• 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. 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

    Academic Article

    Year Title Altmetric
    2022 An in vivo model of glioblastoma radiation resistance identifies long noncoding RNAs and targetable kinasesJCI Insight.  7. 2022
    2022 Therapy-related Myeloid Neoplasms in Children: A Single-institute StudyJournal of Pediatric Hematology/Oncology.  44:E109-E113. 2022
    2021 Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)Genetics in Medicine.  23:1818-1829. 2021
    2020 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 SeriesHematology/Oncology and Stem Cell Therapy.  13:143-146. 2020
    2020 Evidence-based review of genomic aberrations in B-lymphoblastic leukemia/lymphoma: Report from the cancer genomics consortium working group for lymphoblastic leukemiaCancer Genetics.  243:52-72. 2020
    2020 Fragile Bones Secondary to SMURF1 Gene DuplicationCalcified Tissue International.  106:567-573. 2020
    2020 Recurrent microdeletions at chromosome 2p11.2 are associated with thymic hypoplasia and features resembling DiGeorge syndromeJournal of Allergy and Clinical Immunology.  145:358-367.e2. 2020
    2019 Masked hypodiploidy: Hypodiploid acute lymphoblastic leukemia (ALL) mimicking hyperdiploid ALL in children: A report from the Children's Oncology GroupCancer Genetics.  238:62-68. 2019
    2019 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)Genetics in Medicine.  21:1903-1915. 2019
    2019 Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion)Molecular Genetics and Genomic Medicine.  7. 2019
    2019 Central Nervous System Double Relapse of Acute Promyelocytic Leukemia and Acute Myelomonocytic Leukemia.Case Reports in Hematology.  2019:4907352. 2019
    2019 Relapse after Prolonged Remission in Philadelphia-Like Acute Lymphoblastic Leukemia.Case Reports in Hematology.  2019:3536517. 2019
    2018 Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: A case reportMolecular Cytogenetics.  11. 2018
    2018 A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13CAmerican Journal of Medical Genetics Part A.  176:2791-2797. 2018
    2018 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 OptionsInternational Journal of Surgical Pathology.  26:440-447. 2018
    2018 A case report of chromosome 17q22-qter trisomy with distinct clinical presentation and review of the literature.Clinical Case Reports.  6:612-616. 2018
    2018 Therapy-associated myelodysplastic syndrome with monosomy 7 arising in a Muir-Torre Syndrome patient carrying SETBP1 mutation.Molecular and Clinical Oncology.  8:306-309. 2018
    2017 Diagnostic and Prognostic Utility of Fluorescence In situ Hybridization (FISH) Analysis in Acute Myeloid LeukemiaCurrent Hematologic Malignancy Reports.  12:568-573. 2017
    2017 An adolescent with large cell calcifying sertoli cell tumor of the testis and undiagnosed Carney Complex: A case reportDiagnostic Cytopathology.  45:634-639. 2017
    2017 Concomitant imatinib and ibrutinib in a patient with chronic myelogenous leukemia and chronic lymphocytic leukemia.Clinical Case Reports.  5:899-901. 2017
    2017 Clinical relevance of small copy-number variants in chromosomal microarray clinical testingGenetics in Medicine.  19:377-385. 2017
    2017 Enhanced targeting of CML stem and progenitor cells by inhibition of porcupine acyltransferase in combination with TKIBlood.  129:1008-1020. 2017
    2016 Section E6.1-6.4 of the ACMG technical standards and guidelines: Chromosome studies of neoplastic blood and bone marrow-acquired chromosomal abnormalitiesGenetics in Medicine.  18:635-642. 2016
    2016 Section E6.5-6.8 of the ACMG technical standards and guidelines: Chromosome studies of lymph node and solid tumor-acquired chromosomal abnormalitiesGenetics in Medicine.  18:643-648. 2016
    2016 Cleft palate in a patient with the nested 22q11.2 LCR C to D deletionAmerican Journal of Medical Genetics Part A.  170:260-262. 2016
    2016 Family history of hematologic malignancies and risk of multiple myeloma: differences by race and clinical featuresCancer Causes and Control.  27:81-91. 2016
    2015 Predictor(s) of abnormal array comparative genomic hybridization results in patients with cleft lip and/or palate 2015
    2015 Partial trisomy 21: A fifty-year follow-up visitAmerican Journal of Medical Genetics Part A.  167:1610-1613. 2015
    2015 Sex-discordant monochorionic twins with blood and tissue chimerismAmerican Journal of Medical Genetics Part A.  167:872-877. 2015
    2014 Identification of Large NF1 duplications reciprocal to NAHR-Mediated Type-1 NF1 deletionsHuman Mutation.  35:1469-1475. 2014
    2014 Incidental detection of cancer predisposition gene copy number variations by array comparative genomic hybridizationJournal of Pediatrics.  165:1057-1059.e4. 2014
    2014 Array comparative genomic hybridisation testing in CHDCardiology in the Young.  25:1155-1172. 2014
    2014 Copy number variations and human genetic diseaseCurrent Opinion in Pediatrics.  26:646-652. 2014
    2014 Neuregulin-1 overexpression and Trp53 haploinsufficiency cooperatively promote de novo malignant peripheral nerve sheath tumor pathogenesisActa Neuropathologica.  127:573-591. 2014
    2014 Palindrome-Mediated and Replication-Dependent Pathogenic Structural Rearrangements within the NF1 GeneHuman Mutation.  35:891-898. 2014
    2014 The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: A proposed categorization systemGenetics in Medicine.  16:92-100. 2014
