URMC / Labs / Iqbal Lab / Publications Publications Broeckel UIqbal MALevy BSahajpal NNagy PLScharer GRodriguez VBossler AStence ASkinner CSkinner SAKolhe RStevenson R Detection of Constitutional Structural Variants by Optical Genome Mapping: A Multisite Study of Postnatal Samples.; The Journal of molecular diagnostics : JMD; Vol 26(3), pp. 213-226. 2024 Jan 09. Iqbal MABroeckel ULevy BSkinner SSahajpal NSRodriguez VStence AAwayda KScharer GSkinner CStevenson RBossler ANagy PLKolhe R Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases.; The Journal of molecular diagnostics : JMD; Vol 25(3), pp. 175-188. 2023 Mar. Ahmad ANkosi DIqbal MA PARK2 Microdeletion or Duplications Have Been Implicated in Different Neurological Disorders Including Early Onset Parkinson Disease.; Genes; Vol 14(3). 2023 Feb 27. Cliburn JAUy JCSwift SLiesveld JLIqbal MAJajosky ANBecker MW Diagnosing familial platelet disorder with predisposition to myeloid malignancy: Lessons learned from a germline whole-gene deletion of RUNX1.; International journal of laboratory hematology. 2023 Jan 12. Zhang BLiu MFong CTIqbal MA MEIS2 (15q14) gene deletions in siblings with mild developmental phenotypes and bifid uvula: documentation of mosaicism in an unaffected parent.; Molecular cytogenetics; Vol 14(1), pp. 58. 2021 Dec 20. Miller CGertsen BGSchroeder ALFong CTIqbal MAZhang B Allelic and dosage effects of NHS in X-linked cataract and Nance-Horan syndrome: a family study and literature review.; Molecular cytogenetics; Vol 14(1), pp. 48. 2021 Oct 07. Tsuboyama MIqbal MA CHL1 deletion is associated with cognitive and language disabilities - Case report and review of literature.; Molecular genetics & genomic medicine; Vol 9(7), pp. e1725. 2021 May 31. Onur PShaver MIqbal MA Interstitial 20p13 microdeletion including PRNP and adjacent genes in a fetus with congenital abnormalities-First case report.; Clinical case reports; Vol 9(5), pp. e04082. 2021 May 04. Johnson MDIqbal MAHussain APilcher W Diffuse astrocytoma with 3q26.2q29 duplication, 20p12.1p11.1 deletion and no recurrence over 25 years; Interdisciplinary Neurosurgery; Vol 100684. 2020 Jan 01. Numbere NWeber DRPorter GIqbal MA A 235 Kb deletion at 17q21.33 encompassing the COL1A1, and two additional secondary copy number variants in an infant with type I osteogenesis imperfecta: A rare case report.; Molecular genetics & genomic medicine; Vol 8(6), pp. e1241. 2020 Apr 13. Numbere NWeber DRPorter GJIqbal MA Encompassing the COL1A1, and Two Additional Secondary Copy Number Variants in an Infant with Type I Osteogenesis Imperfecta: A Rare Case Report.; . 2020 Jan 01. Steiner LAGetman MSchiralli Lester GMIqbal MAKatzman PSzafranski PStankiewicz PBhattacharya SMariani TPryhuber GLin XYoung JLDean DAScheible K Disruption of normal patterns of FOXF1 expression in a lethal disorder of lung development.; Journal of medical genetics. 2019 Oct 29. Reyes Barron CEvans AGMiyamoto HZhang BIqbal MA Novel 1.3 Mb germline duplication in chromosome 8q21.11 by microarray comparative genomic hybridization plus single nucleotide polymorphism analysis in an adult patient with pancytopenia and urinary bladder complications.; Clinical case reports; Vol 6(10). 2018 Oct. Xu XBryke CSukhanova MHuxley EDash DPDixon-Mciver AFang MGriepp PTHodge JCIqbal AJeffries SKanagal-Shamanna RQuintero-Rivera FShetty SSlovak MLYenamandra ALennon PARaca G Assessing copy number abnormalities and copy-neutral loss-of-heterozygosity across the genome as best practice in diagnostic evaluation of acute myeloid leukemia: An evidence-based review from the cancer genomics consortium (CGC) myeloid neoplasms working group.; Cancer genetics; Vol 228-229. 2018 Jan. Kanagal-Shamanna RHodge JCTucker TShetty SYenamandra ADixon-McIver ABryke CHuxley ELennon PARaca GXu XJeffries SQuintero-Rivera FGreipp PTSlovak MLIqbal MAFang M Assessing copy number aberrations and copy neutral loss of heterozygosity across the genome as best practice: An evidence based review of clinical utility from the cancer genomics consortium (CGC) working group for myelodysplastic syndrome, myelodysplastic/myeloproliferative and myeloproliferative neoplasms.; Cancer genetics; Vol 228-229. 