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癌症
先天性疾病
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先天性疾病
MAGEL2-related disorders: A study and case series.
先天性疾病
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
先天性疾病
Statistical methods for assessing the effects of de novo variants on birth defects.
先天性疾病
The influence of genetics in congenital diaphragmatic hernia.
先天性疾病
Secondary Genome-Wide Association Study Using Novel Analytical Strategies Disentangle Genetic Components of Cleft Lip and/or Cleft Palate in 1q32.2.
先天性疾病
Rare variants in the endocytic pathway are associated with Alzheimer’s disease, its related phenotypes, and functional consequences.
先天性疾病
Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?
先天性疾病
Quantifying concordant genetic effects of de novo mutations on multiple disorders.
先天性疾病
Pleiotropy method reveals genetic overlap between orofacial clefts at multiple novel loci from GWAS of multi-ethnic trios.
先天性疾病
Phenotype delineation of ZNF462 related syndrome.
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Pan-African genome demonstrates how population-specific genome graphs improve high-throughput sequencing data analysis.
先天性疾病
Network assisted analysis of de novo variants using protein-protein interaction information identified 46 candidate genes for congenital heart disease.
先天性疾病
Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders.
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MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
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Jasmine and Iris: population-scale structural variant comparison and analysis.
先天性疾病
Interrogating Causal Effects of Body Composition and Puberty-Related Risk Factors on Adolescent Idiopathic Scoliosis: A Two-Sample Mendelian Randomization Study.
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Towards self-describing and FAIR bulk formats for biomedical data.
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The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution.
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The landscape of human SVA retrotransposons.
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The Human Phenotype Ontology in 2024: phenotypes around the world.
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The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system.
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The genetic overlap between osteoporosis and craniosynostosis.
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The Biomedical Research Hub: a federated platform for patient research data.
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Ten lessons for data sharing with a data commons.
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Template-based prediction of protein structure with deep learning.
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Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
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STtools: A Comprehensive Software Pipeline for Ultra-high Resolution Spatial Transcriptomics Data.
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Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery.
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Rare variants regulate expression of nearby individual genes in multiple tissues.
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Predicting functional effect of missense variants using graph attention neural networks.
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Microscopic examination of spatial transcriptome using Seq-Scope.
癌症
Identification of USP9X as a leukemia susceptibility gene.
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Generation of synthetic whole-slide image tiles of tumours from RNA-sequencing data via cascaded diffusion models.
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VBASS enables integration of single cell gene expression data in Bayesian association analysis of rare variants.
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Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models.
癌症
Taking a BiTE Out of CAR-T Cell Efficacy.
癌症
Somatic structural variation signatures in pediatric brain tumors.
癌症
SOHO State of the Art Updates and Next Questions | Novel Approaches to Pediatric T-cell ALL and T-Lymphoblastic Lymphoma.
癌症
Role of non-chromosomal birth defects on the risk of developing childhood Hodgkin lymphoma: A Children’s Oncology Group study.
癌症
Rational drug combinations with CDK4/6 inhibitors in acute lymphoblastic leukemia.
癌症
Potential Role of IFNγ Inhibition in Refractory Cytokine Release Syndrome Associated with CAR T-cell Therapy.
癌症
NTRK Fusions Identified in Pediatric Tumors: The Frequency, Fusion Partners, and Clinical Outcome.
癌症
Novel ATXN1/ATXN1L::NUTM2A fusions identified in aggressive infant sarcomas with gene expression and methylation patterns similar to CIC-rearranged sarcoma.
癌症
Informatics Methods and Infrastructure Needed to Study Factors Associated with High Incidence of Pediatric Brain and Central Nervous System Tumors in Kentucky.
癌症
Imipridones affect tumor bioenergetics and promote cell lineage differentiation in diffuse midline gliomas.
癌症
Intra-tumoral T cells in pediatric brain tumors display clonal expansion and effector properties.
癌症
The children’s brain tumor network (CBTN) – Accelerating research in pediatric central nervous system tumors through collaboration and open science.
癌症
NCI Cancer Research Data Commons: Lessons Learned and Future State.
先天性疾病
The Genetics of Neurodevelopment in Congenital Heart Disease.
先天性疾病
Identification of Functional Genetic Determinants of Cardiac Troponin T and I in a Multiethnic Population and Causal Associations With Atrial Fibrillation.
癌症
Germline microsatellite genotypes differentiate children with medulloblastoma.
癌症
Genomic characterization of a PPP1CB-ALK fusion with fusion gene amplification in a congenital glioblastoma.
癌症
Genomic analysis and preclinical xenograft model development identify potential therapeutic targets for MYOD1-mutant soft-tissue sarcoma of childhood.
先天性疾病
Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect.
先天性疾病
Genetic models and approaches to study orofacial clefts.