    2013 Transgenic mice overexpressing neuregulin-1 model neurofibroma-malignant peripheral nerve sheath tumor progression and implicate specific chromosomal copy number variations in tumorigenesisAmerican Journal of Pathology.  182:646-667. 2013
    2012 Endoscopic ultrasound and endobronchial ultrasound-guided fine-needle aspiration of deep-seated lymphadenopathy: Analysis of 1338 casesCytoJournal.  9. 2012
    2012 In vivo regulation of the heme oxygenase-1 gene in humanized transgenic miceKidney International.  82:278-291. 2012
    2011 Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disordersAmerican Journal of Medical Genetics Part A.  155:2386-2396. 2011
    2011 Microdeletion/microduplication of proximal 15q11.2 between BP1 and BP2: A susceptibility region for neurological dysfunction including developmental and language delayHuman Genetics.  130:517-528. 2011
    2011 Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopiaPediatric Neurology.  45:274-278. 2011
    2011 Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCRAmerican Journal of Medical Genetics Part A.  155:1352-1359. 2011
    2011 Mosaic type-1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type-1 (NF1)Human Mutation.  32:213-219. 2011
    2011 A case of acute promyelocytic leukemia without RARα rearrangement and apparently normal cytogeneticsClinical Lymphoma, Myeloma and Leukemia.  11:521-524. 2011
    2010 Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reactionGenetic Testing and Molecular Biomarkers.  14:505-510. 2010
    2010 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 leukemiaBlood.  115:5312-5321. 2010
    2010 Use of array comparative genome hybridization in orofacial clefting.Journal of Craniofacial Surgery.  21:1591-1594. 2010
    2009 Rearrangement of CRLF2 in B-progenitor-and Down syndrome-associated acute lymphoblastic leukemiaNature Genetics.  41:1243-1246. 2009
    2009 A new syndrome with Stargardt macular degeneration, abnormalities of the corpus callosum, mental retardation, and dysmorphic features: A case report of two siblingsClinical Dysmorphology.  18:178-180. 2009
    2009 Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplicationAmerican Journal of Medical Genetics Part A.  149:1516-1522. 2009
    2008 Distal 22q11.2 microduplication encompassing the BCR geneAmerican Journal of Medical Genetics Part A.  146:3075-3081. 2008
    2008 Molecular characterization of a patient with an interstitial 1q deletion [del(1)(q24.1q25.3)] and distinctive skeletal abnormalitiesAmerican Journal of Medical Genetics Part A.  146:2937-2943. 2008
    2008 Advances in genetic testing and applications in newborn medicine 2008
    2008 A prenatally ascertained X;Y translocation characterized using conventional and molecular cytogeneticsAmerican Journal of Medical Genetics Part A.  146:1221-1224. 2008
    2007 A previously unrecognized microdeletion syndrome on chromosome 22 Band q11.2 encompassing the BCR GeneAmerican Journal of Medical Genetics Part A.  143:2178-2184. 2007
    2007 Overlapping phenotype of Wolf-Hirschhorn and Beckwith-Wiedemann syndromes in a girl with der(4)t(4;11)(pter;pter)American Journal of Medical Genetics Part A.  143:1760-1766. 2007
    2007 Overview of genetic diagnosis in cancer.Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.].  Chapter 10. 2007
    2006 Complete trisomy 17p syndrome in a girl with der(14)t(14;17)(p11.2;p11.2)American Journal of Medical Genetics Part A.  140:1647-1654. 2006
    2006 Normal and transforming functions of RUNX1: A perspectiveJournal of Cellular Physiology.  207:582-593. 2006
    2005 The distal zinc finger domain of AML1/MDS1/EVI1 is an oligomerization domain involved in induction of hematopoietic differentiation defects in primary cells in vitroCancer Research.  65:7603-7611. 2005
    2005 EVI1 abrogates interferon-α response by selectively blocking PML inductionJournal of Biological Chemistry.  280:428-436. 2005
    2004 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 2004
    2002 A new translocation that rearranges the AML1 gene in a patient with T-cell acute lymphoblastic leukemiaCancer Genetics.  135:96-100. 2002
    2002 The leukemia-associated transcription repressor AML1/MDS1/EVI1 requires CtBP to induce abnormal growth and differentiation of murine hematopoietic cellsOncogene.  21:3232-3240. 2002
    2002 The leukemia-associated transcription repressor aml1/mds1/evi1 requires ctbp to induce abnormal growth and differentiation of murine hematopoietic cellsOncogene.  21:3232-3240. 2002
    2002 AML1 gene over-expression in childhood acute lymphoblastic leukemiaLeukemia.  16:658-668. 2002
    2002 AML1 gene over-expression in childhood acute lymphoblastic leukemia.Leukemia.  16:658-668. 2002
    2002 AML1 gene over-expression in childhood acute lymphoblastic leukemiaLeukemia.  16:658-668. 2002
    2000 Childhood acute lymphoblastic leukemia in egyptBlood.  96. 2000


    Year Title Altmetric
    2018 Chromosomal basis of inheritance.  237-265. 2018
    2017 Chromosomes and Chromosomal Abnormalities.  268-276. 2017
    2017 Overview of genetic diagnosis in cancer.  10.1.1-10.1.9. 2017
    2014 Quality assurance and quality control in clinical cytogenetics.  8.2.1-8.2.10. 2014
    2013 Chromosomal Basis of Inheritance.  1-26. 2013

    Education And Training

  • University of Alexandria Clinical Pathology Department, Faculty of Medicine, Residency
  • University of Alabama at Birmingham, Birmingham Department of Genetics, School of Medicine, Postdoctoral Fellowship
  • Doctor of Philosophy in Physiology, Pathology, and Related Sciences, Alexandria University 2003
  • Doctor of Medicine in Physiology, Pathology, and Related Sciences, Alexandria University 1990
  • Full Name

  • Fady Mikhail