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

The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA , DCLRE1C , IL2RG , IL7R , JAK3 , RAG1 , and RAG2

ClinGen 重症联合免疫缺陷病变异注释专家组:ADA、DCLRE1C、IL2RG、IL7R、JAK3、RAG1 和 RAG2 变异分类规范

Jacovas, Vanessa C; Zelnick, Michelle; McNulty, Shannon; Ross, Justyne E; Khurana, Namrata; Pan, Xueyang; Nieto, Alejandro; Martin, Shiloh; McLean, Benjamin; Elnagheeb, Marwa A; Cowan, Morton J; Puck, Jennifer M; Hershfield, Mike; Verbsky, James; Walter, Jolan; Allenspach, Eric; Chan, Alice Y; van Oers, Nicolai S C; Ghosh, Rajarshi; Piazza, Megan; Yuan, Bo; Notarangelo, Luigi D; Johnson, Britt A; Chinn, Ivan K

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the clinical validity of 111 gene-disease relationships

ClinGen综合征疾病基因注释专家组:评估111个基因-疾病关系的临床有效性

Broeren, Eleanor C; Gitau, Vanessa N; Byrne, Alicia B; Ajuyah, Pamela; Balzotti, Marie B; Berg, Jonathan S; Bluske, Krista; Bowen, B Monica; Brown, Matthew P; Buchanan, Amanda; Burns, Brendan T; Burns, Nicole J; Chandrasekhar, Anjana; Chawla, Aditi; Chong, Jessica X; Chopra, Maya; Clause, Amanda R; DiStefano, Marina T; DiTroia, Stephanie; Elnagheeb, Marwa A; Girod, Amanda N; Goel, Himanshu; Golden-Grant, Katie L; Ha, Thuong; Hamosh, Ada; Huang, Jennifer M; Hughes, Madeline Y; Jamuar, Saumya S; Kam, Sylvia; Kesari, Akanchha; Koh, Ai Ling; Lassiter, Rhonda N T; Leigh, Sarah E; Lemire, Gabrielle; Lim, Jiin Ying; Malhotra, Alka; McCurry, Hannah R; Milewski, Becky; Moosa, Shahida; Murray, Stephen A; Owens, Emma H; Palmer, Elizabeth E; Palus, Brooke C; Patel, Mayher J; Rajkumar, Revathi; Ratliff, Julie C; Raymond, F Lucy; Della Ripa Rodrigues Assis, Bruno; Sajan, Samin A; Schlachetzki, Zinayida; Schmidt, Sarah A; Stark, Zornitza; Strom, Samuel P; Taylor, Julie P; Thaxton, Courtney; Thrush, Devon L; Toro, Sabrina; Tshering, Kezang C; Vasilevsky, Nicole A; Wayburn, Bess; Webb, Ryan F; O'Donnell-Luria, Anne; Coffey, Alison J

Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy

专家组筛选出与肢带型肌营养不良症相关的31个基因

Mohan, Shruthi; McNulty, Shannon; Thaxton, Courtney; Elnagheeb, Marwa; Owens, Emma; Flowers, May; Nunnery, Teagan; Self, Autumn; Palus, Brooke; Gorokhova, Svetlana; Kennedy, April; Niu, Zhiyv; Johari, Mridul; Maiga, Alassane Baneye; Macalalad, Kelly; Clause, Amanda R; Beckmann, Jacques S; Bronicki, Lucas; Cooper, Sandra T; Ganesh, Vijay S; Kang, Peter B; Kesari, Akanchha; Lek, Monkol; Levy, Jennifer; Rufibach, Laura; Savarese, Marco; Spencer, Melissa J; Straub, Volker; Tasca, Giorgio; Weihl, Conrad C

Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy

专家组筛选出与肢带型肌营养不良症相关的31个基因

Mohan, Shruthi; McNulty, Shannon; Thaxton, Courtney; Elnagheeb, Marwa; Owens, Emma; Flowers, May; Nunnery, Teagan; Self, Autumn; Palus, Brooke; Gorokhova, Svetlana; Kennedy, April; Niu, Zhiyv; Johari, Mridul; Maiga, Alassane Baneye; Macalalad, Kelly; Clause, Amanda R; Beckmann, Jacques S; Bronicki, Lucas; Cooper, Sandra T; Ganesh, Vijay S; Kang, Peter B; Kesari, Akanchha; Lek, Monkol; Levy, Jennifer; Rufibach, Laura; Savarese, Marco; Spencer, Melissa J; Straub, Volker; Tasca, Giorgio; Weihl, Conrad C

