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Cancer (82)
Congenital Disorder (101)
Cross Condition (56)
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Congenital Disorder
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
Congenital Disorder
Deep learning algorithms reveal genomic markers for anxiety disorder in a large cohort of children with down syndrome
Cancer
Late effects after high-risk neuroblastoma (LEAHRN): a multicentre, cross-sectional cohort study from the Children’s Oncology Group
Congenital Disorder
Haploinsufficiency of GRHL2 is associated with orofacial clefting in humans
Cancer
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors
Cross Condition
Evaluating the Genetic Overlap Between Congenital Heart Disease and Neuroblastoma Risk
Congenital Disorder
Pharmacogenomics in Orofacial Clefts Care: Insights from Whole-Genome Sequencing of Case-Parents Trios
Congenital Disorder
Actomyosin contractility and a threshold of cadherin cell adhesion are required during tissue fusion
Cancer
Remodeling of the immune microenvironment is linked to adverse outcome in pediatric T cell acute lymphoblastic leukemia
Cancer
A non-canonical lymphoblast in refractory childhood T-cell leukaemia
Congenital Disorder
Dmxl1 is required for survival in the mouse to organogenesis stages of development
Cancer
Improved identification of T-ALL paediatric patients with low MRD but poor prognosis using a transcriptional signature
Congenital Disorder
Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients
Cross Condition
Inferring chromosome segregation error stage and crossover in trisomic disorders with application to Down syndrome
Cancer
The Open Pediatric Cancer Project
Congenital Disorder
Gene-by-Environment Interactions Involving Maternal Exposures with Orofacial Cleft Risk in Filipinos
Congenital Disorder
Novel Protein-Altering Variants in Cleft Genes Transmitted in Families With NSCL±P
Cancer
USP7 alterations are associated with a poor survival in pediatric T-cell Acute Lymphoblastic Leukemia
Congenital Disorder
Functional Annotation of De Novo Variants Found Near GWAS Loci Associated With Cleft Lip With or Without Cleft Palate
Cross Condition
Expanding and refining the mammalian phenotype ontology to enhance disease model discovery
Congenital Disorder
Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection
Cancer
NRCAM variant defined by microexon skipping is a targetable cell surface proteoform in high-grade gliomas
Cancer
Fusion Oncoproteins and Cooperating Mutations Define Disease Phenotypes in NUP98-Rearranged Leukemia
Congenital Disorder
EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis
Congenital Disorder
Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy
Cancer
Role of stem-like cells in chemotherapy resistance and relapse in pediatric T-cell acute lymphoblastic leukemia
Cancer
Distinct Mitochondrial DNA Deletion Profiles in Pediatric B- and T-ALL During Diagnosis, Remission, and Relapse
Congenital Disorder
Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approach
Cross Condition
Efficient identification of de novo mutations in family trios: a consensus-based informatic approach
Congenital Disorder
Gene Identification for Ocular Congenital Cranial Motor Neuron Disorders Using Human Sequencing, Zebrafish Screening, and Protein Binding Microarrays
Cancer
STAT1-mediated interferon signatures associate with preclinical JAK-inhibitor sensitivity in T-cell acute lymphoblastic leukemia
Cancer
GATA2 links stemness to chemotherapy resistance in acute myeloid leukemia
Cancer
Genome-wide CRISPR screen identifies IRF1 and TFAP4 as transcriptional regulators of Galectin-9 in T cell acute lymphoblastic leukemia
Congenital Disorder
Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia
Cancer
Single-cell panleukemia signatures of HSPC-like blasts predict drug response and clinical outcome
Cancer
Genetic ancestry superpopulations show distinct prevalence and outcomes across pediatric central nervous system tumors from the PBTA and PNOC
Cancer
Lineage dependence of the neuroblastoma surfaceome defines tumor cell state-dependent and -independent immunotherapeutic targets
Cancer
Ongoing chromothripsis underpins osteosarcoma genome complexity and clonal evolution
Cancer
M&M: an RNA-seq based pan-cancer classifier for paediatric tumours
Cancer
Multiparametric MRI along with machine learning predicts prognosis and treatment response in pediatric low-grade glioma
Congenital Disorder
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders
Cross Condition
Protocol to analyze deep-learning-predicted functional scores for noncoding de novo variants and their correlation with complex brain traits
Cancer
Clinical and molecular features of pediatric cancer patients with Lynch syndrome
Congenital Disorder
The Contribution of De Novo Coding Mutations to Meningomyelocele
Cancer
CXCL14 Promotes a Robust Brain Tumor-Associated Immune Response in Glioma
Cancer
Prognostic implications of immune-related eight-gene signature in pediatric brain tumors
Congenital Disorder
Genome-Wide Association Study of Non-syndromic Orofacial Clefts in a Multiethnic Sample of Families and Controls Identifies Novel Regions
Congenital Disorder
Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development
Congenital Disorder
Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations
Cancer
Pediatric high-grade glioma resources from the Children’s Brain Tumor Tissue Consortium
Congenital Disorder
Systematic phenotype and genotype characterization of Moebius syndrome
Congenital Disorder
Risk of Alzheimer’s disease in Down syndrome: Insights gained by multi-omics
Cancer
Impact of Genetic Ancestry on Genomics and Survival Outcomes in T-cell Acute Lymphoblastic Leukemia
Cross Condition
Homo Sapiens Chromosomal Location Ontology: A Framework for Genomic Data in Biomedical Knowledge Graphs
Congenital Disorder
Genome-Wide Association Studies of Down Syndrome Associated Congenital Heart Defects Suggests a Genetically Heterogeneous Risk for CHD in DS
Cancer
Genome-wide association study of somatic GATA1s mutations in newborns with Down Syndrome
Congenital Disorder
Fundamentals of FAIR biomedical data analyses in the cloud using custom pipelines
Congenital Disorder
Deep learning algorithms reveal genomic markers for anxiety disorder in a large cohort of children with down syndrome
Cross Condition
Copy number variations contribute to malignant tumor development in children with serious birth defects
Cancer
A multiomic atlas identifies a treatment-resistant, bone marrow progenitor-like cell population in T cell acute lymphoblastic leukemia
Congenital Disorder
Common cis-regulatory variation modifies the penetrance of pathogenic SHROOM3 variants in craniofacial microsomia
Cancer
Evaluating the Potential of PSMA Targeting in CNS Tumors: Insights from Large-Scale Transcriptome Profiling
Cross Condition
TRIO RVEMVS: A Bayesian framework for rare variant association analysis with expectation-maximization variable selection using family trio data
Cancer
Deciphering protective genomic factors of tumor development in pediatric Down syndrome via deep learning approach to whole genome and RNA sequencing
Congenital Disorder
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
Congenital Disorder
Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants
Congenital Disorder
Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis
Cancer
The genomic basis of childhood T-lineage acute lymphoblastic leukaemia
Cancer
Biologic and Clinical Analysis of Childhood Gamma Delta T-ALL Identifies LMO2/STAG2 Rearrangements as Extremely High Risk
Congenital Disorder
Parents and Provider Perspectives on the Return of Genomic Findings for Cleft Families in Africa
Cancer
Genomic information of children with malignant brain tumors for the prediction of length of hospitalization
Congenital Disorder
Toxicology knowledge graph for structural birth defects
Cancer
Genetic predisposition to neuroblastoma results from a regulatory polymorphism that promotes the adrenergic cell state
Cancer
Methyltransferase Inhibition Enables Tgf β Driven Induction of CDKN2A and B in Cancer Cells
Cancer
Unsupervised machine learning using K-means identifies radiomic subgroups of pediatric low-grade gliomas that correlate with key molecular markers
Congenital Disorder
Damaging Mutations in AFDN Contribute to Risk of Nonsyndromic Cleft Lip With or Without Cleft Palate
Cancer
Mitochondrial DNA haplogroup, genetic ancestry, and susceptibility to Ewing sarcoma
Congenital Disorder
Variability in proliferative and migratory defects in Hirschsprung disease-associated RET pathogenic variants
Cross Condition
Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease
Cancer
A proteogenomic surfaceome study identifies DLK1 as an immunotherapeutic target in neuroblastoma
Cross Condition
A phenome-wide association study of tandem repeat variation in 168,554 individuals from the UK Biobank
Cross Condition
Increased frequency of repeat expansion mutations across different populations
Cross Condition
High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation
Congenital Disorder
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability
Cross Condition
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
Congenital Disorder
Increased endothelial sclerostin caused by elevated DSCAM mediates multiple trisomy 21 phenotypes
Cross Condition
Beyond the Human Genome Project: The Age of Complete Human Genome Sequences and Pangenome References
Cancer
MRD at the end of induction and EFS in T-cell lymphoblastic lymphoma: Children’s Oncology Group trial AALL1231
BARD1 germline variants induce haploinsufficiency and DNA repair defects in neuroblastoma
Cancer
A Bright Horizon: Immunotherapy for Pediatric T-Cell Malignancies
Congenital Disorder
Genome-Wide De Novo Variants in Congenital Heart Disease Are Not Associated With Maternal Diabetes or Obesity
Cross Condition
M-DATA: A statistical approach to jointly analyzing de novo mutations for multiple traits
Cross Condition
A structural variation reference for medical and population genetics
Congenital Disorder
Genomic frontiers in congenital heart disease
Cross Condition
Petagraph: A large-scale unifying knowledge graph framework for integrating biomolecular and biomedical data
Cancer
Rare germline structural variants increase risk for pediatric solid tumors
Congenital Disorder
MAGEL2-related disorders: A study and case series.
