Shinawi Lab

The research of Marwan Shinawi, MD, focuses on clinical genomics and the application of exome and genome sequencing as well as microarray analysis for disease gene discovery of undiagnosed genetic syndromes.

Principal investigator

Marwan Shinawi, MD

Professor, Pediatrics Division of Genetics and Genomic Medicine

• Phone: 314-454-6093
• Email: mshinawi@wustl.edu

Recent publications

• Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
  December 1, 2022
  Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndromeCousin, M. A., Veale, E. L., Dsouza, N. R., Tripathi, S., Holden, R. G., Arelin, M., Beek, G., Bekheirnia, M. R., Beygo, J., Bhambhani, V., Bialer, M., Bigoni, S., Boelman, C., Carmichael, J., Courtin, T., Cogne, B., Dabaj, I., Doummar, D., Fazilleau, L., Ferlini, A., & 51 othersGavrilova, R. H., Graham, J. M., Haack, T. B., Juusola, J., Kant, S. G., Kayani, S., Keren, B., Ketteler, P., Klöckner, C., Koopmann, T. T., Kruisselbrink, T. M., Kuechler, A., Lambert, L., Latypova, X., Lebel, R. R., […]
• Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
  August 1, 2022
  Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevationWongkittichote, P., Magistrati, M., Shimony, J. S., Smyser, C., Fatemi, S. A., Fine, A. S., Bellacchio, E., Dallabona, C. & Shinawi, M., Aug 2022, In: Molecular genetics and metabolism. 136, 4, p. 260-267 8 p.Research output: Contribution to journal › Article › peer-review
• Tumor predisposition: What's the skin got to do with it?
  August 1, 2022
  Tumor predisposition: What's the skin got to do with it?Stacy, A., Shinawi, M. & Coughlin, C. C., Aug 1 2022, In: Current opinion in pediatrics. 34, 4, p. 349-358 10 p.Research output: Contribution to journal › Review article › peer-review
• De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway
  July 14, 2022
  De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathwayItalian Undiagnosed Diseases Network, Jul 14 2022, In: Human Genetics and Genomics Advances. 3, 3, 100111.Research output: Contribution to journal › Article › peer-review
• Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder
  July 1, 2022
  Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorderMeuwissen, M., Verstraeten, A., Ranza, E., Iwaszkiewicz, J., Bastiaansen, M., Mateiu, L., Nemegeer, M., Meester, J. A. N., Afenjar, A., Amaral, M., Ballhausen, D., Barnett, S., Barth, M., Asselbergh, B., Spaas, K., Heeman, B., Bassetti, J., Blackburn, P., Schaer, M., Blanc, X., & 21 othersZoete, V., Casas, K., Courtin, T., Doummar, D., Guerry, F., Keren, B., Pappas, J., Rabin, R., Begtrup, A., Shinawi, M., Vulto-van Silfhout, A. T., Kleefstra, T., Wagner, M., Ziegler, A., Schaefer, E., Gerard, B., De Bie, C. I., […]