The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships

ClinGen综合征疾病基因注释专家组:评估111个基因-疾病关系的临床有效性

Broeren, Eleanor; Gitau, Vanessa; Byrne, Alicia; Ajuyah, Pamela; Balzotti, Marie; Berg, Jonathan; Bluske, Krista; Bowen, B Monica; Brown, Matthew P; Buchanan, Amanda; Burns, Brendan; Burns, Nicole J; Chandrasekhar, Anjana; Chawla, Aditi; Chong, Jessica; Chopra, Maya; Clause, Amanda; DiStefano, Marina; DiTroia, Stephanie; Elnagheeb, Marwa; Girod, Amanda; Goel, Himanshu; Golden-Grant, Katie; Ha, Thuong; Hamosh, Ada; Huang, Jennifer; Hughes, Madeline; Jamuar, Saumya; Kam, Sylvia; Kesari, Akanchha; Koh, Ai Ling; Lassiter, Rhonda; Leigh, Sarah; Lemire, Gabrielle; Lim, Jiin Ying; Malhotra, Alka; McCurry, Hannah; Milewski, Becky; Moosa, Shahida; Murray, Stephen; Owens, Emma; Palmer, Emma; Palus, Brooke; Patel, Mayher; Rajkumar, Revathi; Ratliff, Julie; Raymond, F Lucy; Assis, Bruno Della Ripa Rodrigues; Sajan, Samin; Schlachetzki, Zinayida; Schmidt, Sarah; Stark, Zornitza; Strom, Samuel; Taylor, Julie; Thaxton, Courtney; Thrush, Devon; Toro, Sabrina; Tshering, Kezang; Vasilevsky, Nicole; Wayburn, Bess; Webb, Ryan; O'Donnell-Luria, Anne; Coffey, Alison J

Early life exposure to vitamin D deficiency impairs molecular mechanisms that regulate liver cholesterol biosynthesis, energy metabolism, inflammation, and detoxification

早期生命中接触维生素 D 缺乏会损害调节肝脏胆固醇生物合成、能量代谢、炎症和解毒的分子机制

Megan M Knuth, Jing Xue, Marwa Elnagheeb, Raad Z Gharaibeh, Sarah A Schoenrock, Susan McRitchie, Cory Brouwer, Susan J Sumner, Lisa Tarantino, William Valdar, R Scott Rector, Jeremy M Simon, Folami Ideraabdullah

Clinical testing panels for ALS: global distribution, consistency, and challenges

肌萎缩侧索硬化症(ALS)临床检测组合:全球分布、一致性及挑战

Dilliott, Allison A; Al Nasser, Ahmad; Elnagheeb, Marwa; Fifita, Jennifer; Henden, Lyndal; Keseler, Ingrid M; Lenz, Steven; Marriott, Heather; Mccann, Emily; Mesaros, Maysen; Opie-Martin, Sarah; Owens, Emma; Palus, Brooke; Ross, Justyne; Wang, Zhanjun; White, Hannah; Al-Chalabi, Ammar; Andersen, Peter M; Benatar, Michael; Blair, Ian; Cooper-Knock, Johnathan; Harrington, Elizabeth A; Heckmann, Jeannine; Landers, John; Moreno, Cristiane; Nel, Melissa; Rampersaud, Evadnie; Roggenbuck, Jennifer; Rouleau, Guy; Traynor, Bryan; Van Blitterswijk, Marka; Van Rheenen, Wouter; Veldink, Jan; Weishaupt, Jochen; Drury, Luke; Harms, Matthew B; Farhan, Sali M K

Maternal Liver Metabolic Response to Chronic Vitamin D Deficiency Is Determined by Mouse Strain Genetic Background

母体肝脏对慢性维生素D缺乏的代谢反应取决于小鼠品系遗传背景

Xue, Jing; Hutchins, Elizabeth K; Elnagheeb, Marwa; Li, Yi; Valdar, William; McRitchie, Susan; Sumner, Susan; Ideraabdullah, Folami Y

Maternal Microdeletion at the H19/Igf2 ICR in Mice Increases Offspring Susceptibility to In Utero Environmental Perturbation

小鼠 H19/Igf2 ICR 处的母体微缺失会增加后代对宫内环境干扰的敏感性

Anandita Pal, Judy Oakes, Marwa Elnagheeb, Folami Y Ideraabdullah

Intergenerational response to the endocrine disruptor vinclozolin is influenced by maternal genotype and crossing scheme

对内分泌干扰物vinclozolin的代际反应受母体基因型和杂交方案的影响

Edward W Pietryk, Kiristin Clement, Marwa Elnagheeb, Ryan Kuster, Kayla Kilpatrick, Michael I Love, Folami Y Ideraabdullah