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

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

非编码RNA基因RNU4-2的双等位基因变异会导致一种隐性遗传的神经发育综合征,并伴有明显的白质改变。

Rius, Rocio; Blakes, Alexander J M; Chen, Yuyang; De Jonghe, Joachim; Lecoquierre, François; Dawes, Ruebena; Cogne, Benjamin; Kim, Hyung Chul; Alvi, Javeria R; Amblard, Florence; Ansari, Morad; Arlt, Annabelle; Austin-Tse, Christina; Baer, Sarah; Balasubramanian, Meena; Balton, Elsa V; Barcia, Giulia; Beleza-Meireles, Ana; Bernstein, Jonathan A; Beygo, Jasmin; Blanc, Pierre; Bramswig, Nuria C; Braun, Frederik; Buchzik, Daniel; Calame, Daniel G; Campbell, Jamie; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Depienne, Christel; Dipple, Katrina M; Dieux, Anne; Dixit, Abhijit; Dreyer, Lauren; Du, Haowei; El Chehadeh, Salima; Field, Michael; Ewans, Lisa J; Geiger, Vanessa; Gibbs, Richard A; Glass, Ian; Grunewald, Olivier; Gueguen, Paul; Haack, Tobias B; Hadj Abdallah, Hamza; Harbuz, Radu; Helbig, Ingo; Horvath, Judit; Hustinx, Alexander; Isidor, Bertrand; Jacquemont, Marie-Line; Jamie, Fraser; Jeanne, Médéric; Kessler, Riley; Klinkhammer, Hannah; Korenke, G Christoph; Kotzaeridou, Urania; Krawitz, Peter; Laurie, Steven; Leventer, Richard J; Levy, Rebecca J; Lupski, James R; Marijon, Pierre; McGinnis, Kaitlin E; Mendez, Rodrigo; Messaoud, Olfa; Nava, Caroline; Nizard, Mevyn; O'Donnell-Luria, Anne; O'Leary, Melanie C; Olivieri, Simone; Parida, Amitav; Pehlivan, Davut; Prentice, Anna Jenne; Posey, Jennifer E; Reuter, Chloe M; Satre, Véronique; Schluth-Bolard, Caroline; Smol, Thomas; Sultan, Tipu; Taylor, John; Thauvin-Robinetvin, Christel; Thevenon, Julien; Uebergang, Eloise; Ueberberg, Sandra; Vincent-Delorme, Catherine; Wassmer, Evangeline; Westwood, Emma; Wheeler, Matthew T; Gulec, Elif Yilmaz; Vanderver, Adeline; Vossough, Arastoo; Sanders, Stephan J; Banka, Siddharth; Findlay, Gregory M; MacArthur, Daniel G; Simons, Cas; Whiffin, Nicola

Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition.

同步长读长基因组、甲基化组、表观基因组和转录组分析揭示了孟德尔遗传病的成因

Vollger Mitchell R, Korlach Jonas, Eldred Kiara C, Swanson Elliott, Underwood Jason G, Bohaczuk Stephanie C, Mao Yizi, Cheng Yong-Han H, Ranchalis Jane, Blue Elizabeth E, Schwarze Ulrike, Munson Katherine M, Saunders Christopher T, Wenger Aaron M, Allworth Aimee, Chanprasert Sirisak, Duerden Brittney L, Glass Ian, Horike-Pyne Martha, Kim Michelle, Leppig Kathleen A, McLaughlin Ian J, Ogawa Jessica, Rosenthal Elisabeth A, Sheppeard Sam, Sherman Stephanie M, Strohbehn Samuel, Yuen Amy L, Stacey Andrew W, Reh Thomas A, Byers Peter H, Bamshad Michael J, Hisama Fuki M, Jarvik Gail P, Sancak Yasemin, Dipple Katrina M, Stergachis Andrew B

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

Case Report: An atypical case of ARPKD highlights the utility and challenges of implementing genetic testing in cystic kidney disease

病例报告:一例非典型ARPKD病例凸显了在囊性肾病中实施基因检测的实用性和挑战。

Marquez, Jonathan; Hawkins, Lauren M; Beck, Anita E; Dipple, Katrina M; Glass, Ian A; Keefe, Alexandra C; Nguyen, Elizabeth D

Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions

利用 IsoRanker 进行长读长转录组分析,以识别孟德尔遗传病中的致病变异。

Cheng, Yong-Han Hank; Sedeño-Cortés, Adriana E; Ranchalis, Jane E; Munson, Katherine M; Vollger, Mitchell R; Balton, Elsa; Genetti, Casie A; Wojcik, Monica H; Beggs, Alan H; Bamshad, Michael J; Wei, Chia-Lin; Dipple, Katrina M; Kumar, Runjun D; Blue, Elizabeth E; Jarvik, Gail; Chong, Jessica X; Witten, Daniela M; O'Donnell-Luria, Anne; Stergachis, Andrew B

Saturation genome editing of RNU4-2 reveals distinct dominant and recessive neurodevelopmental disorders

