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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
     

Certifications
American Board of Medical Genetics (ABMG) certification in Clinical Cytogenetics, 2007    


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

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. Dr. Mikhail is the author of numerous articles and book chapters.

Selected Publications 
Publication PUBMEDID
Brosius SN, Turk AN, Byer SJ, Brossier NM, Kohli L, Whitmire A, Mikhail FM, Roth KA, Carroll SL. Neuregulin-1 overexpression and Trp53 haploinsufficiency cooperatively promote de novo malignant peripheral nerve sheath tumor pathogenesis. Acta Neuropathol 2013 (in press)   24232507 
Mikhail FM, Burnside RD, Rush B, Ibrahim J, Godshalk R, Rutledge SL, Robin NH, Descartes MD, Carroll AJ. The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system. Genet Med 2014;16(1):92-100.  23765049  
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;182(3):646-67.  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 
Mullighan CG, Collins-Underwood JR, Phillips LA, Loudin MG, Liu W, Zhang J, Ma J, Coustan-Smith E, Harvey RC, Willman CL, Mikhail FM, Meyer J, Carroll AJ, Williams RT, Cheng J, Heerema NA, Basso G, Pession A, Pui CH, Raimondi SC, Hunger SP, Downing JR, Carroll WL, Rabin KR. Rearrangement of CRLF2 in B-progenitor- and Down syndrome-associated acute lymphoblastic leukemia. Nat Genet 2009;41(11):1243-6.  19838194 
Burnside RD, Lose EJ, Domínguez MG, Sánchez-Corona J, Rivera H, Carroll AJ, Mikhail FM. Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication. Am J Med Genet A 2009;149A(7):1516-22.  19533774 
Descartes M, Franklin J, de Ståhl TD, Piotrowski A, Bruder CE, Dumanski JP, Carroll AJ, Mikhail FM. Distal 22q11.2 microduplication encompassing the BCR gene. Am J Med Genet A 2008;146A(23):3075-81.   19006218 
Descartes M, Hain JZ, Conklin M, Franklin J, Mikhail FM, Lachman RS, Nolet S, Messiaen LM. Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalities. Am J Med Genet A 2008;146A(22):2937-43.  18925675 
Mikhail FM, Descartes M, Piotrowski A, Andersson R, Diaz de Ståhl T, Komorowski J, Bruder CG, Dumanski JP, Carroll AJ. A previously unrecognized microdeletion syndrome on chromosome 22 band q11.2 encompassing the BCR gene. Am J Med Genet A 2007;143(18):2178-84.   17676630 
Mikhail FM, Sathienkijkanchai A, Robin NH, Prucka S, Sanford Biggerstaff J, Komorowski J, Andersson R, Bruder CG, Piotrowski A, Diaz de Ståhl T, Dumanski JP, Carroll AJ. Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann Syndromes in a girl with der(4)t(4;11)(pter;pter). Am J Med Genet A 2007;143(15):1760-6.  17603794 
Mikhail FM, McIlvried D, Holt RL, Messiaen L, Descartes MD, Carroll AJ. Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2). Am J Med Genet A 2006;140A(15):1647-54.  16835929 
Mikhail FM, Sinha KK, Saunthararajah Y, Nucifora G. Normal and transforming functions of RUNX1: A perspective. J Cell Physiol 2006;207(3):582-93.  16250015 
Senyuk V, Li D, Zakharov A, Mikhail FM, Nucifora G. The distal zinc finger domain of AML1/MDS1/EVI1 is an oligomerization domain involved in induction of hematopoietic differentiation defects in primary cells in vitro. Cancer Res 2005;65(17):7603-11.  16140925 
Buonamici S, Li D, Mikhail FM, Sassano A, Platanias LC, Colamonici O, Anastasi J, Nucifora G. EVI1 abrogates interferon-alpha response by selectively blocking PML induction. J Biol Chem 2005;280(1):428-436.  15519999 
Mikhail FM, Coignet L, Hatem N, Mourad ZI, Farawela HM, El Kaffash DM, Farahat N, Nucifora G. A novel gene, FGA7, is fused to RUNX1/AML1 in a t(4;21)(q28;q22) in a patient with T-cell acute lymphoblastic leukemia. Genes Chromosomes Cancer 2004;39(2):110-8.  14695990 
Senyuk V, Chakraborty S, Mikhail FM, Zhao R, Chi Y, Nucifora G. The leukemia-associated transcription repressor AML1/MDS1/EVI1 requires CtBP to induce abnormal growth and differentiation of murine hematopoietic cells. Oncogene 2002;21(20):3232-40.  12082639 
Mikhail FM, Serry KA, Hatem N, Mourad ZI, Farawela HM, El Kaffash DM, Coignet L, Nucifora G. A new translocation that rearranges the AML1 gene in a patient with T-cell acute lymphoblastic leukemia. Cancer Genet Cytogenet 2002;135(1):96-100.  12072207 
Mikhail FM, Serry KA, Hatem N, Mourad ZI, Farawela HM, El Kaffash DM, Coignet L, Nucifora G. AML1 gene over-expression in childhood acute lymphoblastic leukemia. Leukemia 2002;16(4):658-68.  11960347