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Cancer
Neuroblastoma and Glioblastoma Cases With Amplified Oncogenes Have Reduced Numbers of Tumor-Resident Adaptive Immune Receptor Recombinations
Congenital Disorder
Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes
Congenital Disorder
Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape
Congenital Disorder
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects
Cancer
Transcriptional immunogenomic analysis reveals distinct immunological clusters in paediatric nervous system tumours
Cancer
Using existing pediatric cancer data from the Gabriella Miller Kids First Data Resource Program
Cancer
Germline pathogenic variants in neuroblastoma patients are enriched in BARD1 and predict worse survival
Congenital Disorder
Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes
Cancer
Genomic landscape of Down syndrome–associated acute lymphoblastic leukemia
Congenital Disorder
Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes
Cancer
Identification of a novel gene signature for neuroblastoma differentiation using a Boolean implication network
Congenital Disorder
Congenital heart defects caused by FOXJ1
Congenital Disorder
Rare variants found in clinical gene panels illuminate the genetic and allelic architecture of orofacial clefting
Cancer
Discovery of novel predisposing coding and noncoding variants in familial Hodgkin lymphoma
Cancer
Multi-ancestry genome-wide association study of 4069 children with glioma identifies 9p21. 3 risk locus
Congenital Disorder
Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations
Congenital Disorder
Damaging variants in FOXI3 cause microtia and craniofacial microsomia
Congenital Disorder
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis
Congenital Disorder
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall stature
Congenital Disorder
Clinically actionable secondary findings in 130 triads from sub‐Saharan African families with non‐syndromic orofacial clefts
Cancer
Integrative genomic analyses identify lncRNA regulatory networks across pediatric leukemias and solid tumors
Congenital Disorder
Genome-wide evaluation of the effect of short tandem repeat variation on local DNA methylation
Cross Condition
Identification of risk variants related to malignant tumors in children with birth defects by whole genome sequencing.
Cancer
Cytosine base editing enables quadruple-edited allogeneic CART cells for T-ALL.
Congenital Disorder
Whole-genome sequencing reveals de-novo mutations associated with nonsyndromic cleft lip/palate
Congenital Disorder
Disruption of the HIF-1 pathway in individuals with Ollier disease and Maffucci syndrome
Congenital Disorder
Polygenic risk scores of endo-phenotypes identify the effect of genetic background in congenital heart disease
Congenital Disorder
The arginine methyltransferase Carm1 is necessary for heart development
Cancer
Germline predisposition to pediatric Ewing sarcoma is characterized by inherited pathogenic variants in DNA damage repair genes
Congenital Disorder
Neither cardiac mitochondrial DNA variation nor copy number contribute to congenital heart disease risk
Congenital Disorder
Identification and validation of candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas
Congenital Disorder
An ancient founder mutation located between ROBO1 and ROBO2 is responsible for increased microtia risk in Amerindigenous populations
Cancer
Immunogenomic determinants of tumor microenvironment correlate with superior survival in high-risk neuroblastoma
Congenital Disorder
Pervasive cis effects of variation in copy number of large tandem repeats on local DNA methylation and gene expression
Cancer
Systems biology analysis for Ewing sarcoma
Congenital Disorder
Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene
Cross Condition
trioPhaser: using Mendelian inheritance logic to improve genomic phasing of trios
Cross Condition
A survey of compound heterozygous variants in pediatric cancers and structural birth defects
Cancer
Selective modulation of a pan-essential protein as a therapeutic strategy in cancer
Congenital Disorder
Effective variant filtering and expected candidate variant yield in studies of rare human disease
Congenital Disorder
Haploinsufficiency of SF3B2 causes craniofacial microsomia
Cross Condition
A survey of rare epigenetic variation in 23,116 human genomes identifies disease-relevant epivariations and CGG expansions
Congenital Disorder
Whole genome sequencing of orofacial cleft trios from the Gabriella Miller Kids First Pediatric Research Consortium identifies a new locus on chromosome 21
Congenital Disorder
Genome-wide enrichment of de novo coding mutations in orofacial cleft trios
Congenital Disorder
Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes
Congenital Disorder
Genomic analyses implicate noncoding de novo variants in congenital heart disease
Congenital Disorder
Deep whole-genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias
Congenital Disorder
Elucidation of de novo small insertion/deletion biology with parent‐of‐origin phasing
Cancer
Germline 16p11. 2 microdeletion predisposes to neuroblastoma
Congenital Disorder
ORE identifies extreme expression effects enriched for rare variants
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The Kids First Data Resource Center (“DRC”) comprises partnered institutions supported by the NIH Common Fund under Award Number U2CHL138346 as part of the Common Fund’s Gabriella Miller Kids First Pediatric Research Program (“Kids First”). All content, terms and conditions and policies associated with the DRC Portal and Website (the “Services”) are produced by the DRC. The views and opinions of authors expressed on the Services do not necessarily state or reflect those of the National Institutes of Health (“NIH”) or the U.S. government. Furthermore, the NIH does not endorse or promote any DRC entity or any of its products or services nor guarantees the products, services, or information provided by the DRC.
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