K. Rethanavelu

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy

S. Antonarakis, A. Takata, N. Matsumoto, 2020, Human mutation.

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

J. K. Joseph, S. Teo, E. Bleiker, 2021, Journal of Medical Genetics.

Clonic seizures, continuous spikes-and-waves during slow sleep, choreoathetosis and response to sulthiame in a child with FRRS1L encephalopathy

A. R. Mohamed, T. Khoo, K. Rethanavelu, 2021, Brain and Development.

Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome

B. Chung, C. C. Mak, H. Luk, 2019, American journal of medical genetics. Part A.

Coffin–Lowry syndrome in Chinese

B. Chung, H. Luk, I. Lo, 2019, American journal of medical genetics. Part A.

A case of G1013R FBN1 mutation: A potential genotype–phenotype correlation in severe Marfan syndrome

Peter Hui, B. Chung, R. Wong, 2020, American journal of medical genetics. Part A.