URMC / Labs / Iqbal Lab / Publications

Publications

1. Broeckel U
2. Iqbal MA
3. Levy B
4. Sahajpal N
5. Nagy PL
6. Scharer G
7. Rodriguez V
8. Bossler A
9. Stence A
10. Skinner C
11. Skinner SA
12. Kolhe R
13. Stevenson 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.
1. Iqbal MA
2. Broeckel U
3. Levy B
4. Skinner S
5. Sahajpal NS
6. Rodriguez V
7. Stence A
8. Awayda K
9. Scharer G
10. Skinner C
11. Stevenson R
12. Bossler A
13. Nagy PL
14. Kolhe 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.
1. Ahmad A
2. Nkosi D
3. Iqbal MA
PARK2 Microdeletion or Duplications Have Been Implicated in Different Neurological Disorders Including Early Onset Parkinson Disease.; Genes; Vol 14(3). 2023 Feb 27.
1. Cliburn JA
2. Uy JC
3. Swift S
4. Liesveld JL
5. Iqbal MA
6. Jajosky AN
7. Becker 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.
1. Zhang B
2. Liu M
3. Fong CT
4. Iqbal 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.
1. Miller C
2. Gertsen BG
3. Schroeder AL
4. Fong CT
5. Iqbal MA
6. Zhang 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.
1. Tsuboyama M
2. Iqbal 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.
1. Onur P
2. Shaver M
3. Iqbal 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.
1. Johnson MD
2. Iqbal MA
3. Hussain A
4. Pilcher W
Diffuse astrocytoma with 3q26.2q29 duplication, 20p12.1p11.1 deletion and no recurrence over 25 years; Interdisciplinary Neurosurgery; Vol 100684. 2020 Jan 01.
1. Numbere N
2. Weber DR
3. Porter G
4. Iqbal 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.
1. Numbere N
2. Weber DR
3. Porter GJ
4. Iqbal 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.
1. Steiner LA
2. Getman M
3. Schiralli Lester GM
4. Iqbal MA
5. Katzman P
6. Szafranski P
7. Stankiewicz P
8. Bhattacharya S
9. Mariani T
10. Pryhuber G
11. Lin X
12. Young JL
13. Dean DA
14. Scheible K
Disruption of normal patterns of FOXF1 expression in a lethal disorder of lung development.; Journal of medical genetics. 2019 Oct 29.
1. Reyes Barron C
2. Evans AG
3. Miyamoto H
4. Zhang B
5. Iqbal 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.
1. Xu X
2. Bryke C
3. Sukhanova M
4. Huxley E
5. Dash DP
6. Dixon-Mciver A
7. Fang M
8. Griepp PT
9. Hodge JC
10. Iqbal A
11. Jeffries S
12. Kanagal-Shamanna R
13. Quintero-Rivera F
14. Shetty S
15. Slovak ML
16. Yenamandra A
17. Lennon PA
18. Raca 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.
1. Kanagal-Shamanna R
2. Hodge JC
3. Tucker T
4. Shetty S
5. Yenamandra A
6. Dixon-McIver A
7. Bryke C
8. Huxley E
9. Lennon PA
10. Raca G
11. Xu X
12. Jeffries S
13. Quintero-Rivera F
14. Greipp PT
15. Slovak ML
16. Iqbal MA
17. Fang 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.
1. Evans AG
2. Ahmad A
3. Burack WR
4. Iqbal 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.
1. Ahmad A
2. Battacharya S
3. Sridhar A
4. Iqbal MA
5. Mariani TJ
Recurrent Copy Number Variation Associated with Bronchopulmonary Dysplasia; Pediatr Res; Vol 79((6)), pp. 940-5. 2016 Jan 01.
