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The Australasian Journal of Dermatology|June 30, 2023
Monozygotic twins with identical premature timing of acne onset: A Case reportAmanda S H Tan, Shi Yun Chia, Jiin Ying Lim, et al.BMJ Case Reports|August 26, 2025
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) due to polyAla site variant in FOXL2: diagnostic challenges with NGSHarshini Hariram, Khadijah Rafi'ee, Jiin Ying Lim, et al.American Journal of Medical Genetics. Part A|September 26, 2022
Reduced resource utilization with early use of next-generation sequencing in rare genetic diseases in an Asian cohortNuraini Nazeha, Ai Ling Koh, Sylvia Kam, et al.Molecular Syndromology|May 15, 2025
A Novel GATAD2B Frameshift Variant Causes GATAD2B-Associated Neurodevelopmental Disorder with CamptodactylyCheryl Weiqi Tan, Jiin Ying Lim, Khadijah Rafi'ee, et al.Clinical Dysmorphology|April 16, 2019
A novel Ser40Trp variant in IFITM5 in a family with osteogenesis imperfecta and review of the literatureJiin Ying Lim, Neha Singh Bhatia, Rashida Farhad Vasanwala, et al.Journal of Pediatric Genetics|April 24, 2023
Novel Variants and Clinical Characteristics of 16 Patients from Southeast Asia with Genetic Variants in Neurofibromin-1Grace Lin, Heming Wei, Angeline H M Lai, et al.Annals of the Academy of Medicine, Singapore|April 3, 2025
Premature ovarian insufficiency: When ovaries retire earlyStella Rizalina Sasha Sugianto, Lisa Webber, Farah Safdar Husain, et al.American Journal of Medical Genetics. Part A|July 22, 2025
Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2-Related Rothmund-Thomson SyndromeBeril Ay, Ozlem Akgun-Dogan, Fulya Taylan, et al.American Journal of Medical Genetics. Part A|July 8, 2022
Fibrous dysplasia in cardio-facio-cutaneous syndrome: A case report and review of literatureXiaoao Dong, Nicholas C Y Png, Marielle V Fortier, et al.Clinical Dysmorphology|May 17, 2023
DEGS1 -related leukodystrophy: a clinical report and review of literatureMelissa Song Ting Wong, Terrence Thomas, Jiin Ying Lim, et al.Pageof 4