开幕式致辞

血浆核酸片段组学的新发展

流产遗传学

Integrating multiscale biomarkers for brain disease prediction

休息

第二极体参与双受精的遗传学分析及其在嵌合个体鉴定中的应用

癫痫的遗传学研究进展

基于分子诊断的聋病精准诊疗进展

NARFL敲除致铁死亡在血管内皮功能障碍中的作用和机制

Lipoprotein(a) Concentration, Kringle IV-2 Repeat Copy Number, and Myocardial Infarction Risk in Chinese Populations: Insights from the INTERHEART China Study

美多芭治疗TH基因变异所致酪氨酸羟化酶缺乏症的8年临床经验——单中心回顾性队列研究

Genotype–phenotype correlation of CHD8 variants in a Chinese cohort: the largest case series to date

Advances and Challenges in the Application of Long-Read Sequencing for the Molecular Diagnosis of Mitochondrial Diseases

三代HiFi人类全基因组测序的临床应用

超越“蚕豆病”：G6PD基因检测在多学科诊疗中的隐匿角色与全程管理价值

综合性携带者筛查在辅助生殖人群的应用

休息

Osteogenesis Imperfecta Type V: Clinical Characteristics and Long-term Efficacy Analysis of Bisphosphonates: A Retrospective Study of 143 Chinese Patients with 8.2-Year Follow-up

A novel splice variant in the COL1A1 gene leads to exon 46 skipping and osteogenesis imperfecta

短暂性产前巴特综合征5型2例胎儿临床表型和遗传病因分析

Chromosomal Structural Abnormalities and Tissue-Specific Mosaicism: Insights of False-Negative Noninvasive Prenatal Testing

产前无创筛查的临床应用以及特殊病例分享

Establishment of Biological Reference Intervals for Coagulation Indicators in Pregnancy Using a Non-parametric Approach

Genetic diagnosis in fetuses with biliary tract system abnormalities: a meta-analysis and systematic review

全外显子组测序技术在胎儿泌尿系统异常中的应用

Prenatal Whole-Exome Sequencing in Isolated Mild-to-Moderate Ventriculomegaly: Assessing Clinical Utility

The association between early pregnancy infection with SARS-CoV-2 and fetal birth defects: a prospective study

携带MYL2 R58Q突变的肥厚型梗阻性心肌病临床特征及猝死风险研究

靶向miRNA重塑巨噬细胞功能在炎症性疾病中的作用和应用研究

KRT9变异掌跖角化症致病机制及关键信号分子的研究

全外检测中CNV分析的准确性评价

RNA分析联合三代测序揭示黏多糖贮积症Ⅱ型患者IDS基因内含子倒位

关于脊髓小脑共济失调中动态突变的遗传阻断策略和遗传咨询

Establishment of a Neonatal Facial Phenotype Atlas for Genetic Disease Screening in a Retrospective Chinese Cohort

73例先天性肾脏和尿路畸形胎儿的遗传学特征分析

长读长及多组学测序在遗传病诊断中的应用

长读长测序技术在地贫诊断的应用

休息

NIPS低风险人群中胎儿非整倍体和致病性拷贝数变异的残余风险——基于真实世界的队列研究

Integrated structural and functional analysis supports classification of novel ABCD1 missense variants in X-linked adrenoleukodystrophy: A prospective Chinese cohort study

Prenatal ultrasound soft markers as predictors of fetal chromosomal abnormalities

组学检测在复发性流产遗传学病因分析及临床决策中的应用价值

广西地区非综合征性聋全基因组测序致聋基因鉴定的研究

全外显子测序在儿童骨骼发育不良精准诊断中的应用价值：180例患儿与13个致病基因谱

Genetic Architecture and Genotype-Phenotype Associations in Chinese CH Children with Gland-in-Situ: A Trio-WES Based Longitudinal Study

多技术联合应用于一例新型α珠蛋白四联体（αααα¹⁵⁹）复合β杂合变异导致重症贫血的分子诊断

Correcting PVS1 Overestimation: Clinical Insights into Rescue Transcripts and Variant Reclassification in 4 Prenatal Cases

全外显子测序在智力障碍病因诊断中的应用研究 ——基于185例温州地区患者的分析

Wide-field Digital Retinal Photography in 10,330 Newborns: Prevalence, Risk Factors and Clinical Implications in a Large Chinese Cohort