1. Szafranski P
2. Gambin T
3. Dharmadhikari AV
4. Akdemir KC
5. Jhangiani SN
6. Schuette J
7. Godiwala N
8. Yatsenko SA
9. Sebastian J
10. Madan-Khetarpal S
11. Surti U
12. Abellar RG
13. Bateman DA
14. Wilson AL
15. Markham MH
16. Slamon J
17. Santos-Simarro F
18. Palomares M
19. Nevado J
20. Lapunzina P
21. Chung BH
22. Wong WL
23. Chu YW
24. Mok GT
25. Kerem E
26. Reiter J
27. Ambalavanan N
28. Anderson SA
29. Kelly DR
30. Shieh J
31. Rosenthal TC
32. Scheible K
33. Steiner L
34. Iqbal MA
35. McKinnon ML
36. Hamilton SJ
37. Schlade-Bartusiak K
38. English D
39. Hendson G
40. Roeder ER
41. DeNapoli TS
42. Littlejohn RO
43. Wolff DJ
44. Wagner CL
45. Yeung A
46. Francis D
47. Fiorino EK
48. Edelman M
49. Fox J
50. Hayes DA
51. Janssens S
52. De Baere E
53. Menten B
54. Loccufier A
55. Vanwalleghem L
56. Moerman P
57. Sznajer Y
58. Lay AS
59. Kussmann JL
60. Chawla J
61. Payton DJ
62. Phillips GE
63. Brosens E
64. Tibboel D
65. de Klein A
66. Maystadt I
67. Fisher R
68. Sebire N
69. Male A
70. Chopra M
71. Pinner J
72. Malcolm G
73. Peters G
74. Arbuckle S
75. Lees M
76. Mead Z
77. Quarrell O
78. Sayers R
79. Owens M
80. Shaw-Smith C
81. Lioy J
82. McKay E
83. de Leeuw N
84. Feenstra I
85. Spruijt L
86. Elmslie F
87. Thiruchelvam T
88. Bacino CA
89. Langston C
90. Lupski JR
91. Sen P
92. Popek E
93. Stankiewicz P
Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins.; Human genetics; Vol 135(5). 2016 May.
1. Petersen AK
2. Ahmad A
3. Shafiq M
4. Brown-Kipphut B
5. Fong CT
6. Anwar Iqbal M
Deletion 1q43 encompassing only CHRM3 in a patient with autistic disorder.; European journal of medical genetics; Vol 56(2). 2013 Feb.
1. Coppage M
2. Iqbal A
3. Ahmad A
4. Becker 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.
1. Velinov M
2. Ahmad A
3. Brown-Kipphut B
4. Shafiq M
5. Blau J
6. Cooma R
7. Roth P
8. Iqbal 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.
1. Vargas H
2. Beldia G
3. Korosh W
4. Sudhalter V
5. Iqbal A
6. Sanchez-Lacay JA
7. Velinov 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.
1. Cherry AM
2. Slovak ML
3. Campbell LJ
4. Chun K
5. Eclache V
6. Haase D
7. Haferlach C
8. Hildebrandt B
9. Iqbal AM
10. Jhanwar SC
11. Ohyashiki K
12. Sole F
13. Vandenberghe P
14. VanDyke DL
15. Zhang Y
16. Dewald 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.
1. Johnson MD
2. O'Connell M
3. Iqbal MA
4. Williams JP
Radiation effects on human leptomeningeal cell response to cerebrospinal fluid and PDGF-BB.; International journal of radiation biology; Vol 88(7). 2012 Jul.
1. Ahmad A
2. Iqbal 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.
1. Pryor JG
2. Brown-Kipphut BA
3. Iqbal A
4. Scott 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.
1. Kaya N
2. Al-Muhsen S
3. Al-Saud B
4. Al-Bakheet A
5. Colak D
6. Al-Ghonaium A
7. Al-Dhekri H
8. Al-Mousa H
9. Arnaout R
10. Al-Owain M
11. Iqbal M
ICF syndrome in Saudi Arabia: immunological, cytogenetic and molecular analysis.; Journal of clinical immunology; Vol 31(2). 2011 Apr.
