通过单细胞技术解码肿瘤异质性

脂代谢异常致盲机制

本地化高通量测序平台提高儿童遗传病诊治效率

休息

中国医学遗传体系的何去何从

“女娲”重复元件变异图谱助力遗传病研究诊疗

中国人完整基因组图谱构建及应用

基于CDGC大型耳聋队列对致聋基因与疾病关系重分类

口腔遗传病的基础研究和临床遗传咨询

胎儿生长受限（FGR）合并结构畸形胎儿的病因学评估和妊娠结局分析

MT-TL1基因m.3243位点变异引起的DMDF且伴小脑萎缩患者的临床报道及文献回顾

加强版WES从设计源头提高罕见病变异检出率

靶向高通量测序在临床检测中的应用探索

SMA精准诊疗和三代测序的研究应用

靶向测序和全外显子测序在8417名眼遗传病患者基因检测中的比较

Increased fetal fraction is associated with the incidence of birth weight discordance and selective fetal growth restriction

Sequential genetic testing and prenatal-postnatal multidimensional predictive indicators in fetal congenital diaphragmatic hernia

隐匿复杂碎裂染色体重排携带者的生育风险评估

Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families

吉林省乳腺癌/卵巢癌患者BRCA基因变异特征

非综合征型先天缺牙致病基因的筛查和功能研究

NUT Carcinoma of the Head and Neck: A Clinicopathologic Study of 18 Cases with Genetic Analysis

遗传性共济失调致病基因AFG3L2突变功能的研究

Wnt和Myc信号调控与视网膜血管病变

NRDE2缺陷损害DNA修复能力并促进肝细胞癌对PARP抑制剂的敏感性

Cytotoxic CD161-CD8+ TEMRA cells contribute to the pathogenesis of systemic lupus erythematosus

长读长测序时代的遗传疾病研究

增强版全外显子组测序临床使用体验及案例分享

ADAM17基因变异通过E3泛素连接酶TRIM47介导的降解导致遗传性少毛症

Germline TRAF7 Variants Activating RAS-MAPK-ERK1/2 Signal Cause CAFDADD Syndrome

N-羟乙酰神经氨酸干扰胚胎发育和着床

基于饱和突变技术高通量解析地贫蛋白稳定性受单氨基酸变异的影响

全转录组关联分析结合eQTL共定位分析鉴定新的鼻咽癌遗传易感基因

系统性红斑狼疮患者中自身抗体谱与遗传多样性的相关性研究

HLF regulates CYP3A5 gene expression in liver

Novel homozygous ADK Out-of-Frame Deletion Causes Adenosine Kinase Deficiency with Rare Phenotypes of Sepsis, Metabolites Disruption and Neutrophil Dysfunction

等位基因特异性表达转换介导同卵双生子对表型变异的表观遗传调控机制

遗传性疾病精准诊治

先天性上睑下垂致病基因与骨骼肌发育的关系及作用机制研究

Frameshift variants in the C-terminal of CTNNB1 cause familial exudative vitreoretinopathy by AXIN1-mediated ubiquitin-proteasome degradation condensation

Recurrent gene flow between Neanderthals and modern humans over the past 200,000 years

全外显子组测序在遗传疾病诊断中的应用

Copynumber variation analysis of 25,000 fetuses in southern China: Aretrospective study

非编码区结构变异介导三维基因组改变导致罕见型虹膜缺损

SMC3在心脏发育中的功能及分子机制研究

miR-6089 alleviates inflammation and cell apoptosis through modulating the TLR4 pathway in allergic rhinitis

Identification of LRRC46 as a novel candidate gene for high myopia

AAV介导的C1orf194基因治疗该基因缺陷导致的CMT小鼠模型研究

丝氨酸蛋白酶PRSS56非编码突变致先天性高度近视的机理

5个新发现的SOX10基因顺势调控元件杂合缺失导致Waardenburg综合征

A homozygous variant in INTS11 links mitosis and neurogenesis defects to a severe neurodevelopmental disorder