Congenital Disorder
Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Congenital Disorder
Statistical methods for assessing the effects of de novo variants on birth defects.
Congenital Disorder
The influence of genetics in congenital diaphragmatic hernia.
Congenital Disorder
Secondary Genome-Wide Association Study Using Novel Analytical Strategies Disentangle Genetic Components of Cleft Lip and/or Cleft Palate in 1q32.2.
Congenital Disorder
Rare variants in the endocytic pathway are associated with Alzheimer’s disease, its related phenotypes, and functional consequences.
Congenital Disorder
Rare variants found in multiplex families with orofacial clefts: Does expanding the phenotype make a difference?
Congenital Disorder
Quantifying concordant genetic effects of de novo mutations on multiple disorders.
Congenital Disorder
Pleiotropy method reveals genetic overlap between orofacial clefts at multiple novel loci from GWAS of multi-ethnic trios.
Congenital Disorder
Phenotype delineation of ZNF462 related syndrome.
Cross Condition
Pan-African genome demonstrates how population-specific genome graphs improve high-throughput sequencing data analysis.
Congenital Disorder
Network assisted analysis of de novo variants using protein-protein interaction information identified 46 candidate genes for congenital heart disease.
Congenital Disorder
Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders.
Cross Condition
MACF1 Mutations Encoding Highly Conserved Zinc-Binding Residues of the GAR Domain Cause Defects in Neuronal Migration and Axon Guidance.
Cross Condition
Jasmine and Iris: population-scale structural variant comparison and analysis.
Congenital Disorder
Interrogating Causal Effects of Body Composition and Puberty-Related Risk Factors on Adolescent Idiopathic Scoliosis: A Two-Sample Mendelian Randomization Study.
Cross Condition
Towards self-describing and FAIR bulk formats for biomedical data.
Cross Condition
The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution.
Cross Condition
The landscape of human SVA retrotransposons.
Cross Condition
The Human Phenotype Ontology in 2024: phenotypes around the world.
Cross Condition
The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system.
Cross Condition
The genetic overlap between osteoporosis and craniosynostosis.
Cross Condition
The Biomedical Research Hub: a federated platform for patient research data.
Cross Condition
Ten lessons for data sharing with a data commons.
Cross Condition
Template-based prediction of protein structure with deep learning.
Cross Condition
Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies.
Cross Condition
STtools: A Comprehensive Software Pipeline for Ultra-high Resolution Spatial Transcriptomics Data.
Cross Condition
Representing glycophenotypes: semantic unification of glycobiology resources for disease discovery.
Cross Condition
Rare variants regulate expression of nearby individual genes in multiple tissues.
Cross Condition
Predicting functional effect of missense variants using graph attention neural networks.
Cross Condition
Microscopic examination of spatial transcriptome using Seq-Scope.
Cancer
Identification of USP9X as a leukemia susceptibility gene.
Cross Condition
Generation of synthetic whole-slide image tiles of tumours from RNA-sequencing data via cascaded diffusion models.
Cross Condition
VBASS enables integration of single cell gene expression data in Bayesian association analysis of rare variants.
Cross Condition
Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models.
Cancer
Taking a BiTE Out of CAR-T Cell Efficacy.
Cancer
Somatic structural variation signatures in pediatric brain tumors.
Cancer
SOHO State of the Art Updates and Next Questions | Novel Approaches to Pediatric T-cell ALL and T-Lymphoblastic Lymphoma.
Cancer
Role of non-chromosomal birth defects on the risk of developing childhood Hodgkin lymphoma: A Children’s Oncology Group study.
Cancer
Rational drug combinations with CDK4/6 inhibitors in acute lymphoblastic leukemia.
Cancer
Potential Role of IFNγ Inhibition in Refractory Cytokine Release Syndrome Associated with CAR T-cell Therapy.
Cancer
NTRK Fusions Identified in Pediatric Tumors: The Frequency, Fusion Partners, and Clinical Outcome.
Cancer
Novel ATXN1/ATXN1L::NUTM2A fusions identified in aggressive infant sarcomas with gene expression and methylation patterns similar to CIC-rearranged sarcoma.
Cancer
Informatics Methods and Infrastructure Needed to Study Factors Associated with High Incidence of Pediatric Brain and Central Nervous System Tumors in Kentucky.
Cancer
Imipridones affect tumor bioenergetics and promote cell lineage differentiation in diffuse midline gliomas.
Cancer
Intra-tumoral T cells in pediatric brain tumors display clonal expansion and effector properties.
Cancer
The children’s brain tumor network (CBTN) – Accelerating research in pediatric central nervous system tumors through collaboration and open science.