海南省新生儿先天性甲状腺功能减低症遗传图谱解析

Genetic Architecture of Folate, Vitamin B12 and Homocysteine Traits in Pregnant Chinese Women

From Gametes to Blastocyst: A Single-Nucleus Resolution Blueprint of Chromatin Reprogramming Underlying the Initiation of Life

Prenatal and postnatal manifestations of WBP11-related disorder in Chinese patients: expanding the phenotypic and mutational spectrum

单细胞与空间转录组学揭示PMEPA1作为二尖瓣退行性病变的关键负调控因子

NOTCH3基因非半胱氨酸变异患者病理研究

TRPV4基因意义不明变异位点致病性评估体系的建立及应用

血清代谢重编程揭示佩梅病能量代谢缺陷与临床亚型异质性

基于全外显子组测序（WES）检测遗传病CNV的质控分析

休息

A Novel Heterozygous SOCS1 Variant Causes Systemic Lupus Erythematosus in a Large Chinese Pedigree

肝脏靶向IDS基因整合修复在黏多糖贮积症Ⅱ型小鼠中的治疗研究

Angelman综合征发育早期认知和睡眠干预研究

DDOD综合征患者来源iPSC系类毛细胞模型构建及基因纠正研究

COL4A2相关耳蜗毛细血管基底膜功能障碍及微循环紊乱导致常染色体显性遗传性耳聋综合征

Study on the alleviation of iron overload and oxidative stress in β-thalassemia mice by riboflavin derived from Lactobacillus plantarum

MAML1液液相分离在心脏发育及先天性心脏病中的机制研究

GH-IGF-1轴失调的病理机制研究进展：肢端肥大症、代谢紊乱与肿瘤的共有关联

Targeted Long-Read Sequencing Bridges the Detection Gap in Carrier Screening: a Hybrid Strategy for Clinically Actionable and Cost-Effective Detection of Complex Variants

Noninvasive prenatal testing for single-gene disorders can be falsely positive due to maternal mosaicism and errors in genotype calling

TBX2非编码变异驱动的三维空间构象在先天性耳聋中的作用与机制研究

Alternative splicing of secretin receptor drives the occurrence of pancreatic ductal adenocarcinoma

结节性硬化症基因型-表型相关性分析及果蝇模型验证

151例儿童原发性肾小管酸中毒临床分析

Interferon-driven cholangiocyte injury links biliary atresia with SARS-CoV-2 associated hepatobiliary damage: an integrative multi-omics study

细胞命运可塑性的遗传基础与调控机制

Tmem30b介导的耳蜗外毛细胞顶端膜稳态对听觉形成至关重要

KIF11 prevents retinal endothelial ferroptosis in familial exudative vitreoretinopathy by inhibiting phosphorylation-driven PRDX1 phase separation

Glia-derived lipid metabolites drive pathological angiogenesis in ischemic retinopathy

X-linked SYTL4 missense variant disrupt RAB27A-dependent vesicle trafficking and synaptic transmission in autism

EFTUD2突变介导NIPBL异常剪接驱动下颌骨发育不良伴小头畸形综合征的分子机制研究

Uncoupled CD8+ T Cell Activation and FAS-L Mediated Pathogenesis in a Seronegative IPEX-like Syndrome Driven by a Novel FOXP3 splice-site mutation (IVS10+1G>A)

利用碱基编辑器治疗β654地贫小鼠的研究

LINC01480 strengthens the STAT3/PRL-3 positive feedback loop to promote multiple myeloma progression

休息

膜蛋白KIDINS220调控AKT2通路重塑白色脂肪细胞代谢表型改善胰岛素抵抗

SCARF2基因突变通过影响BMP信号通路导致Van den Ende-Gupta综合征先天颅面畸形的机制研究

乳酸代谢重编程调控红白血病脾脏肿大的机制研究

HLF 调节人肝细胞中 CYP3A5 的表达

罕见EDA基因5'UTR区变异导致少汗型外胚层发育不良：一种uAUG介导的翻译调控机制

PRSS56基因变异与高度近视发生的系统性评估及干预策略开发

基于分子动力学模拟探究 SLCO2A1 基因点突变对其蛋白产物结构与功能的影响

WTAP-Mediated m6A Modification Preserves Retinal Photoreceptor Function Through Translational Regulation of REEP6, PDE6B, and RDH12

