Molecular biologist and genomics researcher with 15+ years of experience in experimental design, next-generation sequencing, and computational analysis. Skilled in optimizing laboratory workflows for efficient and accurate results. Experienced in mentoring junior scientists to foster their growth and development. Recognized for leading collaborative research projects resulting in high-impact publications and advancements in clinical practices.
Published total of 69 (First/Corresponding Author: 26)papers demonstrating expertise in:
Complete publication list available at:
https://scholar.google.com/citations?hl=en&user=9ABvvY8AAAAJ&view_op=list_works&sortby=pubdate
Recent Key Publications
1. Chen HY*, et al., Yu L#. Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese. Biol Sex Differ. 2024 Sep 16;15(1):73.
2. Liu SY, Yu L. Role of genetics and the environment in the etiology of congenital diaphragmatic hernia. World J Pediatr Surg. 2024 Aug 21;7(3):e000884.
3. Li F*, et al., Yu L#. Integrative analysis of bulk and single-cell RNA sequencing reveals the gene expression profile and the critical signaling pathways of type II CPAM. Cell & Bioscience. 2024 July 8. 10.1186/s13578-024-01276-8. Online
4. Tan Z, et al., Yu L#.Integrated bulk and single-cell RNA-sequencing reveals SPOCK2 as a novel biomarker gene in the development of congenital pulmonary airway malformation. Respir Res. 2023 May 10;24(1):127.
5. Xue Z, Chen HY, Yu L#, Jiang PF#. A systematic review and meta-analysis of the R778L mutation in ATP7B with Wilson's disease in China. Pediatr Neurol. 2023 May 8;145:135-147.
6. Jiang P, et al, Yu L#. Mitochondrial DNA variant spectrum and the association with chronic tic disorders. Eur J Neurol. 2022 Nov;29(11):3187-3196.
7. Cai R, et al, Yu L#, Fan X#, Su L#. Genotype-guided targeted treatment of KRAS-mutated arteriovenous malformations. J Eur Acad Dermatol Venereol. 2022 Sep;36(9):e708-e710.
8. Qiao L, Xu L, Yu L, et al. Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene. Am J Hum Genet. 2021 Oct 7;108(10):1964-1980.
9. Qi H*, Yu L*, etal. De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. Plos Genetics. 2018 Dec 10;14(12):e1007822.
10. Yu L*, Sawle AD*, et al. Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia. Hum Mol Genet. 2015 Aug 15;24(16):4764-73. (*co-first authors)
11. Yu L*, Bennett JT*, et al. Whole Exome Sequencing Identifies de Novo Mutations in GATA6 Associated with Congenital diaphragmatic Hernia. J Med Genet. 2014 Mar;51(3):197-202.
12. Yu L, et al. A mutation in NPAS3 segregates with Mental Illness in a small family. Mol Psychiatry. 2014 Jan;19(1):7-8.
13. Yu L, et al. Variants in GATA4 Are a Rare Cause of Familial and Sporadic Congenital Diaphragmatic Hernia. Hum Genet. 2013 Mar;132(3):285-92.
14. Yu L, et al. De novo copy number variants are associated with congenital diaphragmatic hernia. J Med Genet. 2012 Oct;49(10):650-9.
15. Chung DW, Rudnicki DD, Yu L, Margolis RL. A natural antisense transcript at the Huntington's disease repeat locus regulates HTT expression. Hum Mol Genet. 2011 Sep 1;20(17):3467-77.
Neonatal Genetic Screening-Chapter of Data analysis and Artificial Intelligence, People's Health Publishing House, Panjiayuan No. 19, Beijing, Chaoyang District, China, 12/01/2022, ISBN: 9787117336437