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

Differential negative dominance by KCNA2 variants associated with global developmental delay suggests KCNA2 haploinsufficiency in humans

KCNA2变异体与全面发育迟缓相关的差异性负显性作用提示人类存在KCNA2单倍体功能不全。

Boon, Pei Xin; Jauregi-Miguel, Amaia; Yasarbas, S Suheda; Pozzi, Serena; Karlsson, Urban; Husami, Ammar; Ko, Charmaine; Shillington, Amelle; Pantazis, Antonios

Recessive AARS1 variants perturb human and mouse development

隐性AARS1变异会扰乱人类和小鼠的发育

Watts, Jennifer L; Costantino, Nicole; Husami, Ammar; Dayarathna, Thamara; Willeke, Logan; Peña, Loren D M; Seiwert, Elizabeth; Gilbert, Donald L; Stottmann, Rolf W

Case Report: A patient with a novel heterozygous IRF8 variant with repeated infection and immune-mediated organ disease, but without disseminated mycobacterial disease despite BCG immunization

病例报告:一名携带新型杂合IRF8变异的患者,反复感染并出现免疫介导的器官疾病,但尽管接种了卡介苗,却未发生播散性分枝杆菌病。

Chiang, Samuel C C; Owsley, Erika; Husami, Ammar; Akeno, Nagako; Cobb, Cristina M; Yang, Li; Marsh, Rebecca A; Myers, Kenneth A; Rubin, Tamar S

Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients

测序验证了基于电子病历的深度学习模型在儿科患者努南综合征检测中的有效性

Yang, Zeyu; Shikany, Amy; Husami, Ammar; Wang, Xinjian; Mendonca, Eneida; Nicole Weaver, K; Chen, Jing

Genetic data normalization for genomic medicine: a Fast Healthcare Interoperability Resources Genomics reference implementation

基因组医学的遗传数据标准化:快速医疗互操作性资源基因组学参考实现

Dolin, Robert H; Todor, Nicolae-Mihai; Shalaby, James; Arsalan, Huda; Shah, Eshani; Basravi, Nedah; Husami, Ammar; Rampersad, Akash; Heale, Bret S E; Chamala, Srikar

Genetic analysis and functional assessment of a TGFBR2 variant in micrognathia and cleft palate.

对小颌畸形和腭裂中 TGFBR2 变异体的遗传分析和功能评估

Michaels Jes-Rite, Iyyanar Paul P R, Husami Ammar, Vontell Andrew M, Brugmann Samantha A, Stottmann Rolf W

A personalized medicine approach to optimize care for a pediatric cystic fibrosis patient with atypical clinical symptoms

采用个性化医疗方法优化对一名具有非典型临床症状的儿童囊性纤维化患者的治疗

Lee, Jesun; Husami, Ammar; Arora, Kavisha; Zhang, Weiqiang; Kadri, Ferdous; Yarlagadda, Sunitha; Moon, Changsuk; Mun, Kyu Shik; Zhang, Kejian; Huang, Yunjie; Liyanage, Pramodha; Brewington, John; Clancy, John P; Shaikhkhalil, Ala; Paul, Grace; Naren, Anjaparavanda P

Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III

RACGAP1基因突变导致常染色体隐性遗传性先天性红细胞生成障碍性贫血III型

Hernández, Gonzalo; Romero-Cortadellas, Lídia; Ferrer-Cortès, Xènia; Venturi, Veronica; Dessy-Rodriguez, Mercedes; Olivella, Mireia; Husami, Ammar; De Soto, Concepción Pérez; Morales-Camacho, Rosario M; Villegas, Ana; González-Fernández, Fernando-Ataulfo; Morado, Marta; Kalfa, Theodosia A; Quintana-Bustamante, Oscar; Pérez-Montero, Santiago; Tornador, Cristian; Segovia, Jose-Carlos; Sánchez, Mayka

Introducing HL7 FHIR Genomics Operations: a developer-friendly approach to genomics-EHR integration

HL7 FHIR 基因组学操作简介:一种对开发者友好的基因组学-EHR 集成方法

Dolin, Robert H; Heale, Bret S E; Alterovitz, Gil; Gupta, Rohan; Aronson, Justin; Boxwala, Aziz; Gothi, Shaileshbhai R; Haines, David; Hermann, Arthur; Hongsermeier, Tonya; Husami, Ammar; Jones, James; Naeymi-Rad, Frank; Rapchak, Barbara; Ravishankar, Chandan; Shalaby, James; Terry, May; Xie, Ning; Zhang, Powell; Chamala, Srikar

ARF1-related disorder: phenotypic and molecular spectrum

ARF1相关疾病:表型和分子谱

de Sainte Agathe, Jean-Madeleine; Pode-Shakked, Ben; Naudion, Sophie; Michaud, Vincent; Arveiler, Benoit; Fergelot, Patricia; Delmas, Jean; Keren, Boris; Poirsier, Céline; Alkuraya, Fowzan S; Tabarki, Brahim; Bend, Eric; Davis, Kellie; Bebin, Martina; Thompson, Michelle L; Bryant, Emily M; Wagner, Matias; Hannibal, Iris; Lenberg, Jerica; Krenn, Martin; Wigby, Kristen M; Friedman, Jennifer R; Iascone, Maria; Cereda, Anna; Miao, Térence; LeGuern, Eric; Argilli, Emanuela; Sherr, Elliott; Caluseriu, Oana; Tidwell, Timothy; Bayrak-Toydemir, Pinar; Hagedorn, Caroline; Brugger, Melanie; Vill, Katharina; Morneau-Jacob, Francois-Dominique; Chung, Wendy; Weaver, Kathryn N; Owens, Joshua W; Husami, Ammar; Chaudhari, Bimal P; Stone, Brandon S; Burns, Katie; Li, Rachel; de Lange, Iris M; Biehler, Margaux; Ginglinger, Emmanuelle; Gérard, Bénédicte; Stottmann, Rolf W; Trimouille, Aurélien