Research Publications of Human Genetics
1. Shafique QUA, Rehman HM, Zaheer T, Tahir RA, Munir A. Bhinder, Gul R, Saleem M. A (2021). Computational Approach to Modeling an Antagonistic Angiogenic VEGFR1-IL2 Fusion Protein for Cancer Therapy. Bioinformatics and biology insights 15, 11779322211043297.
2. Mahmood S Choudhery (2021).Strategies to improve regenerative potential of mesenchymal stem cells. World Journal of Stem Cells. DOI: 10.4252/wjsc.v0.i0.0000.
3. Ajaz S, Muneer R, Siddiqa A, Ali Memon M, Firasat S, Abid A, Khaliq S (2021). Association of specific single nucleotide variants (SNVs) in the promoter and 3'-Untranslated region of Vascular Endothelial growth factor (VEGF) gene with risk and higher tumour grade of head and neck cancers. Oral Oncology. 122:105519. doi: 10.1016/j.oraloncology.2021.105519.
4. Sadia H, Munir A. Bhinder, Irshad A, Zahid B, Ahmed R, Ashiq S, Malik K, Riaz M, Nadeem T, Ashiq K, Akbar A (2020). Determination of expression profile of p53 gene in different grades of breast cancer tissues by real time PCR. Afri Health Sci. 20(3): 1273-1282.
5. Khan MU, Sadia H, Irshad A, Baig AA, Ashiq S, Zahid B, Sheikh R, Roshan S, Ali A, Shamas S, Munir A. Bhinder, Ahmad R (2020). Detection, quantification and genotype distribution of HCV patients in Lahore, Pakistan by real-time PCR. Afri Health Sci. 20(3): 1143-1152.
6. Rehman HM, Mirza MU, Ahmad MA, Saleem M, Froeyen M, Ahmad S, Gul R, Alghamdi HA, Aslam MS, Sajjad M, Munir A. Bhinder (2020). A Putative Prophylactic Solution for COVID-19: Development of Novel Multiepitope Vaccine Candidate against SARS-COV-2 by Comprehensive Immunoinformatic and Molecular Modelling Approach. Biology (Basel.) 9(9): E296.
7. Ghufran MF, Riaz S, Mahmood N, Yaqoob M, Shahid S, Munir Ahmad Bhinder, Anwar S (2019). Polymorphism of interleukin-10 (IL-10, -1082 G/A) and interleukin-28B (IL-28B, C/T) in pediatric acute lymphoblastic leukemia (ALL). Pak. J. Pharm. Sci., 32(5) (Suppl): 2357-2361.
8. Muhammad Yasir Zahoor, Huma Arshad Cheema, Sadaqat Ijaz, Muhammad Nadeem Anjum, Khushnooda Ramzan, Munir Ahmad Bhinder (2019). Mapping of IDUA gene variants in mucopolysaccharidosis type 1 Pakistani patients. Journal of pediatric endocrinology & metabolism. Vol. 32, iss:11.
9. Ghulam Hussain, Usman Ali Ashfaq, Mahmood-ur-Rahman, Muhammad Shareef Masoud, Nazia Nahid, Munir Ahmad Bhinder, Nosheen Aslam,Numan Yousaf, Uzair Ahmed, Muhammad Qasim (2019). Computational screening of phytochemicals against survivin protein: A potent target for cancer. Pakistan Journal of Pharmaceutical Sciences. 32(3) (Suppl):1145-1154.
10. Munir Ahmad Bhinder, Haleema Sadia, Nasir Mahmood, Shah Jahan, Muhammad Qasim, Muhammad Yasir Zahoor, Zawar Hussain, Muhammad Mudassar Rashid, Ali Muhammad Waryah (2019). Consanguinity: a Blessing or Menace at population level. Annals of Human Genetics. 83(4):214-219.
