Author details

Full Name

Kajia Cao

Affiliation

ORCID

Career Start Year

2004

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
37259034	Correction: Model performance and interpretability of semi-supervised generative adversarial networks to predict oncogenic variants with unlabeled data.	BMC Bioinformatics	2023
37473993	Comprehensive Gene Panel Testing for Hearing Loss in Children: Understanding Factors Influencing Diagnostic Yield.	J Pediatr	2023
36759776	Model performance and interpretability of semi-supervised generative adversarial networks to predict oncogenic variants with unlabeled data.	BMC Bioinformatics	2023
35065284	Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?	J Mol Diagn	2022
35836290	Novel ATXN1/ATXN1L::NUTM2A fusions identified in aggressive infant sarcomas with gene expression and methylation patterns similar to CIC-rearranged sarcoma.	Acta Neuropathol Commun	2022
36150821	Best Practice for Clinical Somatic Variant Interpretation and Reporting.	Clin Lab Med	2022
35544644	CancerVar: An artificial intelligence-empowered platform for clinical interpretation of somatic mutations in cancer.	Sci Adv	2022
35232817	A novel <i>TP53</i> tandem duplication in a child with Li-Fraumeni syndrome.	Cold Spring Harb Mol Case Stud	2022
34969639	Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease.	Mol Genet Metab	2022
33341678	Genomic characterization of a PPP1CB-ALK fusion with fusion gene amplification in a congenital glioblastoma.	Cancer Genet	2021
33832921	Clinical impact of genomic characterization of 15 patients with acute megakaryoblastic leukemia-related malignancies.	Cold Spring Harb Mol Case Stud	2021
32554798	A germline <i>PALB2</i> pathogenic variant identified in a pediatric high-grade glioma.	Cold Spring Harb Mol Case Stud	2020
31672855	Using Machine Learning to Identify True Somatic Variants from Next-Generation Sequencing.	Clin Chem	2020
31255796	Development and Clinical Validation of a Large Fusion Gene Panel for Pediatric Cancers.	J Mol Diagn	2019
30577886	Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.	J Mol Diagn	2019
30626929	Rapid and accurate interpretation of clinical exomes using Phenoxome: a computational phenotype-driven approach.	Eur J Hum Genet	2019
30977854	Use of a Dynamic Genetic Testing Approach for Childhood-Onset Epilepsy.	JAMA Netw Open	2019
31133068	Clinical utility of custom-designed NGS panel testing in pediatric tumors.	Genome Med	2019
31443733	Variant Interpretation for Cancer (VIC): a computational tool for assessing clinical impacts of somatic variants.	Genome Med	2019
29419820	Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.	Genet Med	2018
30377334	Correction: Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.	Genet Med	2018
29389922	Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.	Genet Med	2018
29595809	AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss.	Genet Med	2018
27763634	Phenotypic predictors and final diagnoses in patients referred for RASopathy testing by targeted next-generation sequencing.	Genet Med	2017
28686853	WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.	Am J Hum Genet	2017
28502725	Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.	J Mol Diagn	2017
26111154	Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.	Am J Med Genet A	2015
25847449	Combination of 12-O-tetradecanoylphorbol-13-acetate with diethyldithiocarbamate markedly inhibits pancreatic cancer cell growth in 3D culture and in immunodeficient mice.	International Journal of Molecular Medicine	2015
26159996	H3K36 methylation promotes longevity by enhancing transcriptional fidelity.	Genes Dev	2015
25058678	Mung bean nuclease treatment increases capture specificity of microdroplet-PCR based targeted DNA enrichment.	PLoS ONE	2014
24814484	Inactivation of yeast Isw2 chromatin remodeling enzyme mimics longevity effect of calorie restriction via induction of genotoxic stress response.	Cell Metab	2014
25124333	Association of G-quadruplex forming sequences with human mtDNA deletion breakpoints.	BMC Genomics	2014
23393050	Potent obatoclax cytotoxicity and activation of triple death mode killing across infant acute lymphoblastic leukemia.	Blood	2013
22554416	Cellular, synaptic, and biochemical features of resilient cognition in Alzheimer's disease.	Neurobiol Aging	2013
23934658	Lamin B1 depletion in senescent cells triggers large-scale changes in gene expression and the chromatin landscape.	Genes Dev	2013
24098339	Analysis of nonlinear gene expression progression reveals extensive pathway and age-specific transitions in aging human brains.	PLoS ONE	2013
22343898	The microRNA miR-34 modulates ageing and neurodegeneration in Drosophila.	Nature	2012
22652626	Computational detection and analysis of sequences with duplex-derived interstrand G-quadruplex forming potential.	Methods	2012
19966276	Altered gene expression in the Werner and Bloom syndromes is associated with sequences having G-quadruplex forming potential.	Nucleic Acids Research	2010
20941385	Genome-wide double-stranded RNA sequencing reveals the functional significance of base-paired RNAs in Arabidopsis.	PLoS Genetics	2010
20927326	Age-correlated gene expression in normal and neurodegenerative human brain tissues.	PLoS ONE	2010
19194464	Genomic analyses reveal global functional alterations that promote tumor growth and novel tumor suppressor genes in natural killer-cell malignancies.	Leukemia	2009
15215171	BCL2 translocation defines a unique tumor subset within the germinal center B-cell-like diffuse large B-cell lymphoma.	Am J Pathol	2004
15217252	Algorithmic fusion of gene expression profiling for diffuse large B-cell lymphoma outcome prediction.		2004