Jiin Ying Lim

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

Margot R.F. Reijnders, Vasilios Zachariadis, Brooke Latour et al. · The American Journal of Human Genetics · 2016 · 106 citations · Full text

Developmental Anomaly, Developmental Biology, Mendelian Disorder +11

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Holger Hengel, Célia Bosso-Lefèvre, George Grady et al. · Nature Communications · 2020 · 52 citations · Full text

Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome

Carine Bonnard, Mohammad Shboul, Seyed Hassan Tonekaboni et al. · European Journal of Medical Genetics · 2018 · 36 citations

Ciliopathy-associated Gene Cplane1, Joubert Syndrome, Genetic Disorder +8

Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management

Neha Bhatia, Jiin Ying Lim, Carine Bonnard et al. · Archives of Disease in Childhood · 2020 · 34 citations

A Report on Ten Asia Pacific Countries on Current Status and Future Directions of the Genetic Counseling Profession: The Establishment of the Professional Society of Genetic Counselors in Asia

Mercy Laurino, Kathleen A. Leppig, Peter James B. Abad et al. · Journal of Genetic Counseling · 2017 · 33 citations

Family Medicine, Counseling, Genetic Testing +17