11. Waryah YM, Iqbal M, Sheikh SA, Baig MA, Narsani AK, Atif M, Munir A. Bhinder, Ur Rahman A, Memon A I, Pirzado MS, Waryah AM (2019). Two Novel Variants in CYP1B1 gene: A major contributor of autosomal recessive Primary Congenital Glaucoma with allelic heterogeneity in Pakistani patients. International Journal of Ophthalmology. 12(1):8-15.
12. Tariq M, Butt NS, Mansha M, Munir A. Bhinder (2019). Breeding performance and disease profile of six peafowl species in captivity at Jallo breeding center, Lahore. Pure and Applied Biology. 8(1): 312-320.
13. Munir A. Bhinder, Zahoor MY, Sadia H, Qasim M, Perveen R, Anjum GM, Iqbal M, Ullah N, Shehzad W, Tariq M, Waryah AM (2018). SE33 locus as a reliable genetic marker for forensic DNA analysis systems. Turkish Journal of Medical Sciences. 48(3): 611-614.
14. Madiha S, Farkhanda H, Shahida P, Faiza N, Ali Amar, Aiysha A Shagufta K. (2017). In Silico Analysis of Nphs1 Gene Mutations Identified in Patients with Steroid Resistant Nephrotic Syndrome. JOJ uro & nephron.; 2(5): 555599. DOI: 10.19080/JOJUN.2017.2.555599
15. Amar, A., Afzal, A., Hussain, S.A., Hameed, A., Khan, A.R., Shakoor, M., Abid, A. and Khaliq, S. (2019). Association of vitamin D receptor gene polymorphisms and risk of urolithiasis: results of a genetic epidemiology study and comprehensive meta-analysis. Urolithiasis, pp.1-17.
16. Ali, T., Gul, S., Amar, A., Shakoor, M., Farhan, S., Mohsin, S. and Khaliq, S., (2020). Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees. International Journal of Laboratory Hematology.
17. Ajaz S, Zaidi SZ, Ali SM, Ali Memon M, Firasat S, Abid A, Khaliq S (2021). Absence of Glutathione S-Transferase Theta 1 Gene is Significantly Associated with Breast Cancer Susceptibility in Pakistani Population and Poor Overall Survival in Breast Cancer Patients: A Case-Control and Case Series Analysis 11: 4857. Doi: 10.3389/fonc.2021.678705.
18. Rauff, B., Amar, A., Chudhary, S. A., Mahmood, S., Tayyab, G. U. N.and Hanif, R. (2021). Interferon-? rs12979860 genotype association with liver fibrosis in chronic hepatitis C (CHC) patients in the Pakistani population. Arch. Virol. doi: 10.1007/s00705-020-04901-2.
19. Qadeer, M. I., Amar, A., Huang, Y.-Y., Min, E., Galfalvy, H., Hasnain, S.and Mann, J. J. (2021). Association of serotonin system-related genes with homicidal behavior and criminal aggression in a prison population of Pakistani Origin. Sci. Rep., 11(1): 1670.
20. Majmundar, A. J., Buerger, F., Forbes, T. A., Kl�mbt, V., Schneider, R., Deutsch, K., Kitzler, T. M., Howden, S. E., Scurr, M., Tan, K. S., Krzeminski, M., Widmeier, E., Braun, D. A., Lai, E., Ullah, I., Amar, A., Kolb, A., Eddy, K., Chen, C. H., Salmanullah, D., Dai, R., Nakayama, M., Ottlewski, I., Kolvenbach, C. M., Onuchic-Whitford, A. C., Mao, Y., Mann, N., Nabhan, M. M., Rosen, S., Forman-Kay, J. D., Soliman, N. A., Heilos, A., Kain, R., Aufricht, C., Mane, S., Lifton, R. P., Shril, S., Little, M. H.and Hildebrandt, F. (2021). Recessive NOS1AP variants impair actin remodeling and cause glomerulopathy in humans and mice. Science Advances, 7(1): eabe1386.
