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 · 109 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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 · 38 citations

Life Sciences, Genetics, Molecular Genetics +7

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 · 37 citations

Life Sciences, Genetics, Molecular Genetics +17

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 · 35 citations

Life Sciences, Counselor Education, Genetics +6