2018 Jan. Evans AGAhmad ABurack WRIqbal MA Combined comparative genomic hybridization and single-nucleotide polymorphism array detects cryptic chromosomal lesions in both myelodysplastic syndromes and cytopenias of undetermined significance.; Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc. 2016 Jul 8. Ahmad ABattacharya SSridhar AIqbal MAMariani TJ Recurrent Copy Number Variation Associated with Bronchopulmonary Dysplasia; Pediatr Res; Vol 79((6)), pp. 940-5. 2016 Jan 01. Szafranski PGambin TDharmadhikari AVAkdemir KCJhangiani SNSchuette JGodiwala NYatsenko SASebastian JMadan-Khetarpal SSurti UAbellar RGBateman DAWilson ALMarkham MHSlamon JSantos-Simarro FPalomares MNevado JLapunzina PChung BHWong WLChu YWMok GTKerem EReiter JAmbalavanan NAnderson SAKelly DRShieh JRosenthal TCScheible KSteiner LIqbal MAMcKinnon MLHamilton SJSchlade-Bartusiak KEnglish DHendson GRoeder ERDeNapoli TSLittlejohn ROWolff DJWagner CLYeung AFrancis DFiorino EKEdelman MFox JHayes DAJanssens SDe Baere EMenten BLoccufier AVanwalleghem LMoerman PSznajer YLay ASKussmann JLChawla JPayton DJPhillips GEBrosens ETibboel Dde Klein AMaystadt IFisher RSebire NMale AChopra MPinner JMalcolm GPeters GArbuckle SLees MMead ZQuarrell OSayers ROwens MShaw-Smith CLioy JMcKay Ede Leeuw NFeenstra ISpruijt LElmslie FThiruchelvam TBacino CALangston CLupski JRSen PPopek EStankiewicz P Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.; Human genetics; Vol 135(5). 2016 May. Petersen AKAhmad AShafiq MBrown-Kipphut BFong CTAnwar Iqbal M Deletion 1q43 encompassing only CHRM3 in a patient with autistic disorder.; European journal of medical genetics; Vol 56(2). 2013 Feb. Coppage MIqbal AAhmad ABecker MW Leukemia specific loss of heterozygosity of MHC in a CLL patient: disease state impacts timing of confirmatory typing.; Human immunology; Vol 74(1). 2013 Jan. Velinov MAhmad ABrown-Kipphut BShafiq MBlau JCooma RRoth PIqbal MA A 0.7 Mb de novo duplication at 7q21.3 including the genes DLX5 and DLX6 in a patient with split-hand/split-foot malformation.; American journal of medical genetics. Part A; Vol 158A(12). 2012 Dec. Vargas HBeldia GKorosh WSudhalter VIqbal ASanchez-Lacay JAVelinov M A 4.5 Mb terminal deletion of chromosome 12p helps further define a psychosis-associated locus.; European journal of medical genetics; Vol 55(10). 2012 Oct. Cherry AMSlovak MLCampbell LJChun KEclache VHaase DHaferlach CHildebrandt BIqbal AMJhanwar SCOhyashiki KSole FVandenberghe PVanDyke DLZhang YDewald GW Will a peripheral blood (PB) sample yield the same diagnostic and prognostic cytogenetic data as the concomitant bone marrow (BM) in myelodysplasia?; Leukemia research; Vol 36(7). 2012 Jul. Johnson MDO'Connell MIqbal MAWilliams JP Radiation effects on human leptomeningeal cell response to cerebrospinal fluid and PDGF-BB.; International journal of radiation biology; Vol 88(7). 2012 Jul. Ahmad AIqbal MA Significance of genome-wide analysis of copy number alterations and UPD in myelodysplastic syndromes using combined CGH - SNP arrays.; Current medicinal chemistry; Vol 19(22). 2012. Pryor JGBrown-Kipphut BAIqbal AScott GA Microarray comparative genomic hybridization detection of copy number changes in desmoplastic melanoma and malignant peripheral nerve sheath tumor.; The American Journal of dermatopathology; Vol 33(8). 2011 Dec. Kaya NAl-Muhsen SAl-Saud BAl-Bakheet AColak DAl-Ghonaium AAl-Dhekri HAl-Mousa HArnaout RAl-Owain MIqbal M ICF syndrome in Saudi Arabia: immunological, cytogenetic and molecular analysis.; Journal of clinical immunology; Vol 31(2). 2011 Apr. Aljurf MAl Qurashi FAl Mohareb FSahovic EAl Sharif FAl Zahrani HAl Shanqeeti AOwaidah TIqbal AZaidi SZNurgat ZASanz MChaudhri N High efficacy and low toxicity of APL induction with concurrent idarubicin/ATRA followed by a novel and simplified outpatient post-remission therapy using single doses of idarubicin and intermittent ATRA.; Medical oncology (Northwood, London, England); Vol 27(3). 2010 Sep. Chun KHagemeijer AIqbal ASlovak ML Implementation of standardized international karyotype scoring practices is needed to provide uniform and systematic evaluation for patients with myelodysplastic syndrome using IPSS criteria: An International Working Group on MDS Cytogenetics Study.; Leukemia research; Vol 34(2). 