Cancer
NCI Cancer Research Data Commons: Lessons Learned and Future State.
Congenital Disorder
The Genetics of Neurodevelopment in Congenital Heart Disease.
Congenital Disorder
Identification of Functional Genetic Determinants of Cardiac Troponin T and I in a Multiethnic Population and Causal Associations With Atrial Fibrillation.
Cancer
Germline microsatellite genotypes differentiate children with medulloblastoma.
Cancer
Genomic characterization of a PPP1CB-ALK fusion with fusion gene amplification in a congenital glioblastoma.
Cancer
Genomic analysis and preclinical xenograft model development identify potential therapeutic targets for MYOD1-mutant soft-tissue sarcoma of childhood.
Congenital Disorder
Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect.
Congenital Disorder
Genetic models and approaches to study orofacial clefts.
Cross Condition
Genetic association analysis of 77,539 genomes reveals rare disease etiologies.
Congenital Disorder
Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects.
Cross Condition
GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data.
Cross Condition
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies.
Congenital Disorder
Disease-associated c-MYC downregulation in human disorders of transcriptional regulation.
Cancer
Development and Clinical Validation of a Large Fusion Gene Panel for Pediatric Cancers.
Congenital Disorder
Detecting Gene-Environment Interaction for Maternal Exposures Using Case-Parent Trios Ascertained Through a Case With Non-Syndromic Orofacial Cleft.
Congenital Disorder
Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.
Congenital Disorder
Decreased ACKR3 (CXCR7) function causes oculomotor synkinesis in mice and humans.
Cross Condition
De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families.
Congenital Disorder
Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease.
Cancer
Comprehensive Serum Proteome Profiling of Cytokine Release Syndrome and Immune Effector Cell-Associated Neurotoxicity Syndrome Patients with B-Cell ALL Receiving CAR T19.
Cross Condition
Comprehensive identification of transposable element insertions using multiple sequencing technologies.
Congenital Disorder
Closing in on Mechanisms of Open Neural Tube Defects.
Cancer
Clinically Relevant and Minimally Invasive Tumor Surveillance of Pediatric Diffuse Midline Gliomas Using Patient-Derived Liquid Biopsy.
Cancer
Children’s Oncology Group’s 2023 blueprint for research: Epidemiology.
Cancer
Children’s Oncology Group Trial AALL1231: A Phase III Clinical Trial Testing Bortezomib in Newly Diagnosed T-Cell Acute Lymphoblastic Leukemia and Lymphoma.
Cancer
Central nervous system status is prognostic in T-cell acute lymphoblastic leukemia: a Children’s Oncology Group report.
Cancer
Cancer Informatics for Cancer Centers: Scientific Drivers for Informatics, Data Science, and Care in Pediatric, Adolescent, and Young Adult Cancer.
Cross Condition
AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification.
Cross Condition
Associations between birth defects with neural crest cell origins and pediatric embryonal tumors.
Cross Condition
annoFuse: an R Package to annotate, prioritize, and interactively explore putative oncogenic RNA fusions.
Cross Condition
An efficient linear mixed model framework for meta-analytic association studies across multiple contexts.
Cross Condition
Accurate in silico confirmation of rare copy number variant calls from exome sequencing data using transfer learning.
Congenital Disorder
Accurate diagnosis of atopic dermatitis by combining transcriptome and microbiota data with supervised machine learning.
Cross Condition
A Practical Guide for Structural Variation Detection in the Human Genome.
Cancer
A germline PALB2 pathogenic variant identified in a pediatric high-grade glioma.
Congenital Disorder
A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.
Congenital Disorder
A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease.
Cross Condition
A cross-disorder dosage sensitivity map of the human genome.
Congenital Disorder
AXIN1 mutations in nonsyndromic craniosynostosis.
Cross Condition
High Comorbidity of Pediatric Cancers in Patients with Birth Defects: Insights from Whole Genome Sequencing Analysis of Copy Number Variations.
Cancer
Perinatal thymic-derived CD8αβ-expressing γδ T cells are innate IFN-γ producers that expand in IL-7R-STAT5B-driven neoplasms.
Cancer
Treating sex and gender differences as a continuous variable can improve precision cancer treatments.
Congenital Disorder
Risk of meningomyelocele mediated by the common 22q11.2 deletion.
Congenital Disorder
Regulatory elements in SEM1-DLX5-DLX6 (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits.
Congenital Disorder
Investigating gene functions and single-cell expression profiles of de novo variants in orofacial clefts.
ALK upregulates POSTN and WNT signaling to drive neuroblastoma
Congenital Disorder
Functional dissection of human cardiac enhancers and noncoding de novo variants in congenital heart disease
Cross Condition
Deciphering complex breakage-fusion-bridge genome rearrangements with Ambigram
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
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
Congenital Disorder
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders
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