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Faculty Detail    
Name FADY M. MIKHAIL
  
Campus Address KAUL 314A Zip 0024
Phone
E-mail  fmikhail@uab.edu
Other websites https://www.uab.edu/medicine/genetics/patient-care/clinical-labs/cytogenetics-laboratory
     

Education
Medical School  Faculty of Medicine, University of Alexandria, Egypt    1990  MD 
Graduate  Faculty of Medicine (Clinical Pathology), University of Alexandria, Egypt     2003  PhD 

Certifications
American Board of Medical Genetics and Genomics (ABMGG) certification in Clinical Cytogenetics  2007 
ABMGG re-certification in Clinical Cytogenetics  2017 


Faculty Appointment(s)
Appointment Type Department Division Rank
Primary  Clinical Genetics  Clinical Genetics Professor
Center  Comprehensive Cancer Center  Comprehensive Cancer Center Professor

Graduate Biomedical Sciences Affiliations
Genetics, Genomics and Bioinformatics 

Biographical Sketch 
* MD, 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 * PhD, 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 Society of Hematology (ASH)  Member  http://www.hematology.org 
American Society of Human Genetics (ASHG)  Member  http://www.ashg.org 
American College of Medical Genetics (ACMG)  Fellow  http://www.acmg.net 
 



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
Akkari YMN, Bruyere H, Hagelstrom RT, Kanagal-Shamanna R, Liu J, Luo M, Mikhail FM, Pitel BA, Raca G, Shago M, Shao L, Smith LR, Smolarek TA, Yenamandra A, Baughn LB. Evidence-based review of genomic aberrations in B-lymphoblastic leukemia/lymphoma: Report from the cancer genomics consortium working group for lymphoblastic leukemia. Cancer Genet 2020;243:52-72.   32302940  
Bernstock JD, Totten AH, Elkahloun AG, Johnson KR, Hurst AC, Goldman F, Groves AK, Mikhail FM, Atkinson TP. Recurrent microdeletions at chromosome 2p11.2 are associated with thymic hypoplasia and features resembling DiGeorge syndrome. J Allergy Clin Immunol 2020;145(1):358-367.   31600545 
Stanko LM, Reddy V, Mikhail FM, Papadantonakis N. Central Nervous System Double Relapse of Acute Promyelocytic Leukemia and Acute Myelomonocytic Leukemia. Case Rep Hematol 2019;2019:4907352.   31929922  
Shah G, Mikhail FM, Bachiasvili K, Vachhani P, Erba HP, Papadantonakis N. Outcomes of high-risk acute promyelocytic leukemia patients treated with arsenic trioxide (ATO)/all trans retinoic acid (ATRA) based induction and consolidation without maintenance phase: A case Series. Hematol Oncol Stem Cell Ther 2019:S1658-3876(19)30076-7.   31629725 
Carroll AJ, Shago M, Mikhail FM, Raimondi SC, Hirsch BA, Loh ML, Raetz EA, Borowitz MJ, Wood BL, Maloney KW, Mattano LA Jr, Larsen EC, Gastier-Foster J, Stonerock E, Ell D, Kahwash S, Devidas M, Harvey RC, Chen IL, Willman CL, Hunger SP, Winick NJ, Carroll WL, Rao KW, Heerema NA. Masked hypodiploidy: Hypodiploid acute lymphoblastic leukemia (ALL) mimicking hyperdiploid ALL in children: A report from the Children's Oncology Group. Cancer Genet 2019;238:62-68.  31425927 
Woodfin T, Stoops C, Philips JB 3rd, Lose E, Mikhail FM, Hurst A. Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion). Mol Genet Genomic Med 2019;7(8):e829.  31250568 
Mikhail FM, Biegel JA, Cooley LD, Dubuc AM, Hirsch B, Horner VL, Newman S, Shao L, Wolff DJ, Raca G. Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC). Genet Med 2019;21(9):1903-1915.   31138931 
Kerr ER, Stuhlmiller GM, Maha GC, Ladd MA, Mikhail FM, Koester RP, Hurst ACE. Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report. Mol Cytogenet 2018;11:60.  30598700 