NAMPT蛋白39位半胱氨酸突变通过还原应激导致雄性小鼠不育

微环境对干细胞命运的影响

浅谈医学遗传学学科缘起和发展

新型细胞免疫治疗研究与临床转化

休息

雄激素与性别差异和疾病

造血干细胞研究新范式

从遗传的角度思考神经系统常见病

孤独症基因组医学研究

可变剪接与人类疾病：现状与展望

Global trends of molecular dynamics applications in mutation analysis research over 10 years: A bibliometric analysis and case study

Clinical Experience of the Expanded Carrier Screening for Recessive Genetic Diseases in a Large-Scale Cohort Study in Southern Central China

面肩肱型肌营养不良症患者的血清神经丝轻链筛查

神经系统发育障碍性疾病基因治疗的探索性研究

中国青少年肥厚梗阻型心肌病患者的临床和遗传学特征

EYA1 基因 CNVs 在耳聋患者中的发生频率及临床特征

Chromosome classification via deep learning and its application to patients with structural abnormalities of chromosomes

罕见中的罕见：同患两种罕见遗传病患者18例

GH-IGF-1轴相关基因变异致身材矮小10例临床与遗传学分析

全基因组甲基化芯片诊断遗传病：来自中国患者队列的初步实践

基于耳聋人群队列对听力损失基因的临床准确性评估

RNA剪接调控机制及靶向干预策略

东亚人群演化启发的精准医疗

Pin1 exacerbates nonalcoholic fatty liver disease by enhancing its activity through binding to ACC1

lnc-TSSK2-8通过调控线粒体功能与稳态导致先心病发生的机制

Activation of γ-globin expression by LncRNA-mediated ERF promoter hypermethylation in β-thalassemia

Signaling mechanisms governing early craniofacial develoment and genetic defects underling OFCs

MODY新致病基因Isl-1的发现与研究：揭秘单基因糖尿病治疗新靶点

新型VDDR致病基因的发现及其功能的鉴定和研究

Single-cell RNA sequencing revealed up-regulation of MHC class-II gene expression in dendritic cells in patients with ankylosing spondylitis

单质子转移诱发碱基突变的理论计算与实验验证

Defective tRNA post-transcriptional modification dysregulated mitochondrial homeostasis in Leber’s hereditary optic neuropathy

Single-cell RNA-sequencing reveals the transcriptional landscape of ND-42 mediated spermatid elongation via mitochondrial derivative maintenance

A Homozygous Variant in NAA60 is Associated with Primary Familial Brain Calcification

闭幕式总结

m6A修饰参与的肝脏炎癌微环境构建

人类原代细胞基因编辑及其转化研究

SMEK1缺失通过激活AMPK通路改善肥胖相关的代谢紊乱

琥珀酸半醛脱氢酶缺乏症：探讨ALDH5A1变异与SSADH蛋白分子效应的关系

A genetic mouse model for premature hepatic aging, fibrosis and hepatocellular carcinogenesis

突变隐匿3'受体剪接位点纠正异常剪切缺陷治疗β654地贫小鼠

Identification of a SNP Associated with Elevated Hb F Levels in β-Thalassemia Patients: Implications for Therapy

Deficiency of Shroom3 Delays Kidney Development Process and Increases Susceptibility to Injury

How E3 ligase FBXW4 regulates phase separation of CCT5 for short stature occurence

Pathogenic Mechanism Study of Familial Cortical Myoclonic Tremor with Epilepsy Type 1 Caused by Pentanucleotide Repeat Expansion in the SAMD12 Gene

TMEM215通过代谢重编程调控内皮细胞黏附分子表达参与肿瘤转移的作用及机制研究

Six1调控下颌骨-切牙复合体发育和牵引成骨治疗的机制研究

Pin1 Downregulation is Involved in Excess Retinoic Acid-induced Failure of Neural Tube Closure