Sunday, July 14, 2024

Dr. Muhammad Tariq Khan |

Principal Scientist

Work Phone: +92 41 9201316-20. Ext:3288
Fax Phone: +92 41 9201472
Dr. Muhammad Tariq Khan


  • PhD. Biotechnology (Human Genetics)2014. School of Biotechnology, NIBGE Campus, Faisalabad. QAU, Islamabad, Pakistan.
  • BS (Hons). Biotechnology 2006. Department of Biotechnology, University of Malakand Chakdara, Dir (Lower), Khyber Pakhtunkhwa.


Research Interests:

My research revolves around the identifyication of genes underlying inherited disorders of brain and heart. The discovery of disease genes, rare or common, adds significantly to our understanding of biology/pathology. With an inbred population to study, we are also looking into the genetics of cardiac disorders in families wherein common gene variants tend to cluster. Together with my reserach group, I aim to accelerate gene discovery and expedite diagnosis, while training exceptional students in methods currently unavailable in Pakistan.



  1. Afridi, T. U. K., Fatima, A., Satti, H. S., Akram, Z., Yousafzai, I. K., Naeem, W. B., Fatima, N, Ali, A. Iqbal, Z., Khan, A., Shahzad, M., LiuC., Toft, M., Zhang, F., Tariq, M., Davis, E. E., Khan, T. N. 2024. Exome sequencing in four families with neurodevelopmental disorders: genotype–phenotype correlation and identification of novel disease-causing variants in VPS13B and RELN. Mol Genet Genomics. 299, 55 (1). DOI: org/10.1007/s00438-024-02149-y
  2. Tariq, M., Wei Zhang, W., Roy, B., Shen, J., Khan, A., Malik, N. A, He, S., Baig, S. M., Fang, X., Zhang, J. 2024. Whole exome sequencing identified a homozygous novel variant in DOP1A gene in the Pakistan family with neurodevelopmental disabilities: Case report and literature review. Front Genet. 15:1351710. 
  3. Zulfiqar, S., Moawia, A., Waseem, S. S., Ali, Z., Ramzan, S., Anjum, I., Baig, S. M., Tariq, M*. 2024. Whole exome sequencing identifies a novel variant causing Cockayne syndrome Type I in a consanguineous Pakistani family. Int J. Neurosci. 134(1):28-33. 
  4. Ahmad, I., Lokau, J., Kespohl, B., Malik, N. A., Baig, S. M., Hartig, R., Behme, D., Schwab, R., Altmüller, J., Jameel, M., Mucha, S., Thiele, H., Tariq, M., Nürnberg, P., Erdmann, J., Garbers, C. 2023. The interleukin-11 receptor mutation W307R results in craniosynostosis in humans. Sci Rep. 13, 13479.
  5. Yousaf, H., Rehmat, S., Jameel, M., Ibrahim, R., Hashmi, S. N., Makhdoom, E. U. H., Iwaszkiewicz, J., Saadi, S. M., Tariq, M., Baig, S., Toft, M., Fatima, A., Iqbal, Z. 2023. A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability. Clin Genet. 104:324-333.
  6. Ullah, W., Ilyas, M., Tariq, M.*, Imdad, M., Ullah, I., Efthymiou, S., Faheem, M., Abbas, M., SYNAPS Study Group, Aamir, M., Nouman, M., Houlden, H. 2023. Exome Sequencing Identifies a Novel Pathogenic Variant in RAB3GAP1 Causing Warburg Micro Syndrome in a Pakistani Family. Int J. Dev. Neurosci. 83(4):368-373.
  7. Ayan, H. N. U., Ali, P. S., Korejo, A. A., Thiele, H., Nürnberg, P., Tariq, M., Jamal, S. Z., Erdmann, J., Ahmad, I. 2023. Homozygous frameshift variant in desmoglein-2 causes biventricular arrhythmogenic right ventricular cardiomyopathy. Clin Genet. 104:266-268.
  8. Ahmad, I., Khan, A., Ayan, H. N. U., Budde, B., Altmüller, J., Korejo, A. A., Thiele, H., Tariq, M., Nürnberg, P., Erdmann, J. 2022. A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family. J. Hum Genet. 68:107-109.
  9. Khan, A., Tian, S., Tariq, M., Khan, T., Safeer, M., Ullah, N., Akbar, N., Javed, I., Asif, M., Ahmad, I., Ullah, S., Satti, H. S., Khan, R., Naeem, M., Ali, M., Rendu, J., Fauré, J., Dieterich, K., Latypova, X., Baig, S. M., Malik, N. A., Zhang, F., Khan, T. N., Liu, C. 2022. NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveal novel and known variants in disease-causing genes. Mol Genet Genomics. 297(6):1601-1613.
  10. Faryal, S., Chopra, A., Tariq, M., Sher, M., Jamal, A. N., Tommerup, N., Baig, S. M. 2022. Single Nucleotide Polymorphisms (SNPs) and Asthma: A Population-Based Risk Association Study in Pakistan. Int J. Med Sci Clin Res Rev. 5(3):120-139.
  11. Ullah, F., Rauf, W., Khan, K., Khan, S., Bell, K., Oliviera, V., Tariq, M., Bakhshalizadeh, S., Touraine, P., Sinclair, A., He, S., Tucker, E., Baig, S. M., Davis, E. 2021. A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss. Hum Genet. 140(12):1733-1751.
