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

Genetic Diagnosis and Discovery Enabled by Large Language Models

大型语言模型助力基因诊断与发现

Tu, Tao; Saab, Khaled; Liu, Weida; Fang, Zhouqing; Cheng, Zhuanfen; Spasic, Svetolik; Djurisic, Maja; Mohri, Hiroaki; Ren, Wenlong; Palepu, Anil; Gottweis, Juraj; Karthikesalingam, Alan; Kulkarni, Kavita; Pawlosky, Annalisa; Bonner, Devon; Kravets, Elijah; Marwaha, Shruti; Mendez, Hector R; Wheeler, Matthew T; Bernstein, Jonathan A; Tsai, Cheng-Yu; Wu, Chen-Chi; Stankovic, Konstantina M; Natarajan, Vivek; Peltz, Gary

Biallelic LAMP3 variants in 5 families with interstitial lung disease: Evidence of a disease-gene association.

个间质性肺病家族中的双等位基因 LAMP3 变异:疾病基因关联的证据。

Keehan Laura A, Ono-Minagi Hitomi, Hadhud Mohamad, Rips Jonathan, Hinds Daniel M, Fischer Anthony J, Bartlett Jennifer A, McCray Paul B, Qawasmi Nada, Nathan Nadia, Louvrier Camille, Desroziers Tifenn, Damme Markus, Griese Matthias, Wegner Daniel J, Cole F Sessions, Wambach Jennifer A, Wheeler Matthew T, Burbelo Peter D, Bonner Devon E, Bernstein Jonathan A, Chiorini John A, Breuer Oded, Milla Carlos

Bi-allelic RNU6ATAC variants cause a minor spliceopathy characterized by transcriptome-wide minor intron retention and multisystem manifestations

RNU6ATAC双等位基因变异会导致一种轻微的剪接病,其特征是转录组范围内的次要内含子保留和多系统表现。

Mendez, Rodrigo; Arriaga, Taylor M; Ma, Jialan; Bonner, Devon E; Emami, Sara; Levy, Rebecca J; Alsagheir, Afaf; Alhaddad, Bader; Bakur, Khadijah; Ungar, Rachel A; Matalon, Dena R; Miller, Alexander M; Nguyen, Jonathan; Smith, Kevin S; Scott, Stuart A; Liao, Linda; Ng, Zena; Marwaha, Shruti; Ward, Alistair; Novacic, Danica; Alkuraya, Fowzan S; Bernstein, Jonathan A; Ganesh, Vijay S; O'Donnell-Luria, Anne; Montgomery, Stephen B; Wheeler, Matthew T

GREGoR: accelerating genomics for rare diseases

GREGoR:加速罕见病基因组学研究

Dawood, Moez; Heavner, Ben; Wheeler, Marsha M; Ungar, Rachel A; LoTempio, Jonathan; Wiel, Laurens; Berger, Seth; Bernstein, Jonathan A; Chong, Jessica X; Délot, Emmanuèle C; Eichler, Evan E; Lupski, James R; Shojaie, Ali; Talkowski, Michael E; Wagner, Alex H; Wei, Chia-Lin; Wellington, Christopher; Wheeler, Matthew T; Carvalho, Claudia M B; Gibbs, Richard A; Gifford, Casey A; May, Susanne; Miller, Danny E; Rehm, Heidi L; Samocha, Kaitlin E; Sedlazeck, Fritz J; Vilain, Eric; O'Donnell-Luria, Anne; Posey, Jennifer E; Chadwick, Lisa H; Bamshad, Michael J; Montgomery, Stephen B

Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy

低外显率肌节变异体增加肥厚型心肌病风险

Meisner, Joshua K; Renberg, Aaron; Smith, Eric D; Tsan, Yao-Chang; Elder, Brynn; Bullard, Abbey; Merritt, Owen L; Zheng, Sean L; Lakdawala, Neal K; Owens, Anjali T; Ryan, Thomas D; Miller, Erin M; Rossano, Joseph W; Lin, Kimberly Y; Claggett, Brian L; Ashley, Euan A; Michels, Michelle; Lampert, Rachel; Stendahl, John C; Abrams, Dominic; Semsarian, Christopher; Parikh, Victoria N; Wheeler, Matthew T; Ingles, Jodie; Olivotto, Iacopo; Day, Sharlene M; Saberi, Sara; Russell, Mark W; Previs, Michael; Ho, Carolyn Y; Ware, James S; Helms, Adam S

Endurance Training Enhances Sex-Specific Cardioprotective Metabolism

耐力训练增强性别特异性的心脏保护代谢

Brochet, Pauline; Montalvo, Samuel; Lindholm, Maléne E; Jimenez-Morales, David; Jin, Christopher A; Rasmussen, Blake B; Kraus, William E; Yan, Zhen; Wheeler, Matthew T; Katz, Daniel H

Valsartan and Cardiac Remodeling in Early-Stage Hypertrophic Cardiomyopathy: The VANISH Randomized Clinical Trial Cardiac Magnetic Resonance Substudy

缬沙坦与早期肥厚型心肌病心脏重塑:VANISH随机临床试验心脏磁共振子研究

Ostrominski, John W; Claggett, Brian L; Jerosch-Herold, Michael; Raja, Anna Axelsson; Day, Sharlene M; Russell, Mark W; Zahka, Kenneth; Pereira, Alexandre C; Colan, Steven D; Murphy, Anne M; Canter, Charles; Bach, Richard G; Wheeler, Matthew T; Rossano, Joseph W; Owens, Anjali T; Mestroni, Luisa; Taylor, Matthew R G; Patel, Amit R; Wilmot, Ivan; Soslow, Jonathan H; Becker, Jason R; Lakdawala, Neal K; Bundgaard, Henning; Vargas, Jose D; Ho, Carolyn Y

An optimized variant prioritization process for rare disease diagnostics: recommendations for Exomiser and Genomiser

针对罕见病诊断的优化变异优先级排序流程:Exomiser 和 Genomiser 的建议

Cooperstein, Isabelle B; Marwaha, Shruti; Ward, Alistair; Kobren, Shilpa N; Carter, Jennefer N; Wheeler, Matthew T; Marth, Gabor T

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

全转录组异常值方法识别患有轻微剪接异常的个体

Arriaga, Taylor M; Mendez, Rodrigo; Ungar, Rachel A; Bonner, Devon E; Matalon, Dena R; Lemire, Gabrielle; Goddard, Pagé C; Padhi, Evin M; Miller, Alexander M; Nguyen, Jonathan V; Ma, Jialan; Smith, Kevin S; Scott, Stuart A; Liao, Linda; Ng, Zena; Marwaha, Shruti; Bademci, Guney; Bivona, Stephanie A; Tekin, Mustafa; Bernstein, Jonathan A; Montgomery, Stephen B; O'Donnell-Luria, Anne; Wheeler, Matthew T; Ganesh, Vijay S