Photo of Shad, Zohra

Zohra Shad, MD

Visiting Clinical Associate Professor (Genetics)

Department of Pediatrics

Pediatrics Residency

Pronouns: she/her/hers

Contact

Office Phone:

309-624-6872

Fax:

309-624-9524

Related Sites:

Selected Publications

  • 2024 Zohra Shad, Prisca Mbonu ; Isabella Aguiar Laiba Hassan; Elena Repnikova. “Expanding the Phenotype of EIF3F- related Neurodevelopmental Disorder”. Poster/Abstract presentation at the ACMG Annual Clinical Genetics Meeting in Toronto, Canada. March 12-16, 2024.Published in Genetics in Medicine. https://doi.org/10.1016/j.gimo.2024.101213
  • 2023 Zohra Shad, Prisca Mbonu ; Kelly Pagidas “Incidental finding of MECP2-related Disorder in a Male Infant With Chromosome 15q11.2 Microdeletion (Burnside–Butler) Syndrome” . Poster/Abstract presentation at the ACMG Annual meeting in Salt Lake City, Utah. March 2023. Published in Genetics in Medicine https://doi.org/10.1016/j.gimo.2023.100329
  • 2022 Zohra Shad, David Sharpe, Nejmun Hussain, MaryBeth Henry, Dawn Webb, Kristi McNamara. “Incidental Finding of Autosomal Recessive Juvenile Parkinson Disease-2 in Chromosome 17q12 microduplication female infant”. A digital poster presentation at ACMG Annual Clinical Genetics Meeting, March 22nd -26th,2022 in Nashville, TN
    Published in Genetics in Medicine Mar1 24(3S):S153;. https://doi.org/10.1016/j.gim.2022.01.276
  • 2021 Asuman Zynep Tumer et al; Zohra Shad et al; “DLG4-related synaptopathy”. Genetics in Medicine ;published in May 2021. DOI: 10.1038/s41436-020-01075-9
  • 2020 Francesca Mattioli et al; Zohra Shad et al. De Novo Frameshift Variants in the Neuronal Splicing Factor NOVA2 Result in a Common C-Terminal Extension and Cause a Severe Form of Neurodevelopmental Disorder. Published 2020Apr 2 in Am J Hum Genet. doi: 10.1016/j.ajhg.2020.02.013
  • 2020 Zohra Shad, Alicia Hernadez, Mary Kukolich , Elena Repnikova. “Expanding the phenotype associated with BGN: report of a novel, Leu276Arg, variant in patient with severe early-onset aortic aneurysm”. A Digital poster presentation at the ACMG Annual Clinical Genetics Meeting, March 2020.
  • 2019 Alice Zalan, Katie Cobian, Zohra Shad. “Precocious Puberty and Familial Platelet Disorder with Predisposition to AML in Patient with Mosaic Monosomy 21 and Ring Chromosome 21”.A poster presentation at the ACMG Annual Clinical Genetics Meeting, April 2nd – 06, 2019 in Seattle, WA
  • 2016 Zohra Shad, Anne McRae. “Expanding the Phenotype of Treacher Collins Syndrome?” Published on October 12, 2016 in Journal of Pediatrics and Neonatal Biology. http://www.opastonline.com/current-issue-jpnb/
  • 2016 Edward J. Bellfield, Jacqueline Chan, Sarah Durrin, Valerie Lindgren, Zohra Shad, and Claudia Boucher-Berry. “Anterior Pituitary Aplasia in an Infant with Ring Chromosome 18p Deletion,”Published in Endocrinology, vol. 2016, Article ID 2853178, 5 pages, 2016. doi:10.1155/2016/2853178.

Education

- Dow University of Health Sciences, Karachi

Licensures and Certifications

  • 2014 Fellow American College of Medical Genetics and Genomics
  • 2013 Diplomat American Board of Medical Genetics
  • 2004 Medical Council of Canada EE
  • State of Texas Medical Board License
  • State of Illinois Medical License
  • State Medical Board of Ohio License

Professional Memberships

  • 2011- Present American Society of Human Genetics
  • 2010- Present American College of Medical Genetics
  • 2014 Genetic Task Force of Illinois
  • 2013 American Medical Association
  • 2007 American Academy of Family Practice

Research Currently in Progress

  • ACMG Annual Meeting in March 2025. Abstract submitted for " Incomplete Penetrance Associated with a familial loss of function NAA15 gene variant. Waiting for approval.
  • ACMG Annual Meeting in March 2025. Abstract submitted for " Unique association of KBG syndrome and MYCBP@-related neurodevelopmental disorder in an Adult male presenting with connective tissue disorder and autism. Waiting for approval.