Author

Kavitha Rethanavelu

Observed name: Rethanavelu, Kavitha

Institution: Hospital Kuala Lumpur

Observed institutions: Ministry of Health, Hospital Kuala Lumpur, University of Hong Kong

ORCID: 0000-0002-5213-2588

Observed ORCID: 0000-0002-5213-2588

OpenAlex ID: A5060081422

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

2020 · Toshiyuki Itai, Kohei Hamanaka, et al. · Human Mutation · 38

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

2021 · Sook-Yee Yoon, Siu Wan Wong, et al. · Journal of Medical Genetics · 24

Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome

2019 · Kavitha Rethanavelu, Jasmine L. F. Fung, et al. · American Journal of Medical Genetics Part A · 14

Coffin–Lowry syndrome in Chinese

2019 · Jasmine L. F. Fung, Kavitha Rethanavelu, et al. · American Journal of Medical Genetics Part A · 11

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

2020 · Brooke R. Willis, Mianne Lee, et al. · American Journal of Medical Genetics Part A · 10

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

2021 · Dianah A. Hadi, Ahmad R. Mohamed, et al. · Brain and Development · 8

Efficacy and safety of garetosmab, an activin A-blocking antibody, in fibrodysplasia ossificans progressiva (OPTIMA): a randomised, double-blind, placebo-controlled, phase 3 trial

2026 · Riccardo Papa, Susan Rhee, et al. · The Lancet · 1

Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2

2025 · Yukina Hayashi, Keisuke Hamada, et al. · Journal of Human Genetics · 1

Holocarboxylase Synthetase Deficiency: Clinical, Biochemical and Molecular Findings in Five Malaysian Patients Including a Newborn Presenting as Collodion Baby

2025 · Siew Li Ting, Yusnita Yakob, et al. · JIMD Reports

Germline BRCA1 and BRCA2 variants in a population based cohort of ovarian, peritoneal or fallopian tube cancer patients in Malaysia

2017 · Joanna Lim, S.Y. Lau, et al. · Advances in Modern Oncology Research

Psychosocial aspects of mainstreaming genetic counselling for genetic testing of BRCA1 and BRCA2 in ovarian cancer patients in Malaysia (MaGiC)

2017 · Siu Wan Wong, N.S. Ahmad Bashah, et al. · Advances in Modern Oncology Research

Works count: 13

Citation count: 108

H-index: 6

I10-index: 5