Gwang-Jin Kim

PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans

Anaïs Grall, Éric Guaguère, Sandrine Planchais et al. · Nature Genetics · 2012 · 244 citations · Full text

Genetic Disorder, Genetics, Pathogenesis +4

Mutations in CERS3 Cause Autosomal Recessive Congenital Ichthyosis in Humans

Franz P.W. Radner, Slaheddine Marrakchi, Peter Kirchmeier et al. · PLoS Genetics · 2013 · 154 citations · Full text

Developmental Anomaly, Mendelian Disorder, Splice Site Mutation +11

Eomes and Brachyury control pluripotency exit and germ-layer segregation by changing the chromatin state

Jelena Tošić, Gwang-Jin Kim, Mihael Pavlovic et al. · Nature Cell Biology · 2019 · 138 citations

Chromatin, Developmental Biology, Chromatin Structure +13

Copy number variation of two separate regulatory regions upstream of <i>SOX9</i> causes isolated 46,XY or 46,XX disorder of sex development

Gwang-Jin Kim, Elisabeth Sock, Astrid Buchberger et al. · Journal of Medical Genetics · 2015 · 108 citations

Sox9 and Sox8 protect the adult testis from male-to-female genetic reprogramming and complete degeneration

Francisco J. Barrionuevo, Alicia Hurtado, Gwang-Jin Kim et al. · eLife · 2016 · 103 citations · Full text