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Genetic association analysis of 77,539 genomes reveals rare disease etiologies.
先天性疾病
Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects.
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GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data.
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Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies.
先天性疾病
Disease-associated c-MYC downregulation in human disorders of transcriptional regulation.
癌症
Development and Clinical Validation of a Large Fusion Gene Panel for Pediatric Cancers.
先天性疾病
Detecting Gene-Environment Interaction for Maternal Exposures Using Case-Parent Trios Ascertained Through a Case With Non-Syndromic Orofacial Cleft.
先天性疾病
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
先天性疾病
Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans.
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De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 家庭.
先天性疾病
Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease.
癌症
Comprehensive Serum Proteome Profiling of Cytokine Release Syndrome and Immune Effector Cell-Associated Neurotoxicity Syndrome Patients with B-Cell ALL Receiving CAR T19.
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Comprehensive identification of transposable element insertions using multiple sequencing technologies.
先天性疾病
Closing in on Mechanisms of Open Neural Tube Defects.
癌症
Clinically Relevant and Minimally Invasive Tumor Surveillance of Pediatric Diffuse Midline Gliomas Using Patient-Derived Liquid Biopsy.
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Clinical and molecular features of pediatric cancer patients with Lynch syndrome.
癌症
Children’s Oncology Group’s 2023 blueprint for research: Epidemiology.
癌症
Children’s Oncology Group Trial AALL1231: A Phase III Clinical Trial Testing Bortezomib in Newly Diagnosed T-Cell Acute Lymphoblastic Leukemia and Lymphoma.
癌症
Central nervous system status is prognostic in T-cell acute lymphoblastic leukemia: a Children’s Oncology Group report.
癌症
Cancer Informatics for Cancer Centers: Scientific Drivers for Informatics, Data Science, and Care in Pediatric, Adolescent, and Young Adult Cancer.
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AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification.
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Associations between birth defects with neural crest cell origins and pediatric embryonal tumors.
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annoFuse: an R Package to annotate, prioritize, and interactively explore putative oncogenic RNA fusions.
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An efficient linear mixed model framework for meta-analytic association studies across multiple contexts.
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Accurate in silico confirmation of rare copy number variant calls from exome sequencing data using transfer learning.
先天性疾病
Accurate diagnosis of atopic dermatitis by combining transcriptome and microbiota data with supervised machine learning.
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A Practical Guide for Structural Variation Detection in the Human Genome.
癌症
A germline PALB2 pathogenic variant identified in a pediatric high-grade glioma.
先天性疾病
A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.
先天性疾病
A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease.
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A cross-disorder dosage sensitivity map of the human genome.
先天性疾病
AXIN1 mutations in nonsyndromic craniosynostosis.
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High Comorbidity of Pediatric Cancers in Patients with Birth Defects: Insights from Whole Genome Sequencing Analysis of Copy Number Variations.
癌症
Perinatal thymic-derived CD8αβ-expressing γδ T cells are innate IFN-γ producers that expand in IL-7R-STAT5B-driven neoplasms.
癌症
Treating sex and gender differences as a continuous variable can improve precision cancer treatments.
先天性疾病
Risk of meningomyelocele mediated by the common 22q11.2 deletion.
先天性疾病
Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits.
先天性疾病
Investigating gene functions and single-cell expression profiles of de novo variants in orofacial clefts.
ALK 上调 POSTN 和 WNT 信号传导以驱动神经母细胞瘤
先天性疾病
先天性心脏病中人类心脏增强剂和非编码从头变异的功能解剖
交叉条件
使用 Ambigram 破译复杂的断裂-融合-桥基因组重排
癌症
癌基因扩增的神经母细胞瘤和胶质母细胞瘤病例减少了肿瘤驻留适应性免疫受体重组的数量
先天性疾病
罕见变异修饰符分析识别了 SEC24D 中与口面部裂亚型相关的变异
先天性疾病
联合多祖先和混合 GWAS 揭示了人类颅顶形状背后的复杂遗传学
先天性疾病
影响肌动蛋白结合域的 PLS3 错义变异导致 X 连锁先天性膈疝和体壁缺陷
癌症
转录免疫基因组分析揭示了儿科神经系统肿瘤的独特免疫簇
癌症
使用来自 Gabriella Miller Kids First 数据资源计划的现有儿科癌症数据
癌症
神经母细胞瘤患者的种系致病变异在 BARD1 中富集并预测较差的生存率
先天性疾病
罕见变异修饰符分析识别了 SEC24D 中与口面部裂亚型相关的变异
癌症
唐氏综合症相关急性淋巴细胞白血病的基因组景观
先天性疾病
人类颅面发育过程中转录组动态的综合分析确定了候选疾病基因
癌症
使用布尔蕴涵网络鉴定神经母细胞瘤分化的新基因特征
先天性疾病
FOXJ1引起的先天性心脏缺陷
先天性疾病
临床基因组中发现的罕见变异阐明了口颌裂的遗传和等位基因结构
癌症
家族性霍奇金淋巴瘤中新的易感编码和非编码变异的发现
癌症
多祖先全基因组关联研究 4069 患有神经胶质瘤的儿童可识别 9p21. 3 风险位点
先天性疾病
通过全基因组从头突变分析，优先考虑伴有/不伴有腭裂的非综合征性唇裂所涉及的非编码元件
先天性疾病
FOXI3 的破坏性变异导致小耳症和颅面短小症
先天性疾病
非编码变异改变菱核中的 GATA2 表达 4 运动神经元并导致显性遗传性先天性面瘫
先天性疾病
AMOTL1 的突变热点定义了一种新的口颌面裂综合征, 心脏异常, 和高大的身材
先天性疾病
临床上可操作的次要发现 130 来自撒哈拉以南非洲家庭的非综合征性口颌裂三合会
癌症
整合基因组分析确定儿童白血病和实体瘤的 lncRNA 调控网络
先天性疾病
短串联重复变异对局部 DNA 甲基化影响的全基因组评估
交叉条件
全基因组测序鉴定出生缺陷儿童恶性肿瘤相关风险变异.
