Lip Hen Moey

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

Joery den Hoed, Elke de Boer, Norine Voisin et al. · The American Journal of Human Genetics · 2021 · 54 citations · Full text

Neurodevelopmental Disorders, Different Neurodevelopmental Disorders, Neurodegenerative Diseases +15

Fructose-1,6-bisphosphatase deficiency as a cause of recurrent hypoglycemia and metabolic acidosis: Clinical and molecular findings in Malaysian patients

Lip Hen Moey, Nor Azimah Abdul Azize, Yusnita Yakob et al. · Pediatrics & Neonatology · 2017 · 23 citations · Full text

Oncologist-led <i>BRCA</i> counselling improves access to cancer genetic testing in middle-income Asian country, with no significant impact on psychosocial outcomes

Sook‐Yee Yoon, Siu Wan Wong, Joanna Lim et al. · Journal of Medical Genetics · 2021 · 23 citations

Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

James L. Shepherdson, Katie Hutchison, Dilan Wellalage Don et al. · The American Journal of Human Genetics · 2024 · 15 citations · Full text

Developmental Anomaly, Developmental Biology, Developmental Cognitive Neuroscience +9

Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features

Shinichi Kameyama, Takeshi Mizuguchi, Hiromi Fukuda et al. · Journal of Human Genetics · 2021 · 13 citations

Genetic Disorder, Biallelic Null Variants, Genetics +7