arrow
Weimin Bi 封面图

Weimin Bi

Baylor College of Medicine副教授
H指数:58
被引数:1.3万

个人简介

暂无内容

教育背景

  • 2000.01

    University Of Texas Medical School At Houston PhD

  • 1997.01

    University Of Texas At Houston MS

  • 1991.01

    Wuhan University BS

工作经历

暂无内容

荣誉奖项

暂无内容

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
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder

致病性XPO1变异导致显性神经发育障碍

2025-08-130
OAAI
RAB1A haploinsufficiency phenocopies the 2p14-p15 microdeletion and is associated with impaired neuronal differentiation
2023-12-012
OAAI
Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity
2023-05-054
OAAI
Alternative polyadenylation alters protein dosage by switching between intronic and 3′UTR sites
2023-02-179
OAAI
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions
2022-12-019
OAAI
Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations
2022-10-0121
OA
Recurring germline mosaicism in a family due to reversion of an inherited derivative chromosome 8 from an 8;21 translocation with interstitial telomeric sequences

由于遗传的衍生染色体8从8;21易位与间质端粒序列

2022-09-230
PRE
Retrospective analysis of a clinical exome sequencing cohort reveals the mutational spectrum and identifies candidate disease-associated loci for BAFopathies
2022-02-0110
OAAI
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
2021-07-0111
OAAI
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity

CSNK2B: 广泛的神经发育障碍和癫痫严重程度

2021-05-2620
OAAI
RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes
2021-02-178
OAAI
Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease
2020-10-0511
OAAI
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

CNVs引起常染色体隐性遗传疾病,无论是否涉及SNV/indels

2020-10-0138
OAAI
Pathogenic variants inTNRC6Bcause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD

致病性变异intnrc6引起一种遗传性疾病,其特征是发育迟缓/智力障碍和一系列神经行为表型,包括自闭症和多动症

2020-03-0919
PREAI
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

BAZ2B单倍体不足是发育迟缓,智力障碍和自闭症谱系障碍的原因

2020-02-0714
OAAI