Mullegama, Sureni V.

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

Talkowski, M. E., Mullegama, S. V., Rosenfeld, J. A., van Bon, B. W. M., Shen, Y., Repnikova, E. A., Gastier-Foster, J., Thrush, D. L., Kathiresan, S., Ruderfer, D. M., et al. (2011) · The American Journal of Human Genetics

Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Cited by 249

Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity

Williams, S. R., Zies, D., Mullegama, S. V., Grotewiel, M. S., & Elsea, S. H. (2012) · The American Journal of Human Genetics

Circadian rhythm and melatoninSleep and Wakefulness Research

Cited by 115

Expansion of the Genotypic and Phenotypic Spectrum of WASF1-Related Neurodevelopmental Disorder

Srivastava, S., Macke, E. L., Swanson, L. C., Coulter, D., Klee, E. W., Mullegama, S. V., Xie, Y., Lanpher, B. C., Bedoukian, E. C., Skraban, C. M., et al. (2021) · Brain Sciences

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 14

De novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations

Dias, K.-R., Carlston, C. M., Blok, L. E. R., De Hayr, L., Nawaz, U., Evans, C.-A., Bayrak-Toydemir, P., Htun, S., Zhu, Y., Ma, A., et al. (2022) · Genetics in Medicine

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 13

Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Küry, S., Stanton, J. E., van Woerden, G., Hsieh, T.-C., Rosenfelt, C., Scott-Boyer, M. P., Most, V., Wang, T., Papendorf, J. J., de Konink, C., et al. (2024) · medRxiv

Genetics and Neurodevelopmental DisordersUbiquitin and proteasome pathways

Cited by 6

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Küry, S., Stanton, J. E., van Woerden, G. M., Bosc-Rosati, A., Hsieh, T.-C., Bray, L., Oloudé, M., Rosenfelt, C., Scott-Boyer, M. P., Most, V., et al. (2025) · Nature Communications

Ubiquitin and proteasome pathwaysGenetics and Neurodevelopmental Disorders

Cited by 3