  12. Zulfiqar, S., Tariq, M., Ramzan, S., Khan, A., Sher, M., Ali, Z., Dahl, N., Abdullah, U., Baig, S. M. 2021. Identification of a novel variant in GPR56/ADGRG1 gene through whole exome sequencing in a consanguineous Pakistani family. J. Clin Neurosci. 94:8-12.
  13. Waseem, S. S., Moawia, A., Budde, B., Tariq, M., Khan, A., Ali, Z., Khan, S., Iqbal, M., Malik, N. A., Haque, S., Altmüller, J., Thiele, H., Hussain, M. S., Cirak, S., Baig, S. M., Nürnberg, P. 2021. A homozygous AKNA frameshift variant is associated with microcephaly in a Pakistani family. Genes. 12(10):1494.
  14. Kaygusuz, E., Khayyat, A. I. A., Abdullah, U., Budde, B., Asif, M., Ahmad, I., Makhdoom, E. H.,  Sur, I., Baig, J. M., Khan, M. M. A., Toliat, M. R., Becker, C., Anwar, H., Iqbal, M., Fischer, S., Jameel, M., Sher, M., Tariq, M., Malik, N. A., Noegel, A. A., Hassan, M. J., Thiele, H., Tinschert, S., Eichinger, L., Höning, S., Baig, S. M., Nürnberg, P., Hussain. M. S. 2021. A 24-generation-old founder mutation impairs splicing of RBBP8 in Pakistani families affected with Jawad syndrome. Clin Genet. 100:486-488.
  15. Ramzan, S., Tennstedt, S., Tariq, M., Khan, S., Ayan, H. N. U., Ali, A., Munz, M., Thiele, H., Korejo, A. A., Mughal, A. R., Jamal, S. Z., Nuernberg, P., Baig, S. M., Erdmann, J., Ahmad, I. 2021. A novel missense mutation in TNNI3K causes recessively inherited cardiac conduction disease in a consanguineous Pakistani family. Genes. 12(8):1282.
  16. Makhdoom E. U. H., Waseem, S. S., Iqbal, M., Abdullah, U., Hussain, G., Asif, M., Budde, B., Höhne, W., Tinschert, S., Saadi, S. M., Yousaf, H., Ali, Z., Fatima, A., Kaygusuz, E., Khan, A., Jameel, M., Khan, S., Tariq, M., Anjum, I., Altmüller, J., Thiele, H., Höning, S., Baig, S. M., Nürnberg, P., Hussain, M. S. 2021. Modifier genes in microcephaly: a report on WDR62, CEP63, RAD50 and PCNT variants exacerbating disease caused by biallelic mutations of ASPM and CENPJ. Genes. 12(5):731.
  17. Khan, N. M., Hussain, B., ChenQing, Z., Khan, A., Masoud, M. S., Gu, Q., Qiu, L., Malik, N. A., Qasim, M., Tariq, M., Chang, J. 2021. Updates on clinical and genetic heterogeneity of ASPM in 12 autosomal recessive primary microcephaly families in Pakistani population. Front Pediatr. 6;9:695133.
  18. Tariq, M., Zhou, Y., He, S., Abdullah, U., Zhang, J., Baig, S.M. 2020. Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families. BMC Med Genom. 18;21(1):151.
  19. Akram, T., Fatima, A., Klar, J., Hoeber, J., Zakaria, M., Tariq, M., Baig, S. M., Schuster, M., Dahl, N. 2020. Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele. Int J Hematol. 112(6):894-899.
  20. Rasool, S., Baig, J. M., Moawia, A., Ahmad, I., Iqbal, M., Waseem, S. S., Asif, M., Abdullah, U., Makhdoom, E. H., Kaygusuz, E., Zakaria, M., Ramzan, S., Haque, S., Mir, A., Anjum, I., Fiaz, M., Ali, Z., Tariq, M., Saba, N., Hussain, W., Budde, B., Irshad, S., Noegel, A. A., Höning, S., Baig, S. M., Nürnberg, P., Hussain, M. S. 2020. An update of pathogenic variants in WDR62, CDK5RAP2, ASPM, CENPJ, STIL and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan. Mol Genet & Genomic Med. 17;e1408.
  21. Farooq, R., Hussain, K., Tariq, M., Farooq, A., Mustafa, M. 2020. CRISPR/CAS9; targeted genome editing for the treatment of hereditary hearing loss. J Appl Genet. 61(1):51-65.
  22. Zulfiqar, S., Tariq, M., Ali, Z., Fatima, A., Klar, J., Abdullah, U., Ali, A., Ramzan, S., He, S., Zhang, J., Khan, A., Shah, S., Khan, S., Makhdoom, E., Schuster, J., Dahl, N., Baig, S. M. 2019. Whole exome sequencing identifies novel variant underlying hereditary spastic paraplegia in consanguineous Pakistani families. J. Clin Neurosci. 67:19-23.
  23. Zakaria, M., Fatima, A., Klar, J., Wikström, J., Abdullah, U., Ali, Z., Akram, T., Tariq, M., Ahmad, H., Schuster, J., Baig, S. M., Dahl, N. 2019. Primary microcephaly, primordial dwarfism and brachydactyly in adult cases with bi-allelic skipping of RTTN exon 42. Hum Mutat. 40:899-903.
  24. Baig, S. M., Fatima, A., Tariq, M., Khan, T. N., Ali, Z., Faheem, M., Mahmood, H., Killela, P, Waitkus, M., He, Y., Zhao, F., Wang, S., Jiao, Y., Yan, H. 2019. Hereditary brain tumor with homozygous germline mutation in PMS2: pedigree analysis and prenatal screening in a family with constitutional mismatch repair deficiency (CMMRD) syndrome. Fam Cancer. 18(2);261-265.
  25. Tariq, M., Khan, T. N., