Kids First https://validator.w3.org/feed/docs/rss2.html Events Home MasterClass – Live Mentorship for Advanced Users SupportU – Interactive Learning for New Users 14th Structural Birth Defects Meeting Fall Public Webinar AACR Pediatrics Kids First Spring Public Webinar American Society of Human Genetics 2026 A Decade of Kids First Kids First Releases Landmark Dataset on Rare Childhood Germ Cell Tumors Community Webinar Rare Disease Day Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients Gene-by-Environment Interactions Involving Maternal Exposures with Orofacial Cleft Risk in Filipinos Unsupervised machine learning integrates genomic variants and EMR to unravel mechanisms of brain hemorrhage and epilepsy as early indicators of alzheimer’s in down syndrome Deep learning algorithms reveal genomic markers for anxiety disorder in a large cohort of children with down syndrome Late effects after high-risk neuroblastoma (LEAHRN): a multicentre, cross-sectional cohort study from the Children’s Oncology Group Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors The Open Pediatric Cancer Project Be the Rare We Share Evaluating the Genetic Overlap Between Congenital Heart Disease and Neuroblastoma Risk What If Data Could Save a Life? The Gabriella Miller Kids First Data Resource Center has launched the Variant Workbench What If What If Home old Uniting Genomics for Kids at ASHG 2025 2025 Kids First / CAVATICA Data Migration Guide The Rare We Share Pharmacogenomics in Orofacial Clefts Care: Insights from Whole-Genome Sequencing of Case-Parents Trios Inferring chromosome segregation error stage and crossover in trisomic disorders with application to Down syndrome Remodeling of the immune microenvironment is linked to adverse outcome in pediatric T cell acute lymphoblastic leukemia Improved identification of T-ALL paediatric patients with low MRD but poor prognosis using a transcriptional signature Let’s Turn Data Into Discovery Together Novel Protein-Altering Variants in Cleft Genes Transmitted in Families With NSCL±P Actomyosin contractility and a threshold of cadherin cell adhesion are required during tissue fusion USP7 alterations are associated with a poor survival in pediatric T-cell Acute Lymphoblastic Leukemia Functional Annotation of De Novo Variants Found Near GWAS Loci Associated With Cleft Lip With or Without Cleft Palate Expanding and refining the mammalian phenotype ontology to enhance disease model discovery Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection NRCAM variant defined by microexon skipping is a targetable cell surface proteoform in high-grade gliomas A non-canonical lymphoblast in refractory childhood T-cell leukaemia Fusion Oncoproteins and Cooperating Mutations Define Disease Phenotypes in NUP98-Rearranged Leukemia EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis Dmxl1 is required for survival in the mouse to organogenesis stages of development Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy Role of stem-like cells in chemotherapy resistance and relapse in pediatric T-cell acute lymphoblastic leukemia News