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

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

Kinetic organization of the genome revealed by ultraresolution multiscale live imaging

超高分辨率多尺度活体成像揭示基因组的动力学组织

Lee, Joo; Chen, Liang-Fu; Gaudin, Simon; Gupta, Kavvya; Novacic, Ana; Spakowitz, Andrew; Boettiger, Alistair Nicol

Emerging Clinical Role of Tavapadon, a Novel Dopamine Partial Agonist, in the Treatment of Parkinson's Disease

新型多巴胺部分激动剂Tavapadon在帕金森病治疗中的新兴临床作用

Kaye, Alan D; Ford, Bennett M; Abbott, Brennan M; Broocks, Kalob M; Novacic, Sofia; Shekoohi, Sahar

Calciphylaxis in POEMS syndrome: Case report

POEMS综合征合并钙化性尿毒症:病例报告

Novacic, Danica; Uldrick, Thomas; Dulau-Florea, Alina; Howe, Colleen Evans; Lee, Chyi-Chia R; Kong, Heidi H; Gahl, William A

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

未确诊疾病网络临床中心:对基因组医学和科学的独特贡献

Schoch, Kelly; Esteves, Cecilia; Bican, Anna; Spillmann, Rebecca; Cope, Heidi; McConkie-Rosell, Allyn; Walley, Nicole; Fernandez, Liliana; Kohler, Jennefer N; Bonner, Devon; Reuter, Chloe; Stong, Nicholas; Mulvihill, John J; Novacic, Donna; Wolfe, Lynne; Abdelbaki, Ayat; Toro, Camilo; Tifft, Cyndi; Malicdan, May; Gahl, William; Liu, Pengfei; Newman, John; Goldstein, David B; Hom, Jason; Sampson, Jacinda; Wheeler, Matthew T; Cogan, Joy; Bernstein, Jonathan A; Adams, David R; McCray, Alexa T; Shashi, Vandana

SGLT2 Inhibitors for Treatment of Refractory Hypomagnesemia: A Case Report of 3 Patients

SGLT2抑制剂治疗难治性低镁血症:3例患者病例报告

Ray, Evan C; Boyd-Shiwarski, Cary R; Liu, Pengfei; Novacic, Danica; Cassiman, David

ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder

五个家族中的 ALPK1 错义致病变异导致 ROSAH 综合征(一种眼部多系统常染色体显性遗传病)

Lloyd B Williams, Asif Javed, Amin Sabri, Denise J Morgan, Chad D Huff, John R Grigg, Xiu Ting Heng, Alexis J Khng, Iris H I M Hollink, Margaux A Morrison, Leah A Owen, Katherine Anderson, Krista Kinard, Rebecca Greenlees, Danica Novacic, H Nida Sen, Wadih M Zein, George M Rodgers, Albert T Vitale, 

Case report: extreme coronary calcifications and hypomagnesemia in a patient with a 17q12 deletion involving HNF1B

病例报告:17q12缺失累及HNF1B基因的患者出现严重冠状动脉钙化和低镁血症

Li, Howard J; Groden, Catherine; Hoenig, Melanie P; Ray, Evan C; Ferreira, Carlos R; Gahl, Willam; Novacic, Danica

De Novo Missense Variants in TRAF7 Cause Developmental Delay, Congenital Anomalies, and Dysmorphic Features

TRAF7基因的新生错义突变会导致发育迟缓、先天性异常和畸形特征

Tokita, Mari J; Chen, Chun-An; Chitayat, David; Macnamara, Ellen; Rosenfeld, Jill A; Hanchard, Neil; Lewis, Andrea M; Brown, Chester W; Marom, Ronit; Shao, Yunru; Novacic, Danica; Wolfe, Lynne; Wahl, Colleen; Tifft, Cynthia J; Toro, Camilo; Bernstein, Jonathan A; Hale, Caitlin L; Silver, Julia; Hudgins, Louanne; Ananth, Amitha; Hanson-Kahn, Andrea; Shuster, Shirley; Magoulas, Pilar L; Patel, Vipulkumar N; Zhu, Wenmiao; Chen, Stella M; Jiang, Yanjun; Liu, Pengfei; Eng, Christine M; Batkovskyte, Dominyka; di Ronza, Alberto; Sardiello, Marco; Lee, Brendan H; Schaaf, Christian P; Yang, Yaping; Wang, Xia

The grading model for the assessment of the total amount of epidural fibrosis in postoperative lumbar spine

腰椎术后硬膜外纤维化总量的评估分级模型

Lubina, Zvonimir Ivan; Baranovic, Senka; Karlak, Ivan; Novacic, Karlo; Potocki-Karacic, Tanja; Lovrić, Dražen