BLIMP1通过促进HsCDC6表达影响肿瘤进展的作用及机制研究

转录因子SIX1通过调控DLX家族调控牙胚间充质干细胞成牙分化的机制研究

NUSAP1 Mutations Induce Primary Microcephaly via KIF2C and Neural Stem/Progenitor cell Dysregulation

In vivo Prime Editing Rescues Glycogen Storage Disease Type Ia in Humanized Mice with G6PC1 c.648G>T

基于全基因组测序数据分析阿尔茨海默病生物标志物的遗传学基础

基于中国不同民族永生细胞库的GWAS研究揭示呼吸道合胞病毒遗传易感性新机制

从DNA第五碱基到健康长寿

Harness natural deaminase enzymes to enable precise base editing for therapeutics

线粒体胶囊移植缓解重大疾病的功能障碍

休息

阿尔茨海默病机理与治疗

在“盲区”中找寻光亮——DeepRare临床实战

突破自动化检测瓶颈，奠定精准诊断基石

认知障碍疾病遗传学新机制探索

内耳可变剪接图谱解析组织特性与疾病机制

Clinical Performance Evaluation of Size-Selective Fetal cell-free DNA Enrichment for Non-Invasive Prenatal Testing of Fetal Copy Number Variants

The Association Analysis Between Glucose-6-Phosphate Dehydrogenase Deficiency and Susceptibility to Common Diseases in Children

Novel GCH1 Variants and Decade-Long Follow-up in Chinese Pediatric Dopa-Responsive Dystonia

Spectrum and classification of CFTR and ADGRG2 variants in Chinese patients with isolated CAVD: a large cohort study and risk assessment of CFTR variant carriage in couples

Analysis of the Plasma Cell-Free DNA Virome in a Cohort of 24330 Pregnant Women from the Dongguan Region

基于机器学习算法的供精人工授精临床妊娠预测模型研究

Carrier Screening for survival motor neuron variants in 7709 Pregnant Women from Foshan, Guangdong Province

神经系统变性病的遗传机制

Genetic basis of pregnancy-associated decreased platelet counts and gestational thrombocytopenia

PAX1基因新发杂合变异拓展耳-面-颈综合征2型基因型与临床表型谱

中国南方211例儿童Prader-Willi综合征遗传学研究

两种分子遗传技术联合应用快速分析流产组织染色体异常

Clinical Application of Preconception Expanded Carrier Screening in Populations Requiring Assisted Reproductive Technology

Clinical outcomes of preimplantation genetic testing for structural rearrangements in couples with chromosomal inversions: a retrospective analysis

Recurrent Paroxysmal Neurological Deficits in a 12-Year-Old Girl: A Case Report of Primary Central Nervous System Vasculitis Overlapping with MOG Antibody-Associated Disease

Clinical Utility of Copy Number Variant Analysis Using Whole-Exome Sequencing Data: A Retrospective Study

胚胎发育的表观遗传学基础

血液遗传病基因治疗

伴海马硬化的颞叶癫痫患者海马单细胞空间转录组图谱绘制

Allele-Specific Methylation Links Non-Coding Variant of rs2280906 to MYOM2 Regulation in Schizophrenia

糖尿病的遗传学特征分析

抗精神病药物引发药源性代谢综合征相关分子标志物多组学研究

面肩肱型肌营养不良症甲基化检测在表观遗传学诊断中的应用价值

81例尿素循环障碍中国儿童治疗现状分析

胎儿脊柱异常的遗传学病因研究

选择性多聚腺苷酸化与卵巢衰老

基于全外显子测序技术探究VKH综合征遗传易感性

Cone subtypes composition shift combined with changes on phototransduction due to ARR3 variants-induced cone mosaicism

Roles of MID1/MID2 in Early Craniofacial Development and the Molecular Mechanisms Underlying Craniofacial Malformations

A medium throughput approach for single cell copy number variation sequencing towards efficient application in clinics

巨噬细胞来源的ONOO-硝化AQP9引起母胎界面乳酸代谢紊乱导致复发性流产的机制研究

Genetic Dissection of Clinical Heterogeneity in Hemoglobin H Patients by Targeted Long-Read Sequencing

WDR73 Deficiency Causes Progressive Cerebellar Atrophy and Purkinje Cell Loss in Galloway-Mowat Syndrome Type 1 (GAMOS1): Insights from Organoid and Mouse Models

从Mini-Gene到Mini-NMD揭示一个中国COG5-CDG家系新发COG5突变的致病机制