Research output per year
Research output per year
Personal profile
Research interests
I joined the division of genetics and genomic medicine at St. Louis Children’s Hospital in September 2009. I am Board certified in Clinical Genetics and Medical Biochemical Genetics. My special interests are in genomics and genomic disorders, cytogenetic abnormalities, microarray technology, skeletal dysplasia, the genetic basis of autism, and metabolic conditions. I am using reverse genomics to characterize the phenotypes of genomic disorders with special focus on 16p11.2 rearrangements. I am working to develop novel methods for detection of metabolic conditions. I am a co-director of the Women and Infants’ Health Specimen Consortium (WIHSC) and am investigating metabolomics and feto-maternal interaction during pregnancy.
Clinical interests
genetic counseling, birth defects, screening for newborns, inborn metabolic diseases, genetic syndromes, familial cancer syndromes, chromosomal abnormalities, autism spectrum disorders, cytogenetic abnormalities, microarray technology, and metabolic conditions, skeletal dysplasia
Available to Mentor:
- PhD/MSTP Students
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Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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CAMTA1-related disorder: Phenotypic and molecular characterization of 26 new individuals and literature review
Al-Kateb, H., Au, P. Y. B., Berland, S., Cogne, B., Demurger, F., Fluss, J., Isidor, B., Frank, L. M., Varvagiannis, K., Koolen, D. A., McDonald, M., Montgomery, S., Moortgat, S., Deprez, M., Karadurmus, D., Paulsen, J., Reis, A., Rieger, M., Vasileiou, G. & Willing, M. & 1 others, , Mar 2024, In: Clinical Genetics. 105, 3, p. 294-301 8 p.Research output: Contribution to journal › Article › peer-review
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Case report: ocular manifestations of a gain-of-function mutation in CLCN6, a newly diagnosed disease
Undiagnosed Diseases Network, 2024, In: Ophthalmic Genetics. 45, 3, p. 271-274 4 p.Research output: Contribution to journal › Article › peer-review
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MYSM1 attenuates DNA damage signals triggered by physiologic and genotoxic DNA breaks
Mathias, B., O'Leary, D., Saucier, N., Ahmad, F., White, L. S., Russell, L. M., Shinawi, M., Smith, M. J., Abraham, R. S., Cooper, M. A., Kitcharoensakkul, M., Green, A. M. & Bednarski, J. J., Apr 2024, In: Journal of Allergy and Clinical Immunology. 153, 4, p. 1113-1124.e7Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Osteopathia striata with cranial sclerosis as a cancer predisposition syndrome: The first report of neuroblastoma and review of all cancers in OSCS
Abu-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
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Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt
Genomics England Research Consortium, Shepherdson, J. L., Hutchison, K., Don, D. W., McGillivray, G., Choi, T. I., Allan, C. A., Amor, D. J., Banka, S., Basel, D. G., Buch, L. D., Carere, D. A., Carroll, R., Clayton-Smith, J., Crawford, A., Dunø, M., Faivre, L., Gilfillan, C. P., Gold, N. B. & Gripp, K. W. & 37 others, , Mar 7 2024, In: American journal of human genetics. 111, 3, p. 487-508 22 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations