Winnie Ong

Failure of human rhombic lip differentiation underlies medulloblastoma formation

Liam D. Hendrikse, Parthiv Haldipur, Olivier Saulnier et al. · Nature · 2022 · 148 citations · Full text

Histopathology, Pathology, Lipid Science +4

Metabolic Regulation of the Epigenome Drives Lethal Infantile Ependymoma

Kulandaimanuvel Antony Michealraj, Sachin Kumar, Leo J.Y. Kim et al. · Cell · 2020 · 130 citations · Full text

Epigenetic Change, Epigenomics, Pathology +3

Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay

Hirotomo Saitsu, Miho Watanabe, Tenpei Akita et al. · Scientific Reports · 2016 · 99 citations · Full text

Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients

Futoshi Sekiguchi, Yoshinori Tsurusaki, Nobuhiko Okamoto et al. · Journal of Human Genetics · 2019 · 64 citations · Full text

Mendelian Disorder, Genetic Disorder, Genetics +7

Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short‐rib thoracic dystrophies

Aideen McInerney‐Leo, Jennifer Harris, Paul Leo et al. · Clinical Genetics · 2014 · 53 citations

Short‐rib Thoracic Dystrophies, Genetics, Pathology +17