未登录

D

D.N. Cooper

Cardiff University

H指数:119

被引数:10.0万

个人简介

暂无内容

教育背景

暂无内容

工作经历

暂无内容

荣誉奖项

暂无内容

A POMT2 missense substitution contributes to hypoxia adaptation in hibernating mammals

POMT2错义突变对冬眠哺乳动物低氧适应的贡献

Molecular Biology and Evolution

IF5.3

2026-02-010

PRE

Expanding the utility of variant effect predictions with phenotype-specific models

扩展基于表型特异性模型的变异效应预测的应用性

Nature Communications

IF15.7

2025-11-280

OAAI

SPINK1-related chronic pancreatitis: A model that encapsulates the spectrum of variant effects, genetic complexity, and classificatory challenges

SPINK1相关的慢性胰腺炎：一个涵盖变异效应谱、遗传复杂性和分类挑战的模型

american journal of human genetics

IF0

2025-08-210

PRE

Integrating gene mutation spectra from tumors and the general population with gene expression topological networks to identify novel cancer driver genes

整合来自肿瘤和一般人群的基因突变谱与基因表达拓扑网络以识别新的癌症驱动基因

IF3.6

2025-06-140

PRE

Regional and aging-specific cellular architecture of non-human primate brains

非人灵长类大脑的区域性和年龄特异性细胞结构

GENOME MEDICINE

IF11.2

2025-04-280

OA

A combination of transcriptomics and epigenomics identifies genes and regulatory elements involved in embryonic tail development in the mouse

转录组学与表观基因组学的结合识别了小鼠胚胎尾发育过程中涉及的基因和调控元件。

IF4.5

2025-03-260

OA

Critical assessment of missense variant effect predictors on disease-relevant variant data

IF3.6

2025-03-011

OAAI

Rastogi, Ruchir; Chung, Ryan; Li, Sindy; Li, Chang; Lee, Kyoungyeul; Woo, Junwoo; Kim, Dong-Wook; Keum, Changwon; Babbi, Giulia; Martelli, Pier Luigi; Savojardo, Castrense; Casadio, Rita; Chennen, Kirsley; Weber, Thomas; Poch, Olivier; Ancien, Francois; Cia, Gabriel; Pucci, Fabrizio; Raimondi, Daniele; Vranken, Wim; Rooman, Marianne; Marquet, Celine; Olenyi, Tobias; Rost, Burkhard; Andreoletti, Gaia; Kamandula, Akash; Peng, Yisu; Bakolitsa, Constantina; Mort, Matthew; Cooper, David N.; Bergquist, Timothy; Pejaver, Vikas; Liu, Xiaoming; Radivojac, Predrag; Brenner, Steven E.; Ioannidis, Nilah M.

Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data

使用三外显子组测序数据破译先天性心脏病的双基因结构

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2025-02-011

PRE

Polymorphic pseudogenes in the human genome - a comprehensive assessment

IF3.6

2024-11-020

OAAI

Expanding drug targets for 112 chronic diseases using a machine learning-assisted genetic priority score

NATURE COMMUNICATIONS

IF15.7

2024-10-150

OAAI

Alu insertion-mediated dsRNA structure formation with pre-existing Alu elements as a disease-causing mechanism

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2024-10-011

PRE

Accurate identification fi cation of genes associated with brain disorders by integrating heterogeneous genomic data into a Bayesian framework

通过将异质基因组数据整合到贝叶斯框架中，准确识别与脑部疾病相关的基因

IF10.8

2024-09-010

OAAI

VCAT: an integrated variant function annotation tools

VCAT: 一个集成的变体功能注释工具

IF3.6

2024-08-270

PRE

SEC16A Variants Predispose to Chronic Pancreatitis by Impairing ER-to-Golgi Transport and Inducing ER Stress

ADVANCED SCIENCE

IF14.1

2024-08-090

OA

NextDenovo: an efficient error correction and accurate assembly tool for noisy long reads

NextDenovo: 一种有效的纠错和精确的组装工具，用于嘈杂的长读数

IF9.4

2024-04-2640

OAAI

Genetic evidence for T-wave area from 12-lead electrocardiograms to monitor cardiovascular diseases in patients taking diabetes medications

IF3.6

2024-03-200

OA

Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease

IF4.3

2024-02-232

OAAI

Divergent Evolutionary Rates of Primate Brain Regions as Revealed by Genomics and Transcriptomics

基因组学和转录组学揭示的灵长类动物大脑区域的不同进化速率

GENOME BIOLOGY AND EVOLUTION

IF2.8

2024-02-050

OAAI

Deciphering the Role of Rapidly Evolving Conserved Elements in Primate Brain Development and Exploring Their Potential Involvement in Alzheimer's Disease

解读快速进化的保守元素在灵长类动物大脑发育中的作用，并探索其在阿尔茨海默病中的潜在参与

MOLECULAR BIOLOGY AND EVOLUTION

IF5.3

2024-01-041

OAAI

Development of a human genetics-guided priority score for 19,365 genes and 399 drug indications

NATURE GENETICS

IF31.8

2024-01-034

PRE