Jessica; Giummo, Christine A; Ogawa, Jessica; Carere, Deanna Alexis; Normand, Elizabeth A; Qian, Yaping; McWalter, Kirsty; Torti, Erin

MGA-related syndrome: A proposed novel disorder

MGA相关综合征:一种新提出的疾病

McGivern, Bobbi; Morrow, Michelle M; Torti, Erin; McWalter, Kirsty; Wentzensen, Ingrid M; Monaghan, Kristin G; Gerard, Amanda; Robak, Laurie; Chitayat, David; Botsford, Claire; Jurgensmeyer, Sarah; Leahy, Peter; Kruszka, Paul

Identification of de novo variants in KCTD10 as a proposed cause for multiple congenital anomalies

鉴定出KCTD10基因中的新生变异可能是多种先天性异常的病因

Morrow, Michelle M; Torti, Erin; McGivern, Bobbi; Gates, Ryan; Bekheirnia, Mir Reza; Bekheirnia, Nasim; Folk, Leandra; Holtrop, Shannon; Palculict, Timothy Blake; Redlich, Olivia L; Reich, Adi; Guillen Sacoto, Maria J; Shi, Lisong; Wentzensen, Ingrid M; McWalter, Kirsty

The phenotypic spectrum of individuals with SLC16A2 variants in MCT8 deficiency

MCT8缺陷患者携带SLC16A2变异体的表型谱

McWalter, Kirsty; Elloumi, Houda Zghal; Sidlow, Richard; Willis, Ben; Bauer, Andrew J

Expanding implementation of pediatric whole-genome sequencing: Insights from SeqFirst providers to inform equitable access to a precise genetic diagnosis

扩大儿科全基因组测序的应用:来自SeqFirst服务提供商的见解,有助于实现精准基因诊断的公平获取。

Yu, Joon-Ho; MacDuffie, Katherine E; Sommerland, Olivia; Theoryn, Tesla; Murali, Priyanka; Anderson, Kailyn; Sikes, Megan; Kruidenier, Lukas; Gildersleeve, Heidi I S; Scott, Abbey; Buckingham, Kati J; McWalter, Kirsty; Kruszka, Paul; Keefe, Alexandra C; Chong, Jessica X; Veenstra, David L; Dipple, Katrina M; Wenger, Tara; Doherty, Dan; Bamshad, Michael J

Auditory perception of biodiversity by human listeners

人类听觉对生物多样性的感知

Grinfeder, Elie; Sueur, Jérôme; McWalter, Richard; Apoux, Frédéric; Lorenzi, Christian