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 · 80 citations

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

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 · 34 citations

Neurodegenerative Diseases, Psychiatry, Homozygous Slc18a2 Variants +8

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

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 · 21 citations · Full text