RNU4-2 的饱和基因组编辑揭示了不同的显性和隐性神经发育障碍

De Jonghe, Joachim; Kim, Hyung Chul; Adedeji, Ayanfeoluwa; Leitão, Elsa; Dawes, Ruebena; Chen, Yuyang; Blakes, Alexander Jm; Simons, Cas; Rius, Rocio; Alvi, Javeria R; Amblard, Florence; Austin-Tse, Christina; Baer, Sarah; Balton, Elsa V; Blanc, Pierre; Calame, Daniel G; Coutton, Charles; Cunningham, Chloe A; Dargie, Nitsuh; Dipple, Katrina M; Du, Haowei; El Chehadeh, Salima; Glass, Ian; Gleeson, Joseph G; Grunewald, Olivier; Gueguen, Paul; Harbuz, Radu; Jacquemont, Marie-Line; Leventer, Richard J; Marijon, Pierre; Messaoud, Olfa; Sultan, Tipu; Thauvin, Christel; Vincent-Delorme, Catherine; Gulec, Elif Yilmaz; Thevenon, Julien; Mendez, Rodrigo; MacArthur, Daniel G; Depienne, Christel; Nava, Caroline; Whiffin, Nicola; Findlay, Gregory M

Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts

UQCRFS1相关线粒体复合物III缺乏症和隐性GJA8相关白内障的双重诊断

Blue, Elizabeth E; Huang, Samuel J; Khan, Alyna; Golden-Grant, Katie; Boyd, Brenna; Rosenthal, Elisabeth A; Gillentine, Madelyn A; Fleming, Leah R; Adams, David R; Wolfe, Lynne; Allworth, Aimee; Bamshad, Michael J; Caruana, Nikeisha J; Chanprasert, Sirisak; Chen, Jingheng; Dargie, Nitsuh; Doherty, Daniel; Friederich, Marisa W; Hisama, Fuki M; Horike-Pyne, Martha; Lee, Jessica C; Donovan, Tonia E; Hock, Daniella H; Leppig, Kathleen A; Miller, Danny E; Mirzaa, Ghayda; Ranchalis, Jane; Raskind, Wendy H; Michel, Cole R; Reisdorph, Richard; Schwarze, Ulrike; Sheppeard, Sam; Strohbehn, Samuel; Stroud, David A; Sybert, Virginia P; Wener, Mark H; Stergachis, Andrew B; Lam, Christina T; Jarvik, Gail P; Dipple, Katrina M; Van Hove, Johan L K; Glass, Ian A

Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome

SLC1A4基因的显性负性变异会导致常染色体显性遗传性癫痫综合征。

Pujol-Giménez, Jonai; Mirzaa, Ghayda; Blue, Elizabeth E; Albano, Giuseppe; Miller, Danny E; Allworth, Aimee; Bennett, James T; Byers, Peter H; Chanprasert, Sirisak; Chen, Jingheng; Doherty, Daniel; Folta, Andrew B; Gillentine, Madelyn A; Glass, Ian; Hing, Anne; Horike-Pyne, Martha; Leppig, Kathleen A; Parhin, Azma; Ranchalis, Jane; Raskind, Wendy H; Rosenthal, Elisabeth A; Schwarze, Ulrike; Sheppeard, Sam; Strohbehn, Samuel; Sybert, Virginia P; Timms, Andrew; Wener, Mark; Bamshad, Michael J; Hisama, Fuki M; Jarvik, Gail P; Dipple, Katrina M; Hediger, Matthias A; Stergachis, Andrew B

Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A

利用全长同工型测序解析夏科-马里-图斯病2A型的分子基础

Stergachis, Andrew B; Blue, Elizabeth E; Gillentine, Madelyn A; Wang, Lee-Kai; Schwarze, Ulrike; Cortés, Adriana Sedeño; Ranchalis, Jane; Allworth, Aimee; Bland, Austin E; Chanprasert, Sirisak; Chen, Jingheng; Doherty, Daniel; Folta, Andrew B; Glass, Ian; Horike-Pyne, Martha; Huang, Alden Y; Khan, Alyna T; Leppig, Kathleen A; Miller, Danny E; Mirzaa, Ghayda; Parhin, Azma; Raskind, Wendy H; Rosenthal, Elisabeth A; Sheppeard, Sam; Strohbehn, Samuel; Sybert, Virginia P; Tran, Thao T; Wener, Mark H; Byers, Peter H H; Nelson, Stanley F; Bamshad, Michael J; Dipple, Katrina M; Jarvik, Gail P; Hoppins, Suzanne; Hisama, Fuki M

Targeted long-read sequencing identifies missing disease-causing variation

靶向长读长测序可识别缺失的致病变异

Miller, Danny E; Sulovari, Arvis; Wang, Tianyun; Loucks, Hailey; Hoekzema, Kendra; Munson, Katherine M; Lewis, Alexandra P; Fuerte, Edith P Almanza; Paschal, Catherine R; Walsh, Tom; Thies, Jenny; Bennett, James T; Glass, Ian; Dipple, Katrina M; Patterson, Karynne; Bonkowski, Emily S; Nelson, Zoe; Squire, Audrey; Sikes, Megan; Beckman, Erika; Bennett, Robin L; Earl, Dawn; Lee, Winston; Allikmets, Rando; Perlman, Seth J; Chow, Penny; Hing, Anne V; Wenger, Tara L; Adam, Margaret P; Sun, Angela; Lam, Christina; Chang, Irene; Zou, Xue; Austin, Stephanie L; Huggins, Erin; Safi, Alexias; Iyengar, Apoorva K; Reddy, Timothy E; Majoros, William H; Allen, Andrew S; Crawford, Gregory E; Kishnani, Priya S; King, Mary-Claire; Cherry, Tim; Chong, Jessica X; Bamshad, Michael J; Nickerson, Deborah A; Mefford, Heather C; Doherty, Dan; Eichler, Evan E