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

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

RNU2-2基因的双等位基因变异会导致最常见的已知隐性遗传性神经发育障碍。

Greene, Daniel; Mendez, Rodrigo; Lees, Jon; Barbosa, Mafalda; Bruselles, Alessandro; Chiriatti, Luigi; Ferraro, Federico; Mancini, Cecilia; Schot, Rachel; Sleutels, Frank; Bertini, Enrico; Bonner, Devon E; Bouman, Arjan; Brooks, Alice S; Cassini, Thomas A; Ezell, Kimberly M; Gomez-Ospina, Natalia; Kleefstra, Tjitske; O'Donoghue, Michael; Rives, Lynette; Shashi, Vandana; Spillmann, Rebecca C; Wafik, Mohamed; Freson, Kathleen; Barakat, Tahsin Stefan; Tartaglia, Marco; Bernstein, Jonathan A; Mumford, Andrew D; Wheeler, Matthew T; Turro, Ernest

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

De novo variants in KDM2A cause a syndromic neurodevelopmental disorder.

KDM2A基因的新生变异会导致综合征性神经发育障碍。

Anderson Eric N, Drukewitz Stephan, Kour Sukhleen, Chimata Anuradha V, Rajan Deepa S, Schönnagel Senta, Stals Karen L, Donnelly Deirdre, O'Sullivan Siobhan, Mantovani John F, Tan Tiong Y, Stark Zornitza, Zacher Pia, Chatron Nicolas, Monin Pauline, Drunat Severine, Vial Yoann, Latypova Xenia, Levy Jonathan, Verloes Alain, Carter Jennefer N, Bonner Devon E, Shankar Suma P, Bernstein Jonathan A, Cohen Julie S, Comi Anne, Carere Deanna Alexis, Dyer Lisa M, Mullegama Sureni V, Sanchez-Lara Pedro A, Grand Katheryn, Kim Hyung-Goo, Ben-Mahmoud Afif, Gospe Sidney M Jr, Belles Rebecca S, Bellus Gary, Lichtenbelt Klaske D, Oegema Renske, Rauch Anita, Ivanovski Ivan, Mau-Them Frederic Tran, Garde Aurore, Rabin Rachel, Pappas John, Bley Annette E, Bredow Janna, Wagner Timo, Decker Eva, Bergmann Carsten, Domenach Louis, Margot Henri, Lemke Johannes R, Abou Jamra Rami, Hentschel Julia, Mefford Heather, Singh Amit, Pandey Udai Bhan, Platzer Konrad

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

De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder

RSF1基因的新生杂合变异是导致综合征性神经发育障碍的原因。

Jost, Céline; Busa, Tiffany; Wegner, Daniel; Shinawi, Marwan; Schaefer, Elise; Piton, Amélie; Schluth-Bolard, Caroline; Charles, Perrine; Keren, Boris; Mayerhanser, Katharina; Brunet, Theresa; Schatz, Ulrich; Neil, Jennifer E; Walsh, Christopher A; Sisco, Kathleen; J Paul, Alexander; Lee, Chung; Dykzeul, Natalie; Bonner, Devon; Bernstein, Jonathan A; Sutcliffe, Erin; Wentzensen, Ingrid M; Froehlich, Catherine; Liebler, Kaleigh; Galvin Parton, Patricia; Weiss-Burns, Jody; Sagnol, Chloé; Delanne, Julian; Racine, Caroline; Thauvin-Robinet, Christel; Safraou, Hana; Tran Mau-Them, Frédéric; Duffourd, Yannis; Bruel, Ange-Line; Faivre, Laurence

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

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

Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease

转录组学和长读长基因组学的整合优先考虑罕见病中的结构变异

Jensen, Tanner D; Ni, Bohan; Reuter, Chloe M; Gorzynski, John E; Fazal, Sarah; Bonner, Devon; Ungar, Rachel A; Goddard, Pagé C; Raja, Archana; Ashley, Euan A; Bernstein, Jonathan A; Zuchner, Stephan; Greicius, Michael D; Montgomery, Stephen B; Schatz, Michael C; Wheeler, Matthew T; Battle, Alexis

"Nobody listened to us for years": Parents' experiences of provider communication in the diagnostic odyssey

“多年来没人听我们说话”:父母在诊断过程中与医护人员沟通的经历

Nguyen, Michelle M; Mahfoozi, Sevil; Bonner, Devon; Martschenko, Daphne O; Giri, Alisha; Tang, Charis; Bernstein, Jonathan A; Wheeler, Matthew T; Halley, Meghan C

Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study

远程医疗在评估未确诊罕见病患者方面有效:一项未确诊疾病网络研究

Tan, Queenie K-G; McConkie-Rosell, Allyn; Brown, Rachel M; Spillmann, Rebecca C; Schoch, Kelly; Chanprasert, Sirisak; Acosta, Maria T; Toro, Camilo; Rosenfeld, Jill A; Orengo, James P; Scott, Daryl A; Granadillo, Jorge L; Sisco, Kathleen; Wegner, Daniel J; Tekin, Mustafa; Bivona, Stephanie; Peart, LéShon; Rodan, Lance; Bonner, Devon; Wheeler, Matthew T; Bernstein, Jonathan A; Ruzhnikov, Maura; Adams, David R; Hisama, Fuki M; Shashi, Vandana