2010 Feb. Al-Owain MKaya NAl-Zaidan HBin Hussain IAl-Manea HAl-Hindi HKennedy SIqbal MAAl-Mojalli HAl-Bakheet APuel ACasanova JLAl-Muhsen S Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy.; Clinical & developmental immunology; Vol 2010. 2010. Iqbal MAAl-Owain M Interstitial del(20)(q11.2q12) - clinical and molecular cytogenetic characterization.; American journal of medical genetics. Part A; Vol 143A(16). 2007 Aug 15. Szych CMLiesveld JLIqbal MALi LSiebert SAsmus CO'Malley JLee AWang N Isodicentric Philadelphia chromosomes in imatinib mesylate (Gleevec)-resistant patients.; Cancer genetics and cytogenetics; Vol 174(2). 2007 Apr 15. Owaidah TMAl Beihany AIqbal MAElkum NRoberts GT Cytogenetics, molecular and ultrastructural characteristics of biphenotypic acute leukemia identified by the EGIL scoring system.; Leukemia; Vol 20(4). 2006 Apr. Hellani AAl-Hassan SIqbal MACoskun S Y chromosome microdeletions in infertile men with idiopathic oligo- or azoospermia.; Journal of experimental & clinical assisted reproduction; Vol 3. 2006. Iqbal MAAl-Omar HMOwaidah TAl-Humaidan HBhuiyan ZASahovic E Del(6)(p23) in two cases of de novo AML: A new recurrent primary chromosome abnormality.; Eur J Haematol; Vol 77, pp. 245-250. 2006 Jan 01. Iqbal MARamadan SAli FAKurdi W Complex de novo cryptic subtelomeric rearrangements in a fetus with multiple ultrasonographic abnormalities and a normal karyotype at amniocentesis.; Prenatal diagnosis; Vol 25(12). 2005 Dec. Al-Mutair AIqbal MASakati NAshwal A Cytogenetics and etiology of ambiguous genitalia in 120 pediatric patients.; Annals of Saudi medicine; Vol 24(5). 2004 Sep. Al-Qurashi FHOwaidah TIqbal MAAljurf M Trisomy 4 as the sole karyotypic abnormality in a case of acute biphenotypic leukemia with T-lineage markers in minimally differentiated acute myelocytic leukemia.; Cancer genetics and cytogenetics; Vol 150(1). 2004 Apr 1. Boumah CEMeyer BAljurf MBertilsson PAPyle RHAl-Hussein KAIqbal AGyger M Monitoring of donor/recipient T-cell engraftment kinetics in myeloablative allogeneic stem cell transplantation using short tandem repeat amplification from cell lysates.; Leukemia & lymphoma; Vol 43(6). 2002 Jun. Nounou RAl-Zahrani H HAjarim DSMartin JIqbal ANaufal RStuart RRoberts GGyger M Extramedullary myeloid cell tumours localised to the mediastinum: a rare clinicopathological entity with unique karyotypic features.; Journal of clinical pathology; Vol 55(3). 2002 Mar. Raziuddin SIqbal MAKhalil SSiraj AKButt AIAl-Sedairy S Tumor necrosis factor-alpha and interleukin-10 secretion in precursor B cell acute lymphoblastic leukemia: functional significance of interleukin-12; Lab Hematol; Vol 8, pp. 59-59. 2002 Jan 01. Iqbal MASakati NNester MOzand P Cytogenetic diagnosis of fragile X syndrome: study of 305 suspected cases in Saudi Arabia.; Annals of Saudi medicine; Vol 20(3-4). 2000 May. Iqbal MAAkhtar MUlmer CAl-Dayel FPaterson MC FISH analysis in chromophobe renal-cell carcinoma.; Diagnostic cytopathology; Vol 22(1). 2000 Jan. Iqbal MAUlmer CSakati N Use of FISH technique in the diagnosis of chromosomal syndromes.; Eastern Mediterranean health journal = La revue de santé de la Méditerranée orientale = al-Majallah al-ṣiḥḥīyah li-sharq al-mutawassiṭ; Vol 5(6). 1999 Nov. Iqbal MAAkhtar MAl Dayel FUlmer CPaterson MC Use of FISH analysis for diagnosis of renal cell carcinoma subtypes.; Annals of Saudi medicine; Vol 19(6). 1999 Nov. Akhtar MIqbal MAMourad WAli MA Fine-needle aspiration biopsy diagnosis of small round cell tumors of childhood: A comprehensive approach.; Diagnostic cytopathology; Vol 21(2). 1999 Aug. Akhtar MIqbal MA Genetics of small round cell tumors of children.; Annals of Saudi medicine; Vol 18(4). 1998 Jul. Jackson GHTaylor PRIqbal AGalloway MJTurner GHaynes AHamilton PJRussell NProctor SJ The use of an all oral chemotherapy (idarubicin and etoposide) in the treatment of acute myeloid leukaemia in the elderly: a report of toxicity and efficacy.; Leukemia; Vol 11(8). 1997 Aug. Iqbal A FISHing genes and chromosomes from human cells.; Annals of Saudi medicine; Vol 17(4). 1997 Jul. Iqbal MAAhmed MZWu DSakati N A case of presumptive monosomy 21 re-diagnosed as unbalanced t(5p;21q) by FISH and review of literature.; American journal of medical genetics; Vol 70(2). 1997 May 16.