Upadia J, Gonzales PR, Atkinson TP, Schroeder HW, Robin NH, Rudy NL, Mikhail FM. A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C. Am J Med Genet A 2018;176(12):2791-2797.  30216695 
Upadia J, Philips JB 3rd, Robin NH, Lose EJ, Mikhail FM. A case report of chromosome 17q22-qter trisomy with distinct clinical presentation and review of the literature. Clin Case Rep 2018;6(4):612-616.  29636925 
Ullman D, Baumgartner E, Wnukowski N, Koenig G, Mikhail FM, Pavlidakey P, Peker D. Therapy-associated myelodysplastic syndrome with monosomy 7 arising in a Muir-Torre Syndrome patient carrying SETBP1 mutation. Mol Clin Oncol 2018;8(2):306-309.  29435294 
Stevens TM, Qarmali M, Morlote D, Mikhail FM, Swensen J, Gatalica Z, Siegal GP, Conry RM. Malignant Ewing-Like Neoplasm With an EWSR1-KLF15 Fusion: At the Crossroads of a Myoepithelial Carcinoma and a Ewing-Like Sarcoma. A Case Report With Treatment Options. Int J Surg Pathol 2018;26(5):440-447.  29390927 
Gonzales PR, Mikhail FM. Diagnostic and Prognostic Utility of Fluorescence In situ Hybridization (FISH) Analysis in Acute Myeloid Leukemia. Curr Hematol Malig Rep 2017;12(6):568-573  29064023 
Korf BR, Mikhail FM. Overview of Genetic Diagnosis in Cancer. Curr Protoc Hum Genet 2017;93:10.1.1-10.1.9.  28384400  
Agarwal P, Zhang B, Ho Y, Cook A, Li L, Mikhail FM, Wang Y, McLaughlin ME, Bhatia R. Enhanced targeting of CML stem and progenitor cells by inhibition of porcupine acyltransferase in combination with TKI. Blood 2017;129(8):1008-1020.   28011678 
Hollenbeck DL, Williams CL, Drazba KT, Descartes M, Korf BR, Rutledge SL, Lose EJ, Robin NH, Carroll AJ, Mikhail FM. Clinical relevance of small copy number variants during chromosomal microarray clinical testing. Genet Med 2017;19(4):377-385.   27632688  
Mikhail FM, Heerema NA, Rao KW, Burnside RD, Cherry AM, Cooley LD. Section E6.1-6.4 of the ACMG technical standards and guidelines: chromosome studies of neoplastic blood and bone marrow-acquired chromosomal abnormalities. Genet Med 2016;18(6):635-42.  27124785 
Cooley LD, Morton CC, Sanger WG, Saxe DF, Mikhail FM. Section E6.5-6.8 of the ACMG technical standards and guidelines: chromosome studies of lymph node and solid tumor-acquired chromosomal abnormalities. Genet Med 2016;18(6):643-8.  27124786 
Williams CL, Nelson KR, Grant JH, Mikhail FM, Robin NH. Cleft palate in a patient with the nested 22q11.2 LCR C to D deletion. Am J Med Genet A 2016;170A(1):260-2.  26419407 
Rojnueangnit K, Mikhail FM, Cui X, Yu S, Robin NH. Predictor(s) of abnormal array comparative genomic hybridization results in patients with cleft lip and/or palate. Cleft Palate Craniofac J 2015;52(6):724-31.  25489768  
Hamm JA, Mikhail FM, Hollenbeck D, Farmer M, Robin NH. Incidental detection of cancer predisposition gene copy number variations by array comparative genomic hybridization. J Pediatr 2014;165(5):1057-9.e1-4.  25201531 
Mikhail FM. Copy number variations and human genetic disease. Curr Opin Pediatr 2014;26(6):646-52.  25198053  
Hsiao MC, Piotrowski A, Alexander J, Callens T, Fu C, Mikhail FM, Claes KB, Messiaen L. Palindrome-mediated and replication-dependent pathogenic structural rearrangements within the NF1 gene. Hum Mutat 2014;35(7):891-8.  24760680  
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 2014;127(4):573-91.  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 
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