癌症
胞嘧啶碱基编辑可对 T-ALL 进行四重编辑同种异体 CART 细胞.
先天性疾病
全基因组测序揭示与非综合征性唇裂/腭裂相关的从头突变
先天性疾病
Ollier 病和 Maffucci 综合征患者 HIF-1 通路的破坏
先天性疾病
内表型的多基因风险评分确定遗传背景对先天性心脏病的影响
先天性疾病
精氨酸甲基转移酶 Carm1 对于心脏发育是必需的
癌症
儿童尤文肉瘤的种系易感性以 DNA 损伤修复基因的遗传性致病变异为特征
先天性疾病
心脏线粒体 DNA 变异和拷贝数均不会增加先天性心脏病风险
先天性疾病
与食管闭锁和气管食管瘘相关的内吞性囊泡运输中候选风险基因的鉴定和验证
先天性疾病
位于 ROBO1 和 ROBO2 之间的古老创始人突变导致美洲原住民人群小耳症风险增加
癌症
肿瘤微环境的免疫基因组决定因素与高危神经母细胞瘤的优异生存相关
先天性疾病
大串联重复序列拷贝数变化对局部 DNA 甲基化和基因表达的普遍顺式影响
癌症
尤文肉瘤的系统生物学分析
先天性疾病
罕见和新变种 827 先天性膈疝先证者提示 LONP1 是候选风险基因
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三重移相器: 使用孟德尔遗传逻辑来改善三重奏的基因组定相
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儿科癌症和结构性出生缺陷复合杂合变异的调查
癌症
选择性调节泛必需蛋白作为癌症治疗策略
先天性疾病
人类罕见疾病研究中的有效变异过滤和预期候选变异产量
先天性疾病
SF3B2单倍体不足导致颅面短小
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罕见表观遗传变异的调查 23,116 人类基因组识别与疾病相关的表观变异和 CGG 扩展
先天性疾病
加布里埃拉·米勒儿童第一儿科研究联盟对口面裂三人组进行全基因组测序，确定了染色体上的一个新基因座 21
先天性疾病
口面裂三人组中从头编码突变的全基因组富集
先天性疾病
先天性膈疝患者可能具有破坏性的新发变异与较差的临床结果相关
先天性疾病
基因组分析表明先天性心脏病中存在非编码从头变异
先天性疾病
对多个先证者组织和父母血液的深度全基因组测序揭示了先天性膈疝的复杂遗传病因
先天性疾病
利用亲本定相阐明从头小插入/缺失生物学
癌症
种系 16p11. 2 微缺失易患神经母细胞瘤
先天性疾病
ORE 识别出富含罕见变异的极端表达效应
先天性疾病
先天性膈疝的新生变异将 MYRF 识别为一种新综合征，并揭示了与其他发育障碍的遗传重叠
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儿童第一数据资源中心 (“刚果民主共和国”) 由 NIH 共同基金支持的合作机构组成，奖励编号为 U2CHL138346，作为共同基金 Gabriella Miller Kids First 儿科研究计划的一部分 (“孩子第一”). 所有内容, 与 DRC 门户和网站相关的条款和条件以及政策 (“服务”) 由刚果民主共和国生产. 作者在服务中表达的观点和意见并不一定代表或反映美国国立卫生研究院的观点和意见 (“NIH”) 或美国. 政府. 此外, NIH 不认可或推广任何 DRC 实体或其任何产品或服务，也不对产品提供保证, 服务, 或刚果民主共和国提供的信息.
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