Joanna Kaplanis

Joanna Kaplanis

Wellcome Trust Sanger Institute - Hinxton / United Kingdom
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 4469047
person_outline Joanna Kaplanis's MOST POPULAR ARTICLES
1-) Prevalence and architecture of de novo mutations in developmental disorders Nature 542 (7642), 433-438, 2017
2-) Evidence for 28 genetic disorders discovered by combining healthcare and research data Nature 586 (7831), 757-762, 2020
3-) Quantitative analysis of population-scale family trees with millions of relatives Science 360 (6385), 171-175, 2018
4-) Histone lysine methylases and demethylases in the landscape of human developmental disorders The American Journal of Human Genetics 102 (1), 175-187, 2018
5-) Quantifying the contribution of recessive coding variation to developmental disorders Science 362 (6419), 1161-1164, 2018