Biblio
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease. Nat Genet. 2022.
Genetic Associations Between Modifiable Risk Factors and Alzheimer Disease. JAMA Netw Open. 2023;6(5):e2313734.
In Vitro and In Vivo Modulation of Alternative Splicing by the Biguanide Metformin. Mol Ther Nucleic Acids. 2015;4:e262.
The influence of obesity-related factors in the etiology of renal cell carcinoma-A mendelian randomization study. PLoS Med. 2019;16(1):e1002724.
Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia. Cell Rep. 2019;28(6):1596-1611.e10.
MXD4/MAD4 regulates human keratinocyte precursor fate. J Invest Dermatol. 2022.
. Operational tolerance after hematopoietic stem cell transplantation is characterized by distinct transcriptional, phenotypic, and metabolic signatures. Sci Transl Med. 2022;14(633):eabg3083.
TAD boundary deletion causes PITX2-related cardiac electrical and structural defects. Nat Commun. 2024;15(1):3380.