Author
Universidad Nacional Autónoma de MéxicoORCID 0000-0001-9425-7322Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Emmi Kapiainen, Minna K. Karjalainen, Petar B. Petrov…·Renata Prunskaite‐Hyyryläinen
The paper investigates the effect of the PKHD1L1 splice donor variant rs17368310 on female fertility, showing reduced child count in homozygous carriers across Finnish and Mexican populations.
Yajie Zhao, Maria Chukanova, Katherine A. Kentistou…·John R. B. Perry
The paper identifies protein-truncating variants in BSN associated with severe adult-onset obesity, type 2 diabetes, and fatty liver disease, with no effect on childhood adiposity.
Kathie Sun, Xiaodong Bai, Siying Chen…·Suganthi Balasubramanian
This paper presents the largest catalog of human protein-coding variation from 985,830 individuals, identifying rare variants and their functional implications for precision medicine.
Veera Manikandan Rajagopal, Kyoko Watanabe, Joelle S. Mbatchou…·Giovanni Coppola
The paper identifies rare coding variants in CHRNB2 associated with reduced smoking likelihood and links them to downstream smoking-related phenotypes.