21. Ehsan Y, Bashir S, Sabir F, Ghafoor M, Khaliq S. (2020). Six-year experience of prenatal diagnosis for beta thalassemia in twin pregnancies and selective foetal reduction-A case series. Pakistan. J Pak Med Assoc 70(11):2061-2064.
22. Amar, A., Afzal, A., Hameed, A., Ahmad, M., Khan, A. R., Najma, H., Abid, A. and Khaliq, S. 2020. Osteopontin promoter polymorphisms and risk of urolithiasis: a candidate gene association and meta-analysis study. BMC Med. Genet., 21.
23. Ali, T., Gul, S., Amar, A., Shakoor, M., Farhan, S., Mohsin, S. and Khaliq, S. (2020). Two homozygous missense mutations in ITGB3 gene as a cause of Glanzmann Thrombasthenia in four consanguineous Pakistani pedigrees. Int. J. Lab. Hematol. https://doi.org/10.1111/ijlh.13266.
24. Khalid, T., Amar, A. and Khaliq, S. (2020). Host genetic and epigenetic factors in determining clinical outcome of coronavirus disease-2019. Biomedica, 36(COVID19-S2): 175-184.
25. Amar, A., Afzal, A., Hussain, S. A., Hameed, A., Khan, A. R., Shakoor, M., Abid, A. Khaliq, S. (2020). Association of vitamin D receptor gene polymorphisms and risk of urolithiasis: results of a genetic epidemiology study and comprehensive meta-analysis. Urolithiasis. 48, 385�401.
26. Kampf, L. L., Schneider, R., Gerstner, L., Th�nauer, R., Chen, M., Helmst�dter, M., Amar, A., Onuchic-Whitford, A. C., Munarriz, R. L., Berdeli, A., M�ller, D., Schrezenmeier, E., Budde, K., Mane, S., Laricchia, K. M., Rehm, H. L., Macarthur, D. G., Lifton, R. P., Walz, G., R�mer, W., Bergmann, C., Hildebrandt, F.and Hermle, T. (2019). TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome. J. Am. Soc. Nephrol., 30(12): 2338-2353.
27. Umer Khan, M., Rehman, R., Kaul, H., Mahmood, S. and Ammar, A. (2019). Mutational analysis of CYP1B1 gene in Pakistani pediatric patients affected with Primary Congenital Glaucoma. Adv Life Sci, 7(1): 32-37.
28. Iram, S., Aftab, I., Bano, S., Amar, A., Ali, N., Jahan, S., Khaliq, S.and Mohsin, S. (2019). FANCA Gene in Pakistani Fanconi Anemia Patients: Screening of Mutations in Exon 28 and Exon 29. Int J Med Res Health Sci, 8(11): 32-38.
29. Amar A, Majmundar AJ, Ullah I, Afzal A, Braun DA, Shril S, Daga A, Jobst-Schwan T, Ahmad M, Sayer JA, Gee HY, Halbritter J, Kn�pfel T, Hernando N, Werner A, Wagner C, Khaliq S, Hildebrandt F. (2019). Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis. Hum Genet. 138(3):211-219. doi: 10.1007/s00439-019-01978-x. Epub 2019 Feb 18. PMID: 30778725; PMCID: PMC6426152.
30. Albegali, A. A., Shahzad, M., Mahmood, S., Ullah, M. I., Amar, A. and Sajjad, O. (2019). Genetic polymorphism of eNOS (G894T) gene in insulin resistance in type 2 diabetes patients of Pakistani population. Int J Diabetes Dev Ctries
31. Albegali, A.A., Shahzad, M., Mahmood, S. and Ullah, M.I., (2019). Genetic association of insulin receptor substrate-1 (IRS-1, rs1801278) gene with insulin resistant of type 2 diabetes mellitus in a Pakistani population. Molecular biology reports, 46(6), pp.6065-6070.
