Kajia Cao
University of Pennsylvania
H-index: 23
North America-United States
Top articles of Kajia Cao
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
Uncovering the Genetic Etiology of Inherited Bone Marrow Failure Syndromes Using a Custom-Designed Next-Generation Sequencing Panel | The Journal of Molecular Diagnostics | Fumin Lin Kajia Cao Fengqi Chang Joseph H Oved Minjie Luo | 2024/3/1 |
P623: Cytogenetic findings in a clinical next generation sequencing panel for very early onset inflammatory bowel disease | Genetics in Medicine Open | Hadia Hijazi Tamara Luke Kieran Pechter Archana Tare Kajia Cao | 2024/1/1 |
Comprehensive gene panel testing for hearing loss in children: Understanding factors influencing diagnostic yield | The Journal of Pediatrics | Nobuko Yamamoto Jorune Balciuniene Tiffiney Hartman Maria Alejandra Diaz-Miranda Emma Bedoukian | 2023/11/1 |
Model performance and interpretability of semi-supervised generative adversarial networks to predict oncogenic variants with unlabeled data (vol 24, 43, 2023) | Zilin Ren Quan Li Kajia Cao Marilyn M Li Yunyun Zhou | 2023/2/9 | |
P588: Identification of NF1-associated tumor mutations in plasma cfDNA and its clinical application | Genetics in Medicine Open | Feng Xu Ariel Long Matthew Lueder Kajia Cao Weixuan Fu | 2023/1/1 |
Cancer Predisposition Genetic Testing Among Children with Hematologic Malignancies | Blood | Haley Newman Mary Egan Clark Suzanne P MacFarland Garrett M Brodeur Stephen P Hunger | 2023/11/28 |
Best practice for clinical somatic variant interpretation and reporting | Jeffrey Schubert Jinhua Wu Marilyn M Li Kajia Cao | 2022/9/1 | |
eP313: Too few or too many? Variant reporting burden and diagnostic comparisons of an extensive gene panel with exome-sequencing in immunodeficiency | Genetics in Medicine | Erfan Aref-Eshghi Kajia Cao Weixuan Fu Kathleen Wood Nancy Spinner | 2022/3/1 |
eP288: Genomic characterization of a TP53 tandem duplication in a pediatric patient with Li-Fraumeni syndrome | Genetics in Medicine | Feng Xu Erfan Aref-Eshghi Jinhua Wu Jeffrey Schubert Maha Patel | 2022/3/1 |
Novel ATXN1/ATXN1L::NUTM2A fusions identified in aggressive infant sarcomas with gene expression and methylation patterns similar to CIC-rearranged sarcoma | Acta Neuropathologica Communications | Feng Xu Angela N Viaene Jenny Ruiz Jeffrey Schubert Jinhua Wu | 2022/7/14 |
Molecular diagnostic outcomes from 700 cases: What can we learn from a retrospective analysis of clinical exome sequencing? | The Journal of Molecular Diagnostics | Jill R Murrell Addie May I Nesbitt Samuel W Baker Kieran B Pechter Jorune Balciuniene | 2022/3/1 |
The spectrum of FGFR mutations in pediatric and young adult solid tumor | Cancer Research | Jinhua Wu Jeffrey Schubert Feng Xu Ariel Long Maha Patel | 2022/6/15 |
Correction: Model performance and interpretability of semi-supervised generative adversarial networks to predict oncogenic variants with unlabeled data | BMC bioinformatics | Zilin Ren Quan Li Kajia Cao Marilyn M Li Yunyun Zhou | 2022 |
CancerVar: An artificial intelligence–empowered platform for clinical interpretation of somatic mutations in cancer | Science Advances | Quan Li Zilin Ren Kajia Cao M Marilyn Li Kai Wang | 2022/5/6 |
Advanced approach for comprehensive mtDNA genome testing in mitochondrial disease | Molecular genetics and metabolism | Jing Wang Jorune Balciuniene Maria Alejandra Diaz-Miranda Elizabeth M McCormick Erfan Aref-Eshghi | 2022/1/1 |
134. Novel fusions in aggressive infant sarcomas: Expanding the scope of'CIC-rearranged'sarcoma without CIC rearrangement | Cancer Genetics | Feng Xu Jenny Ruiz Jeffery Schubert Jinhua Wu Jiani Chen | 2022/11/1 |
A novel TP53 tandem duplication in a child with Li–Fraumeni syndrome | Molecular Case Studies | Feng Xu Erfan Aref-Eshghi Jinhua Wu Jeffrey Schubert Gerald Wertheim | 2022/4/1 |
Genomic characterization of a PPP1CB-ALK fusion with fusion gene amplification in a congenital glioblastoma | Cancer Genetics | Yiming Zhong Fumin Lin Feng Xu Jeff Schubert Jinhua Wu | 2021/4/1 |
Clinical impact of genomic characterization of 15 patients with acute megakaryoblastic leukemia–related malignancies | Molecular Case Studies | Emilie Lalonde Stefan Rentas Gerald Wertheim Kajia Cao Lea F Surrey | 2021/4/1 |
Clinical significance of serial tumor next generation sequencing (NGS) in 155 pediatric cancer patients. | Xiaonan Zhao Marilyn M Li Jeff Schubert Jinhua Wu Fumin Lin | 2020/5/20 |
