Ng, Alvin Y.J.

Top Publications

Top Publications Authored or Co-Authored by "Ng, Alvin Y.J."

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

  Nature Communications, Volume 11, No. 1, Article 595, Year 2020, Citations 85
• Discovery of a genetic module essential for assigning left–right asymmetry in humans and ancestral vertebrates

  Nature Genetics, Volume 54, No. 1, Year 2022, Citations 41
• CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays

  American Journal of Human Genetics, Volume 101, No. 3, Year 2017, Citations 37
• Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome

  European Journal of Medical Genetics, Volume 61, No. 10, Year 2018, Citations 24
• Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder

  Genetics in Medicine, Volume 25, No. 9, Article 100893, Year 2023, Citations 20