1. Aljurf M
2. Al Qurashi F
3. Al Mohareb F
4. Sahovic E
5. Al Sharif F
6. Al Zahrani H
7. Al Shanqeeti A
8. Owaidah T
9. Iqbal A
10. Zaidi SZ
11. Nurgat ZA
12. Sanz M
13. Chaudhri 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.
1. Chun K
2. Hagemeijer A
3. Iqbal A
4. Slovak 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.
1. Al-Owain M
2. Kaya N
3. Al-Zaidan H
4. Bin Hussain I
5. Al-Manea H
6. Al-Hindi H
7. Kennedy S
8. Iqbal MA
9. Al-Mojalli H
10. Al-Bakheet A
11. Puel A
12. Casanova JL
13. Al-Muhsen S
Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy.; Clinical & developmental immunology; Vol 2010. 2010.
1. Iqbal MA
2. Al-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.
1. Szych CM
2. Liesveld JL
3. Iqbal MA
4. Li L
5. Siebert S
6. Asmus C
7. O'Malley J
8. Lee A
9. Wang N
Isodicentric Philadelphia chromosomes in imatinib mesylate (Gleevec)-resistant patients.; Cancer genetics and cytogenetics; Vol 174(2). 2007 Apr 15.
1. Owaidah TM
2. Al Beihany A
3. Iqbal MA
4. Elkum N
5. Roberts GT
Cytogenetics, molecular and ultrastructural characteristics of biphenotypic acute leukemia identified by the EGIL scoring system.; Leukemia; Vol 20(4). 2006 Apr.
1. Hellani A
2. Al-Hassan S
3. Iqbal MA
4. Coskun S
Y chromosome microdeletions in infertile men with idiopathic oligo- or azoospermia.; Journal of experimental & clinical assisted reproduction; Vol 3. 2006.
1. Iqbal MA
2. Al-Omar HM
3. Owaidah T
4. Al-Humaidan H
5. Bhuiyan ZA
6. Sahovic 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.
1. Iqbal MA
2. Ramadan S
3. Ali FA
4. Kurdi 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.
1. Al-Mutair A
2. Iqbal MA
3. Sakati N
4. Ashwal A
Cytogenetics and etiology of ambiguous genitalia in 120 pediatric patients.; Annals of Saudi medicine; Vol 24(5). 2004 Sep.
1. Al-Qurashi FH
2. Owaidah T
3. Iqbal MA
4. Aljurf 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.
1. Boumah CE
2. Meyer B
3. Aljurf M
4. Bertilsson PA
5. Pyle RH
6. Al-Hussein KA
7. Iqbal A
8. Gyger 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.
1. Nounou R
2. Al-Zahrani H H
3. Ajarim DS
4. Martin J
5. Iqbal A
6. Naufal R
7. Stuart R
8. Roberts G
9. Gyger 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.
1. Raziuddin S
2. Iqbal MA
3. Khalil S
4. Siraj AK
5. Butt AI
6. Al-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.
1. Iqbal MA
2. Sakati N
3. Nester M
4. Ozand 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.
1. Iqbal MA
2. Akhtar M
3. Ulmer C
4. Al-Dayel F
5. Paterson MC
FISH analysis in chromophobe renal-cell carcinoma.; Diagnostic cytopathology; Vol 22(1). 2000 Jan.
1. Iqbal MA
2. Ulmer C
3. Sakati 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.
1. Iqbal MA
2. Akhtar M
3. Al Dayel F
4. Ulmer C
5. Paterson MC
Use of FISH analysis for diagnosis of renal cell carcinoma subtypes.; Annals of Saudi medicine; Vol 19(6). 1999 Nov.
1. Akhtar M
2. Iqbal MA
3. Mourad W
4. Ali MA
Fine-needle aspiration biopsy diagnosis of small round cell tumors of childhood: A comprehensive approach.; Diagnostic cytopathology; Vol 21(2). 1999 Aug.
1. Akhtar M
2. Iqbal MA
Genetics of small round cell tumors of children.; Annals of Saudi medicine; Vol 18(4). 1998 Jul.
1. Jackson GH
2. Taylor PR
3. Iqbal A
4. Galloway MJ
5. Turner G
6. Haynes A
7. Hamilton PJ
8. Russell N
9. Proctor 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.
1. Iqbal A
FISHing genes and chromosomes from human cells.; Annals of Saudi medicine; Vol 17(4). 1997 Jul.
1. Iqbal MA
2. Ahmed MZ
3. Wu D
4. Sakati 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.