Shinawi lab

Shinawi’s special interests are in genomics and genomic disorders, cytogenetic abnormalities, microarray technology, skeletal dysplasia, the genetic basis of autism and metabolic conditions. He is using reverse genomics to characterize the phenotypes of genomic disorders with special focus on 16p11.2 rearrangements. He is working to develop novel methods for detection of metabolic conditions. Shinawi is co-director of the Women and Infants’ Health Specimen Consortium (WIHSC) and is investigating metabolomics and feto-maternal interaction during pregnancy.

Principal investigator

Recent publications

• Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder
  January 1, 2025
  Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental DisorderBlackburn, P. R., Ebstein, F., Hsieh, T. C., Motta, M., Radio, F. C., Herkert, J. C., Rinne, T., Thiffault, I., Rapp, M., Alders, M., Maas, S., Gerard, B., Smol, T., Vincent-Delorme, C., Cogné, B., Isidor, B., Vincent, M., Bachmann-Gagescu, R., Rauch, A. & Joset, P. & 59 others, Ferrero, G. B., Ciolfi, A., Husson, T., Guerrot, A. M., Bacino, C., Macmurdo, C., Thompson, S. S., Rosenfeld, J. A., Faivre, L., Mau-Them, F. T., Deb, W., Vignard, V., Agrawal, P. B., Madden, J. A., Goldenberg, A., Lecoquierre, F., Zech, M., Prokisch, H., Necpál, […]
• Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5
  January 1, 2025
  Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5Undiagnosed Diseases Network, Jan 2025, In: Molecular genetics and metabolism. 144, 1, 109004.Research output: Contribution to journal › Article › peer-review
• Child Neurology: Five-Year Update on Siblings With Riboflavin Transporter Deficiency: Stable Visual and Neurologic Status With Continued Riboflavin Therapy
  December 10, 2024
  Child Neurology: Five-Year Update on Siblings With Riboflavin Transporter Deficiency: Stable Visual and Neurologic Status With Continued Riboflavin TherapyO'Brien, M. A., Culican, S., Shinawi, M. S. & Zaidman, C. M., Dec 10 2024, In: Neurology. 103, 11, p. e209969Research output: Contribution to journal › Article › peer-review
• Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
  December 1, 2024
  Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expressionPehlivan, D., Bengtsson, J. D., Bajikar, S. S., Grochowski, C. M., Lun, M. Y., Gandhi, M., Jolly, A., Trostle, A. J., Harris, H. K., Suter, B., Aras, S., Ramocki, M. B., Du, H., Mehaffey, M. G., Park, K. H., Wilkey, E., Karakas, C., Eisfeldt, J. J., Pettersson, M. & Liu, L. & 23 others, Shinawi, M. S., Kimonis, V. E., Wiszniewski, W., Mckenzie, K., Roser, T., Vianna-Morgante, A. M., Cornier, A. S., Abdelmoity, A., Hwang, J. P., Jhangiani, S. N., Muzny, D. M., […]
• Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS
  October 1, 2024
  Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCSAbu-El-Haija, A., Dillahunt, K., Safina, N., Aldeeri, A., Glavan, T., Mihalek, I. & Shinawi, M., Oct 2024, In: American Journal of Medical Genetics, Part A. 194, 10, e63709.Research output: Contribution to journal › Article › peer-review