32. Albegali, A.A., Shahzad, M., Ullah, M.I., Mahmood, S. and Rashid, M., (2019). Association of genetic polymorphism of PC?1 gene (rs1044498 Lys121Gln) with insulin?resistant type 2 diabetes mellitus in Punjabi Population of Pakistan. Molecular genetics & genomic medicine, 7(8), p.e775.
33. von Schnurbein, J., Manzoor, J., Brandt, S., Denzer, F., Kohlsdorf, K., Fischer-Posovszky, P., Weissenberger, M., Frank-Podlech, S., Mahmood, S. and Wabitsch, M., (2019). Leptin is not essential for obesity-associated hypertension. Obesity facts, 12(4), pp.460-475.
34. Rashid, M., Shahzad, M., Mahmood, S. and Khan, K., (2019).Variability in the therapeutic response of Metformin treatment in patients with type 2 diabetes mellitus. Pakistan journal of medical sciences, 35(1), p.71.
35. Shakil, M., Harlalka, G.V., Ali, S., Lin, S., D�Atri, I., Hussain, S., Nasir, A., Shahzad, M.A., Ullah, M.I., Self, J.E. and Baple, E.L., Mahmood, S. (2019).Tyrosinase (TYR) gene sequencing and literature review reveals recurrent mutations and multiple population founder gene mutations as causative of oculocutaneous albinism (OCA) in Pakistani families. Eye, 33(8), pp.1339-1346
36. Abid, A., Shahid, S., Shakoor, M., Lanewala, A.A., Hashmi, S. and Khaliq, S., (2018). Screening of the LAMB2, WT1, NPHS1, and NPHS2 Genes in Pediatric Nephrotic Syndrome. Frontiers in Genetics, 9, p.214.
37. van der Ven AT, Connaughton DM, Ityel H, Mann N, Nakayama M, Chen J, Vivante A, Hwang DY, Schulz J, Braun DA, Schmidt JM, Schapiro D, Schneider R, Warejko JK, Daga A, Majmundar AJ, Tan W, Jobst-Schwan T, Hermle T, Widmeier E, Ashraf S, Amar A, Hoogstraaten CA, Hugo H, Kitzler TM, Kause F, Kolvenbach CM, Dai R, Spaneas L, Amann K, Stein DR, Baum MA, Somers MJG, Rodig NM, Ferguson MA, Traum AZ, Daouk GH, Bogdanovi? R, Staji? N, Soliman NA, Kari JA, El Desoky S, Fathy HM, Milosevic D, Al-Saffar M, Awad HS, Eid LA, Selvin A, Senguttuvan P, Sanna-Cherchi S, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Wilson MW, Mane SM, Lifton RP, Lee RS, Bauer SB, Lu W, Reutter HM, Tasic V, Shril S, Hildebrandt F. (2018). Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol. 29(9):2348-2361. doi: 10.1681/ASN.2017121265. Epub. PMID: 30143558; PMCID: PMC6115658.
38. Frank-Podlech, S., von Schnurbein, J., Veit, R., Heni, M., Machann, J., Heinze, J.M., Kullmann, S., Manzoor, J., Mahmood, S., H�ring, H.U. and Preissl, H., (2018). Leptin replacement reestablishes brain insulin action in the hypothalamus in congenital leptin deficiency. Diabetes care, 41(4), pp.907-910.
39. Shahzad K, Bock F, Al-Dabet MM, Gadi I, Kohli S, Nazir S, Ghosh S, Ranjan S, Wang H, Madhusudhan T, Nawroth PP and Isermann B. Caspase-1, but Not Caspase-3, Promotes Diabetic Nephropathy. J Am Soc Nephrol. 2016;27:2270-5.
40. Shahzad K, Bock F, Al-Dabet MM, Gadi I, Nazir S, Wang H, Kohli S, Ranjan S, Mertens PR, Nawroth PP and Isermann B. Stabilization of endogenous Nrf2 by minocycline protects against Nlrp3-inflammasome induced diabetic nephropathy. Sci Rep. 2016;6:34228.
