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Mingyan Fang

BGI Research
H指数:28
被引数:3,063

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The Genome Atlas of 1,020 Probands and 409 Unaffected Parents Decodes the Clinical Heterogeneity in β-thalassemia

1020例先证者和409例健康父母的基因组图谱揭示β-地中海贫血的临床异质性

2026-11-020
OAAI
A Chinese pediatric patient with thalassemia traits and compound heterozygous mutations in the PIEZO1 gene suspected of having dehydrated hereditary stomatocytosis

一名具有地中海贫血特征和PIEZO1基因复合杂合突变的中国儿科患者,疑似患有脱水的遗传性口形红细胞增多症。

2025-12-310
PRE
Identification of a Patient with Transfusion-Dependent β-Thalassemia Caused by Compound Heterozygous Mutations of HBB: C.84_85insC and Common Linked Intronic Variants in HBB

一例因HBB基因复合杂合突变(C.84_85insC及常见的连锁内含子变异)导致的输血依赖性β-地中海贫血患者的鉴定

2025-12-010
PRE
Shared genetic features inference among hypoxia-ischemia diseases in the presence of heterogenous omics data based on a novel risk assessment method

基于新型风险评估方法,在存在异质性组学数据的情况下,对缺氧-缺血性疾病中共享遗传特征的推断。

2025-04-280
OA
An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants
2024-08-010
OA
Age-dependent changes in the gut microbiota and serum metabolome correlate with renal function and human aging
2023-11-279
OAAI
A population-based study of precision health assessments using multi-omics network-derived biological functional modules
2022-12-013
OAAI
A pilot study of assessing whole genome sequencing in newborn screening in unselected children in China
2022-06-0517
OAAI
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing
2022-01-0110
OAAI