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

Integrative exome sequencing and machine learning identify MICB and interferon pathway genes as contributors to SSc risk

整合外显子组测序和机器学习技术发现,MICB 和干扰素通路基因是系统性硬化症风险的促成因素。

Ketkar, Shamika; Dai, Hongzheng; Burrage, Lindsay; Murdock, David; Dawson, Brian; Acosta-Herrera, Marialbert; Kerick, Martin; Martin, Javier; Wilhelm, Kevin; Asmussen, Jennifer Kay; Lichtarge, Olivier; Center, Regeneron Genetics; Assassi, Shervin; Mayes, Maureen D; Lee, Brendan H

Meta-evolutionary exome analysis identifies novel type 2 diabetes mellitus genes in the UK Biobank and all of us

元进化外显子组分析在英国生物银行中发现了新的2型糖尿病基因,我们所有人都是如此。

Wilhelm, Kevin; Asmussen, Jennifer; Lee, Kwanghyuk; Samieinasab, Maryam; Asante, Emmanuel; Kimmel, Marek; Lichtarge, Olivier

Ramipril therapy in integrin α1-null, autosomal recessive Alport mice triples lifespan: mechanistic clues from RNA-seq analysis.

雷米普利治疗整合素α1缺失的常染色体隐性遗传Alport小鼠可延长寿命三倍:来自RNA测序分析的机制线索

Madison Jacob, Wilhelm Kevin, Meehan Daniel T, Gratton Michael Anne, Vosik Denise, Samuelson Gina, Ott Megan, Fascianella John, Nelson Noa, Cosgrove Dominic

Evolutionary Theory and Machine Learning: New Inroads Into Sex‐specific AD Susceptibility Genes and Pathways Significantly Improve Risk Prediction

进化论与机器学习:性别特异性阿尔茨海默病易感基因和通路研究的新进展显著提高了风险预测能力

Perlova, Ksenia; Schmidt, Claudia C; Fink, Gereon R; Weiss, Peter H; Zhao, Pinghan; Fadel, Omar El; Le, Anh; Mangleburg, Carl Grant; Wu, Timothy; Dhindsa, Justin; Amoh, Bismark K; Marella, Aditi Sai; Li, Yarong; Seyfried, Nicholas T; Levey, Allan I; Liu, Zhandong; Al‐Ramahi, Ismael; Botas, Juan; Shulman, Joshua M; Li‐Kroeger, David; Al‐Ramahi, Ismael; Smith, Nathaniel; Marella, Aditi; Amoh, Bismark K; Saladi, Saathwik; Botas, Juan; Seyfried, Nicholas T; Levey, Allan I; Shulman, Joshua M; Al‐Ramahi, Ismael; Asmussen, Jenn; Botas, Juan; Katsonis, Panagiotis; Lagiesetty, Yashwanth; Lee, Kwanghyuk Danny; Nazem, Fatemeh; Samieinasab, Maryam; Wang, Chen; Wilhelm, Kevin; Lichtarge, Olivier

Functional variants identify sex-specific genes and pathways in Alzheimer's Disease

功能性变异可识别阿尔茨海默病中性别特异性基因和通路

Bourquard, Thomas; Lee, Kwanghyuk; Al-Ramahi, Ismael; Pham, Minh; Shapiro, Dillon; Lagisetty, Yashwanth; Soleimani, Shirin; Mota, Samantha; Wilhelm, Kevin; Samieinasab, Maryam; Kim, Young Won; Huh, Eunna; Asmussen, Jennifer; Katsonis, Panagiotis; Botas, Juan; Lichtarge, Olivier

NBSTRN Tools to Advance Newborn Screening Research and Support Newborn Screening Stakeholders

NBSTRN 工具助力推进新生儿筛查研究并支持新生儿筛查利益相关者

Chan, Kee; Hu, Zhanzhi; Bush, Lynn W; Cope, Heidi; Holm, Ingrid A; Kingsmore, Stephen F; Wilhelm, Kevin; Scharfe, Curt; Brower, Amy

Genome interpretation using in silico predictors of variant impact

利用计算机模拟预测变异影响进行基因组解读

Katsonis, Panagiotis; Wilhelm, Kevin; Williams, Amanda; Lichtarge, Olivier

Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions

利用长期随访数据对新生儿筛查疾病中的遗传变异进行分类

Wilhelm, Kevin; Edick, Mathew J; Berry, Susan A; Hartnett, Michael; Brower, Amy