41.Kohli S, Ranjan S, Hoffmann J, Kashif M, Daniel EA, Al-Dabet MM, Bock F, Nazir S, Huebner H, Mertens PR, Fischer KD, Zenclussen AC, Offermanns S, Aharon A, Brenner B, Shahzad K, Ruebner M and Isermann B. Maternal extracellular vesicles and platelets promote preeclampsia via inflammasome activation in trophoblasts. Blood. 2016;128:2153-2164.
42. Wolter J, Schild L, Bock F, Hellwig A, Gadi I, Al-Dabet MM, Ranjan S, Ronicke R, Nawroth PP, Petersen KU, Mawrin C, Shahzad K and Isermann B. Thrombomodulin-dependent protein C activation is required for mitochondrial function and myelination in the central nervous system. J Thromb Haemost. 2016;14:2212-2226.
43. Madhusudhan T, Wang H, Dong W, Ghosh S, Bock F, Thangapandi VR, Ranjan S, Wolter J, Kohli S, Shahzad K, Heidel F, Krueger M, Schwenger V, Moeller MJ, Kalinski T, Reiser J, Chavakis T and Isermann B. Defective podocyte insulin signalling through p85-XBP1 promotes ATF6-dependent maladaptive ER-stress response in diabetic nephropathy. Nat Commun. 2015;6:6496.
44. Dong W*, Wang H*, Shahzad K*, Bock F, Al-Dabet MM, Ranjan S, Wolter J, Kohli S, Hoffmann J, Dhople VM, Zhu C, Lindquist JA, Esmon CT, Grone E, Grone HJ, Madhusudhan T, Mertens PR, Schluter D and Isermann B. Activated Protein C Ameliorates Renal Ischemia-Reperfusion Injury by Restricting Y-Box Binding Protein-1 Ubiquitination. * equal contributing first author J Am Soc Nephrol. 2015;26:2789-99.
45. Shahzad K, Bock F, Dong W, Wang H, Kopf S, Kohli S, Al-Dabet MM, Ranjan S, Wolter J, Wacker C, Biemann R, Stoyanov S, Reymann K, Soderkvist P, Gross O, Schwenger V, Pahernik S, Nawroth PP, Grone HJ, Madhusudhan T and Isermann B. Nlrp3-inflammasome activation in non-myeloid-derived cells aggravates diabetic nephropathy. Kidney Int. 2015;87:74-84.
46. Bock F, Shahzad K, Vergnolle N and Isermann B. Activated protein C based therapeutic strategies in chronic diseases. Thromb Haemost. 2014;111:610-7.
47. Wang H, Vinnikov I, Shahzad K, Bock F, Ranjan S, Wolter J, Kashif M, Oh J, Bierhaus A, Nawroth P, Kirschfink M, Conway EM, Madhusudhan T and Isermann B. The lectin-like domain of thrombomodulin ameliorates diabetic glomerulopathy via complement inhibition. Thromb Haemost. 2012;108:1141-53.
48. Munir Ahmad Bhinder (2017). Consanguineous Marriage: A Peril for Coming Generation. Journal of Genetic Disorders. Vol.1 No.1:08.
49. Sadaqat Ijaz, Muhammad Yasir Zahoor, Muhammad Imran, Khushnooda Ramzan, Munir Ahmad Bhinder, Hussain Shakeel, Muhammad Iqbal, Asim Aslam, Wasim Shehzad, Huma Arshad Cheema, Habib ur Rehman (2017). Genetic analysis of FBPase deficiency in nine consanguineous Pakistani families. Journal of pediatric endocrinology & metabolism: 30 (11):1203-1210.
