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C

Christopher E. Pearson

universidade federal do rio grande do sul
H指数:53
被引数:1.1万

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Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes

全基因组测序揭示了关于9p染色体综合征在个体和群体层面的见解

2025-10-260
OAAI
FGF14 repeat length and mosaic interruptions: modifiers of spinocerebellar ataxia 27B?

<i>FGF14</i> 重复长度和嵌合中断:脊髓小脑共济失调27B的修饰因子?

BRAIN
IF11.7
2025-10-011
OAAI
Autism-related traits in myotonic dystrophy type 1 model mice are due to MBNL sequestration and RNA mis-splicing of autism-risk genes

1型肌强直性营养不良模型小鼠的孤独症相关特征是由于MBNL的捕获和孤独症风险基因的RNA错误剪接。

2025-04-210
OA
Mutant huntingtin induces neuronal apoptosis via derepressing the non-canonical poly(A) polymerase PAPD5

突变亨廷蛋白通过去抑制非经典聚腺苷酸化聚合酶PAPD5诱导神经元凋亡

2025-04-090
OA
Huntingtin is an RNA binding protein and participates in NEAT1-mediated paraspeckles
2024-07-190
OAAI
Genome-wide enhancer-associated tandem repeats are expanded in cardiomyopathy

在心肌病中扩展了全基因组增强子相关的串联重复序列

2024-03-012
OAAI
Genome-wide tandem repeat expansions contribute to schizophrenia risk

全基因组串联重复扩增导致精神分裂症风险

2022-05-1221
OAAI
Mosaic divergent repeat interruptions in XDP influence repeat stability and disease onset
BRAIN
IF11.7
2022-04-2712
OAAI
A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo
2020-02-14103
OAAI