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 Students
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Collaborations and top research areas from the last five years
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De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder
Undiagnosed Diseases Network, Apr 2026, In: European Journal of Human Genetics. 34, 4, p. 554-564 11 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Link opens in a new tab Scopus citations -
RAD51-Related Fanconi Anemia: Expanding the Phenotypic Spectrum and Strong Association With VACTERL
Altintas, B., Stacy, A., Gettinger, K., Wilson, D. B. & Shinawi, M. S., Mar 2026, In: Clinical Genetics. 109, 3, p. 591-597 7 p.Research output: Contribution to journal › Article › peer-review
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Sialidosis type I: How to alleviate disabling myoclonic seizures?—A multicenter analysis of eight cases and review of the literature
Gburek-Augustat, J., Lee, I. C., Rubino, M., Topçu, V., Chavez-Castillo, M., Tu, S. C., Shinawi, M., Alfradique-Dunham, I., Valtcheva, M., Adarmes-Gómez, A., Macias-Garcia, D., Laura Muñoz-Delgado, L., Jesús, S., Mir, P., Merkenschlager, A. & Coppola, A., Apr 2026, In: Epilepsia Open. 11, 2, p. 577-591 15 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5
Undiagnosed Diseases Network, Jan 2025, In: Molecular genetics and metabolism. 144, 1, 109004.Research output: Contribution to journal › Article › peer-review
Open Access -
Atypical Presentation of IARS1-Related Disorder: Expanding the Phenotype and Genotype
Wongkittichote, P., Jonatzke, K. E., Hyde, B. T., Peterson, L. W., He, M., McKinstry, R. C., Antonellis, A. & Shinawi, M., May 2025, In: JIMD Reports. 66, 3, e70020.Research output: Contribution to journal › Article › peer-review
Open Access1 Link opens in a new tab Scopus citations