50. Munir Ahmad Bhinder, Muhammad Waqar Arshad, Muhammad Yasir Zahoor, Wasim Shehzad, Muhammad Tariq and Muhammad Imran Shabbir (2017). Junctional Epidermolysis Bullosa (non-Herlitz type). Journal of College of Physicians and Surgeons of Pakistan. 27 (5): 308-310
51. Muhammad Iqbal, Muhammad A. Baig, Munir A. Bhinder, Muhammad Y. Zahoor (2016). Factors causing mental retardation. Asian Journal of Natural & Applied Sciences: 5(3) : 28-37
52. Sadaqat Ijaz, Muhammad Yasir Zahoor, Muhammad Imran, Sibtain Afzal, Munir A. Bhinder, Ihsan Ullah, Huma Arshad Cheema, Khushnooda Ramzan and Wasim Shehzad (2016). Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation. Journal of pediatric endocrinology & metabolism: JPEM 29(3):327-32
53. Munir Ahmad Bhinder, Muhamad Iqbal, Muhammad Shahbaz, Muhammad Yasir Zahoor, Muhammad Wasim (2015) Avian Biodiversity of Bajwat wetland District Sialkot. The Journal of Animal and Plant Sciences. 25(3 Supp. 2) 2015 Special Issue. Page: 416-422
54. Shakeela Daud, Saqib Shahzad, Muhammad Shafique, Munir Ahmad Bhinder, Muhammad Niaz, Asif Naeem, Azam Ali, Zia-ur-Rehman, Tayyab Husnain. (2014). Optimization and validation of PCR for three hypervariable regions (HVI, HVII and HVIII) in human mitochondrial DNA. Advancements in life sciences. 1(3): 165-170
55. Shahzad M, Sivakumaran TA, Qaiser TA, Schultz JM, Hussain Z, Flanagan M, Bhinder MA, Kissell D, Greinwald JH Jr, Khan SN, Friedman TB, Zhang K,Riazuddin S, Riazuddin S, Ahmed ZM (2013). Genetic Analysis through OtoSeq of Pakistani Families Segregating Prelingual Hearing Loss. Otolaryngol Head Neck Surg. (June 2013) 149(3):478-87.
56. Ali M Waryah, Zubair M Ahmed, Munir A Bhinder, Daniel I Choo, Robert A Sisk, Mohsin Shahzad, Shaheen N Khan, Thomas B Friedman, Sheikh Riazuddin and Saima Riazuddin. (2011) Molecular and clinical studies of X -linked deafness among Pakistani families. Journal of Human Genetics. 56(7):534-40
57. Byung Yoon Choi, Zubair M. Ahmed, Saima Riazuddin, Munir A. Bhinder, Mohsin Shahzad, Tayyab Husnain, Sheikh Riazuddin, Andrew J Griffith, Thomas B Friedman (2009). Identities and frequencies of mutations of the Otoferlin gene (OTOF) causing DFNB9 deafness in Pakistan. Clinical Genetics 75(3):237-243.
58. Byung Y choi, Saima Riazuddin, Zubair M Ahmed, Uzma Shaukat, Munir A. Bhinder, Shahid Y. Khan, Sheikh Riazuddin, John A. Butman, Andrew J. Griffith, Thomas B. Friedman. (2010) Variable Expressivity of FGF3 Mutations Associated with Deafness and LAMM Syndrome. Abstract# 1006, Volume:33 Page: 345 [Abstract published in Abstract book of 33rd ARO midwinter meeting, in Anaheim, USA]
59. Shahzad M, Sivakumaran TA, Qaiser TA, Schultz JM, Hussain Z, Flanagan M, Bhinder MA, Kissell D, Greinwald JH Jr, Khan SN, Friedman TB, Zhang K,Riazuddin S, Riazuddin S, Ahmed ZM (2013). Genetic Analysis through OtoSeq of Pakistani Families Segregating Prelingual Hearing Loss. Otolaryngol Head Neck Surg. 149(3):478-87.
