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Faculty Detail     Name FADY M. MIKHAIL   Campus Address KAUL 314C Zip 0024 Phone 205-934-9588 E-mail fmikhail@uab.edu Other websites https://www.uab.edu/medicine/genetics/clinical-laboratories/cytogenetics-laboratory

Faculty Appointment(s) Appointment Type Department Division Rank Primary  Genetics   Clinical Genetics Associate Professor

Biographical Sketch  M.D., Faculty of Medicine, University of Alexandria, Egypt, 1990 Internship clinical rotation, University of Alexandria Hospitals, Egypt, 1991-1992 Resident, Clinical Pathology Department, University of Alexandria, Egypt, 1992-1996 Postdoctoral fellow, Pathology Department, University of Illinois at Chicago, Chicago, IL, 2000-2002 Ph.D., Faculty of Medicine (Clinical Pathology), University of Alexandria, Egypt, 2003 Fellow in Clinical Cytogenetics, Department of Genetics, University of Alabama at Birmingham, AL, 2004-2006 American Board of Medical Genetics (ABMG) certification in Clinical Cytogenetics, 2007

Society Memberships Organization Name Position Held Org Link American College of Medical Genetics (ACMG)  Fellow  http://www.acmg.net  American Society of Hematology (ASH)  Member  http://www.hematology.org  American Society of Human Genetics (ASHG)  Member  http://www.ashg.org

Research/Clinical Interest Title Clinical Cytogenetics including Cancer Cytogenetics Description Dr. Mikhail is the Co-Director of the Clinical Cytogenetics Lab in the Department of Genetics. The Cytogenetics Lab provides diagnostic services by performing chromosome analysis, fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (array CGH) on cells prepared from a wide variety of tissues including amniotic fluid, chorionic villi, products of conception, peripheral blood leukocytes, bone marrow, lymph node, and skin/muscle biopsy. His research interests include identification of novel constitutional genomic disorders caused by microdeletions and microduplications using array CGH methodologies with special interest in neurodevelopmental disorders, and characterization of the clinical phenotype, molecular breakpoints, as wells as the mechanism of rearrangement. This includes further characterization of the distal 22q11.2 microdeletion/microduplication syndrome that we have identified on chromosome 22 distal to the DiGeorge syndrome typically deleted region. Also, identification of novel cytogenetic rearrangements in patients with various hematological malignancies that might have a causal role in the oncogenic process using molecular cytogenetic techniques including FISH and array CGH, and identification of the underlying genes.

Selected Publications  Publication PUBMEDID Kazmi SJ, Byer SJ, Eckert JM, Turk AN, Huijbregts RP, Brossier NM, Grizzle WE, Mikhail FM, Roth KA, Carroll SL. Transgenic Mice Overexpressing Neuregulin-1 Model Neurofibroma-Malignant Peripheral Nerve Sheath Tumor Progression and Implicate Specific Chromosomal Copy Number Variations in Tumorigenesis. Am J Pathol 2013 (in press).  23321323  Kim J, Zarjou A, Traylor AM, Bolisetty S, Jaimes EA, Hull TD, George JF, Mikhail FM, Agarwal A. In vivo regulation of the heme oxygenase-1 gene in humanized transgenic mice. Kidney Int 2012;82(3):278-91.  22495295  Mikhail FM, Lose EJ, Robin NH, Descartes MD, Rutledge KD, Rutledge SL, Korf BR, Carroll AJ. Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders. Am J Med Genet A 2011;155A(10):2386-96.  22031302  Descartes M, Mikhail FM, Franklin JC, McGrath TM, Bebin M. Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopia. Pediatr Neurol 2011;45(4):274-8.  21907895  Spencer E, Davis J, Mikhail FM, Fu C, Vijzelaar R, Zackai E, Feret H, Meyn MS, Shugar A, Bellus G, Kocsis K, Kivirikko S, Pöyhönen M, Messiaen L. Identification of SPRED1 Deletions using RT-PCR, Multiplex Ligation-dependent Probe Amplification and Quantitative PCR. Am J Med Genet A 2011;155(6):1352-9.   21548021  Burnside RD, Pasion R, Mikhail FM, Carroll AJ, Robin NH, Youngs EL, Gadi IK, Keitges E, Jaswaney VL, Papenhausen PR, Potluri VR, Risheg H, Rush B, Smith JL, Schwartz S, Tepperberg JH, Butler MG. Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: A susceptibility region for neurological dysfunction including developmental and language delay. Hum Genet 2011;130(4):517-28.  21359847  Messiaen L, Vogt J, Bengesser K, Fu C, Mikhail F, Serra E, Garcia-Linares C, Cooper DN, Lazaro C, Kehrer-Sawatzki H. Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1). Hum Mutat 2011;32(2):213-9.  21280148  Gallego CJ, Grant J, Mikhail FM, Barger C, Robin NH. Use of array comparative genome hybridization in orofacial clefting. J Craniofac Surg 2010;21(5):1591-4.  20856054  Zvereff V, Yao S, Ramsey J, Mikhail FM, Vijzelaar R, Messiaen L. Identification of PKHD1 Multi-exon Deletions Using Multiplex Ligation-Dependent Probe Amplification and Quantitative Polymerase Chain Reaction. Genet Test Mol Biomarkers 2010;14(4):505-10.  20575693  Harvey RC, Mullighan CG, Chen IM, Wharton W, Mikhail FM, Carroll AJ, Kang H, Liu W, Dobbin KK, Smith MA, Carroll WL, Devidas M, Bowman WP, Camitta B, Reaman GH, Hunger SP, Downing JR, Willman CL. Rearrangement of CRLF2 is associated with mutation of JAK kinases, alteration of IKZF1, Hispanic/Latino Ethnicity and a Poor Outcome in Pediatric B-Progenitor Acute Lymphoblastic Leukemia. Blood 2010;115(26):5312-21.  20139093  First Prev   1 2 3 of  3  Next Last

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