Kids First https://validator.w3.org/feed/docs/rss2.html Personas for the translational workforce Data Lakes, Clouds, and Commons: A Review of Platforms for Analyzing and Sharing Genomic Data Role of repulsive guidance signaling and GPR180 in pediatric low-grade glioma infiltration A Framework for the Interoperability of Cloud Platforms: Towards FAIR Data in SAFE Environments Expanding the MOG phenotype: Brainstem encephalitis with punctate and curvilinear enhancement Alternative lengthening of telomeres (ALT) in pediatric high-grade gliomas can occur without ATRX mutation and is enriched in patients with pathogenic germline mismatch repair (MMR) variants FAT4 identified as a potential modifier of orofacial cleft laterality Integrative approaches generate insights into the architecture of non-syndromic cleft lip with or without cleft palate EM-mosaic detects mosaic point mutations that contribute to congenital heart disease X-linked genetic associations in sporadic thoracic aortic dissection Synergistic Associations of PNPLA3 I148M Variant, Alcohol Intake, and Obesity With Risk of Cirrhosis, Hepatocellular Carcinoma, and Mortality Dexamethasone Suppresses Palatal Cell Proliferation through miR-130a-3p Maternal effect genes: Update and review of evidence for a link with birth defects muCNV: Genotyping Structural Variants for Population-level Sequencing MicroRNA-124-3p suppresses mouse lip mesenchymal cell proliferation through the regulation of genes associated with cleft lip in the mouse High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios Meerkat: An Algorithm to Reliably Identify Structural Variations and Predict Their Forming Mechanisms DMRscaler: a scale-aware method to identify regions of differential DNA methylation spanning basepair to multi-megabase features Balancing the transcriptome: leveraging sample similarity to improve measures of gene specificity Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms From chemoproteomic-detected amino acids to genomic coordinates: insights into precise multi-omic data integration Metabolic reprogramming and epigenetic changes of vital organs in SARS-CoV-2-induced systemic toxicity K-mer analysis of long-read alignment pileups for structural variant genotyping Transient mRNA CAR T cells targeting GD2 provide dose-adjusted efficacy against diffuse midline glioma and high-grade glioma models Benchmarking Transformer Embedding Models for Biomedical Terminology Standardization Genetic association analysis of 77,539 genomes reveals rare disease etiologies Approaching complete genomes, transcriptomes and epi-omes with accurate long-read sequencing Co-occurrence of congenital anomalies and childhood brain tumors in 22 million live births Nonchromosomal birth defects and risk of childhood acute leukemia: An assessment in 15 000 leukemia cases and 46 000 controls from the Childhood Cancer and Leukemia International Consortium A multicenter observational cohort study in survivors of Down Syndrome-associated acute leukemia (ALTE22C1): a report from the Children’s Oncology Group RNA editing regulates host immune response and T cell homeostasis in SARS-CoV-2 infection Protocol for in vitro co-culture assay for rapid expansion of human T cell acute lymphoblastic leukemia Malignant A-to-I RNA editing by ADAR1 drives T cell acute lymphoblastic leukemia relapse via attenuating dsRNA sensing bamSliceR: a Bioconductor package for rapid, cross-cohort variant and allelic bias analysis TRIM28-dependent developmental heterogeneity determines cancer susceptibility through distinct epigenetic states Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes Classification and risk stratification in T-lineage acute lymphoblastic leukemia Gain-of-function variants and overexpression of RUNX2 in patients with nonsyndromic midline craniosynostosis A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis PERADIGM: Phenotype embedding similarity-based rare disease gene mapping Genomic analysis of 11,555 probands identifies 60 dominant congenital heart disease genes Recessive genetic contribution to congenital heart disease in 5,424 probands Integrative modeling of transmitted and de novo variants identifies novel risk genes for congenital heart disease Identification of neural crest and melanoma cancer cell invasion and migration genes using high-throughput screening and deep attention networks Home Challenges in the clinical understanding of genetic testing in birth defects and pediatric diseases Rescuing lung development through embryonic inhibition of histone acetylation MYT1 role in the microtia-craniofacial microsomia spectrum CTCF/RAD21 organize the ground state of chromatin-nuclear speckle association News