60. Raza A, Firasat S, Khaliq S, Abid A, Shah SS, Mehdi SQ, Mohyuddin A. (2013) HLA class I and II polymorphisms in the Gujjar population from Pakistan. Immunol Invest. 42(8):691-700.
61. Ahmad, G., Ramadori, P., Martius, G., Sial, G.Z. and Ramadori, G., Transcriptional and translational regulation of HO-1 in the liver and muscle of TO- & LPS-treated IL-6 knockout mice., Antioxidants & Redox Signaling., Article in review.
62. Fatima S, Usman Z, Ali A, Mehmood S, Khaliq S. (2013) Analysis Of Inhibin Alpha (769g>A) Gene Mutations in Patients with Premature Ovarian Failure; Int. Conf. App. Mol. Biol. Med. pp98.
63. Usman Z, Fatima S, Ali A, Mehmood S, Khaliq S. (2013) Sequence analysis of Bone Morphogenetic Protein 15 (BMP15) Gene in patients of Premature Ovarian Failure. Int. Conf. App. Mol. Biol. Med. pp141.
64. Ejaz H, Ul-Haq I, Mahmood S, Zafar A, Mohsin Javed M.(2013) Detection of extended-spectrum ?-lactamases in Klebsiella pneumoniae: comparison of phenotypic characterization methods. Pak J Med Sci. 29(3):768-72.
65. Firasat S, Raza A, Abid A, Aziz T, Mubarak M, Naqvi SA, Rizvi SA, Mehdi SQ, Khaliq S. The effect of chemokine receptor gene polymorphisms (CCR2V64I, CCR5-59029G>A and CR5?32) on renal allograft survival in Pakistani transplant patients. Gene. 11(2):314-319 (2012).
66. Prasov L, Masud T, Khaliq S, Mehdi SQ, Abid A, Oliver ER, Silva ED, Lewanda A, Brodsky MC, Borchert M, Kelberman D, Sowden JC, Dattani MT, Glaser T. ATOH7 mutations cause autosomal recessive persistent hyperplasia of the primary vitreous. Hum Mol Genet. 21(16)3681-3694 (2012).
67. Abid A, Khaliq S, Shahid S, Lanewala A, Mubarak M, Hashmi S, Kazi J, Masood T, Hafeez F, Naqvi SA, Rizvi SA, Mehdi SQ. A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan. Gene. 2012 Jul 10;502(2):133-7. Epub 2012 Apr 28.
68. Ajaz S, Khaliq S, Hashmi A, Rizvi SAH, Mehdi SQ. Polymorphisms in the Methylene Tetrahydrofolate Reductase Gene and their Unique Combinations are Associated with an Increased Susceptibility to the Renal Cell Carcinomas. Genet Test Mol Biomarkers. May;16(5):346-352 (2012).
69. Shahid S, Abid A, Mehdi SQ, Firasat S, Lanewala A, Naqvi SAA, Rizvi SAH, Khaliq S. Association of the ACE – II genotype with the risk of nephrotic syndrome in Pakistani children, Gene. 493:165-168 (2012).
70. Hajan S.S, Abid A, Shahid S, Khaliq S. Identification of LIPH gene mutation in a consanguineous family segregating the woolly hair/hypotrichosis phenotype. J Pak Med Assoc. 61( 11) :1060-1064 (2011).
71. Ajaz S, Khaliq S, Abid A, Hassan AS, Hashmi A, Sultan G, Mohsin R, Mubarrak M, Naqvi SA, Rizvi SA, Mehdi SQ. Association of a Single-Nucleotide Polymorphism in the Promoter Region of the VEGF Gene with the Risk of Renal Cell Carcinoma. Genet Test Mol Biomarkers. 15(9): 653-657(2011).
72. Abid A, Akhtar N, Khaliq S, Mehdi SQ. Genetic heterogeneity for autosomal dominant familial hypertrophic cardiomyopathy in a Pakistani family. J Coll Physicians Surg. Pak. Apr;21(4):202-206. (2011).
