• 5305 Citations

Research output per year

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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.

Areas of Clinical Interest

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

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Research Output

Abnormally increased carotid intima media-thickness and elasticity in patients with Morquio A disease

Wang, R. Y., Rudser, K. D., Dengel, D. R., Evanoff, N., Steinberger, J., Movsesyan, N., Garrett, R., Christensen, K., Boylan, D., Braddock, S. R., Shinawi, M., Gan, Q. & Montanõ, A. M., Mar 17 2020, In : Orphanet Journal of Rare Diseases. 15, 1, 73.

Research output: Contribution to journalArticle

Open Access
  • Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis (Frontiers in Neuroscience, (2019), 13, 10.3389/fnins.2019.00394)

    Kennedy, A. D., Pappan, K. L., Donti, T., Delgado, M. R., Shinawi, M., Pearson, T. S., Lalani, S. R., Craigen, W. J., Sutton, V. R., Evans, A. M., Sun, Q., Emrick, L. T. & Elsea, S. H., Jan 29 2020, In : Frontiers in Neuroscience. 13, 1344.

    Research output: Contribution to journalComment/debate

    Open Access
  • Delineation of a Human Mendelian Disorder of the DNA Demethylation Machinery: TET3 Deficiency

    Beck, D. B., Petracovici, A., He, C., Moore, H. W., Louie, R. J., Ansar, M., Douzgou, S., Sithambaram, S., Cottrell, T., Santos-Cortez, R. L. P., Prijoles, E. J., Bend, R., Keren, B., Mignot, C., Nougues, M. C., Õunap, K., Reimand, T., Pajusalu, S., Zahid, M., Saqib, M. A. N. & 12 others, Buratti, J., Seaby, E. G., McWalter, K., Telegrafi, A., Baldridge, D., Shinawi, M., Leal, S. M., Schaefer, G. B., Stevenson, R. E., Banka, S., Bonasio, R. & Fahrner, J. A., Feb 6 2020, In : American journal of human genetics. 106, 2, p. 234-245 12 p.

    Research output: Contribution to journalArticle

  • 2 Scopus citations

    Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

    Krab, L. C., Marcos-Alcalde, I., Assaf, M., Balasubramanian, M., Andersen, J. B., Bisgaard, A. M., Fitzpatrick, D. R., Gudmundsson, S., Huisman, S. A., Kalayci, T., Maas, S. M., Martinez, F., McKee, S., Menke, L. A., Mulder, P. A., Murch, O. D., Parker, M., Pie, J., Ramos, F. J., Rieubland, C. & 6 others, Rosenfeld Mokry, J. A., Scarano, E., Shinawi, M., Gómez-Puertas, P., Tümer, Z. & Hennekam, R. C., May 1 2020, In : Human genetics. 139, 5, p. 575-592 18 p.

    Research output: Contribution to journalArticle

    Open Access
  • 1 Scopus citations
    Open Access