Huey Yin Leong

De novo hotspot variants in <i>CYFIP2</i> cause early‐onset epileptic encephalopathy

Mitsuko Nakashima, Mitsuhiro Kato, Kazushi Aoto et al. · Annals of Neurology · 2018 · 83 citations

Life Sciences, Molecular Biology, Molecular Genetics +17

Biallelic TBCD Mutations Cause Early-Onset Neurodegenerative Encephalopathy

Noriko Miyake, Ryoko Fukai, Chihiro Ohba et al. · The American Journal of Human Genetics · 2016 · 65 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

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

Life Sciences, Genetics, Molecular Genetics +17

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals

Ken Saida, Reza Maroofian, Toru Sengoku et al. · Genetics in Medicine · 2022 · 39 citations · Full text

Life Sciences, Neurology, Neuroscience +16

Clinical, biochemical and genetic profiles of patients with mucopolysaccharidosis type IVA (Morquio A syndrome) in Malaysia: the first national natural history cohort study

Huey Yin Leong, Nor Azimah Abdul Azize, Hui Bein Chew et al. · Orphanet Journal of Rare Diseases · 2019 · 24 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15