WASHINGTON UNIVERSITY SCHOOL OF MEDICINE UNDIAGNOSED DISEASES NETWORK CLINICAL SITE

华盛顿大学医学院未确诊疾病网络临床网站

• 批准号: 10600550
• 负责人: PATRICIA I DICKSON
• 金额: $ 47.62万
• 依托单位: WASHINGTON UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2022
• 资助国家: 美国
• 起止时间: 2022-04-02 至 2023-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10600550
• 关键词: Academic Medical Centers; Administrative Supplement; Adult; Basic Science; Bioinformatics; Biological; Biomedical Research; Cell model; Cells; Childhood; Clinical; Clinical Investigator; Clinical Research; Clinical and Translational Science Awards; Collaborations; Communities; Computer Models; Consent; Data; Diagnosis; Dideoxy Chain Termination DNA Sequencing; Disease; Disease Management; Documentation; Environmental Exposure; Enzyme-Linked Immunosorbent Assay; Evaluation; Expert Systems; Faculty; Family; Functional disorder; Funding; Genes; Genomics; Genotype; Individual; Infrastructure; International; Laboratories; Manuscripts; Methods; Methylation; Molecular; Participant; Pathogenicity; Patients; Phenotype; Process; Proteins; Protocols documentation; Publications; Research Personnel; Resources; Review Committee; Secure; Site; Standardization; Time; Training; Translational Research; Underrepresented Minority; Universities; Variant; Washington; Western Blotting; Work; clinical research site; data dissemination; design; disease diagnosis; experience; follow-up; genomic data; improved; innovation; medical schools; metabolomics; outreach; recruit; research clinical testing; student training; success; transcriptome sequencing

PROJECT SUMMARY Not applicable to this supplement.

项目摘要 不适用于此补品。

项目成果

A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration.

• DOI: 10.1016/j.ajhg.2020.11.004
• 发表时间: 2020-11
• 期刊: American journal of human genetics
• 影响因子: 9.8
• 作者: Maya M. Polovitskaya;Carlo Barbini;D. Martinelli;Frederike L Harms;F. Sessions;Cole;Paolo Calligari;G. Bocchinfuso;L. Stella;Marcello;Niceta;T. Rizza;M. Shinawi;Kathleen Sisco;J. Johannsen;Jonas;Denecke;R. Carrozzo;D. Wegner;K. Kutsche;Marco;Tartaglia;T. Jentsch

Discovery of a novel CHD7 CHARGE syndrome variant by integrated omics analyses.

• DOI: 10.1002/ajmg.a.61962
• 发表时间: 2021-03
• 期刊: American journal of medical genetics. Part A
• 作者: Granadillo JL;Wegner DJ;Paul AJ;Willing M;Sisco K;Tedder ML;Sadikovic B;Wambach JA;Baldridge D;Cole FS;Undiagnosed Diseases Network
• 通讯作者: Undiagnosed Diseases Network

Social, neurodevelopmental, endocrine, and head size differences associated with atypical deletions in Williams-Beuren syndrome.

• DOI: 10.1002/ajmg.a.61522
• 发表时间: 2020-05
• 期刊: American journal of medical genetics. Part A
• 作者: Lugo M;Wong ZC;Billington CJ Jr;Parrish PCR;Muldoon G;Liu D;Pober BR;Kozel BA
• 通讯作者: Kozel BA