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

Improving automated deep phenotyping through large language models using retrieval-augmented generation

利用检索增强生成技术,通过大型语言模型改进自动化深度表型分析

Garcia, Brandon T; Westerfield, Lauren; Yelemali, Priya; Gogate, Nikhita; Rivera-Munoz, E Andres; Du, Haowei; Dawood, Moez; Jolly, Angad; Lupski, James R; Posey, Jennifer E

Surgical and conservative management of medial plica syndrome: A systematic review and meta-analysis of functional outcomes

内侧皱襞综合征的手术和保守治疗:功能结果的系统评价和荟萃分析

Franco, Piero; Baumert, Philipp; Di Maria, Fabrizio; Jolly, Angad; Matassi, Fabrizio; Abermann, Elisabeth; D'Ambrosi, Riccardo; Christian Fink

Malunited Femur Shaft with Broken K-Nail In Situ with Medial Compartment Knee Arthritis: Deformity Correction and Knee Preservation

股骨干畸形愈合伴断裂的K型钉内固定及内侧间室膝关节炎:畸形矫正及膝关节保留

Arora, Gaurav; Jolly, Angad; Parvir, Kuru; Kapoor, Sudhir; Kantroo, Anshu Anand; Sanduja, Kashish

Domain specific phenotypic expansion associated with variants in MACF1

MACF1基因变异相关的结构域特异性表型扩展

Gogate, Nikhita; Jolly, Angad; Rosenfeld, Jill A; Bahena-Carbajal, Paulina; Bernstein, Jonathan A; Bonner, Devon; Busa, Tiffany; Cristian, Ingrid; D'Souza, Precilla; Friedman, Jennifer; Gorokhova, Svetlana; Haaf, Thomas; Herman, Isabella; Isin, Ugur Ufuk; Jhangiani, Shalini N; Johnson, Ivy; Lenberg, Jerica; Macnamara, Ellen F; Maroofian, Reza; Redlich, Olivia L; Tifft, Cynthia; Tos, Tulay; Vona, Barbara; Zambrano, Regina M; Wentzensen, Ingrid M; Wigby, Kristen; Pehlivan, Davut; Gibbs, Richard A; Lupski, James R; Posey, Jennifer E

Expanding the Clinical and Molecular Spectrum of TUBB2B Through Distinct Variants Identified Across Multiple Families

通过在多个家族中发现的不同变异,扩展了TUBB2B的临床和分子谱

Beheshti, Shaghayegh T; Jolly, Angad; Saad, Ahmed K; Du, Haowei; Westerfield, Lauren E; Munderloh, Chloe; Kalra, Divya; Wu, Yifan; Chen, Yi; Gingras, Marie-Claude; Jhangiani, Shalini N; Yilmaz, Sarenur; Zaki, Maha S; Calame, Daniel G; Pehlivan, Davut; Gibbs, Richard A; Lewis, Richard A; Lupski, James R; Posey, Jennifer E

HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data

HMZDupFinder:一种用于从外显子组测序数据中检测基因内纯合重复的稳健计算方法

Du, Haowei; Dardas, Zain; Jolly, Angad; Grochowski, Christopher M; Jhangiani, Shalini N; Li, He; Muzny, Donna; Fatih, Jawid M; Yesil, Gozde; Elçioglu, Nursel H; Gezdirici, Alper; Marafi, Dana; Pehlivan, Davut; Calame, Daniel G; Carvalho, Claudia M B; Posey, Jennifer E; Gambin, Tomasz; Coban-Akdemir, Zeynep; Lupski, James R

NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy

NODAL基因变异与一系列侧位缺陷相关,从简单的D型大动脉转位到异位症。

Dardas, Zain; Fatih, Jawid M; Jolly, Angad; Dawood, Moez; Du, Haowei; Grochowski, Christopher M; Jones, Edward G; Jhangiani, Shalini N; Wehrens, Xander H T; Liu, Pengfei; Bi, Weimin; Boerwinkle, Eric; Posey, Jennifer E; Muzny, Donna M; Gibbs, Richard A; Lupski, James R; Coban-Akdemir, Zeynep; Morris, Shaine A

Transtibial Pullout for Medial Meniscus Posterior Root Reconstruction With Split-Gracilis Autograft

采用胫骨牵引自体劈裂股薄肌腱移植重建内侧半月板后根

Franco, Piero; Jolly, Angad; Abermann, Elisabeth; Fink, Christian; Hoser, Christian

Improving Automated Deep Phenotyping Through Large Language Models Using Retrieval Augmented Generation

利用检索增强生成技术,通过大型语言模型改进自动化深度表型分析

Garcia, Brandon T; Westerfield, Lauren; Yelemali, Priya; Gogate, Nikhita; Andres Rivera-Munoz, E; Du, Haowei; Dawood, Moez; Jolly, Angad; Lupski, James R; Posey, Jennifer E

Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome

罕见变异富集分析支持GREB1L是Mayer-Rokitansky-Küster-Hauser综合征病因学中的一个驱动基因。

Jolly, Angad; Du, Haowei; Borel, Christelle; Chen, Na; Zhao, Sen; Grochowski, Christopher M; Duan, Ruizhi; Fatih, Jawid M; Dawood, Moez; Salvi, Sejal; Jhangiani, Shalini N; Muzny, Donna M; Koch, André; Rouskas, Konstantinos; Glentis, Stavros; Deligeoroglou, Efthymios; Bacopoulou, Flora; Wise, Carol A; Dietrich, Jennifer E; Van den Veyver, Ignatia B; Dimas, Antigone S; Brucker, Sara; Sutton, V Reid; Gibbs, Richard A; Antonarakis, Stylianos E; Wu, Nan; Coban-Akdemir, Zeynep H; Zhu, Lan; Posey, Jennifer E; Lupski, James R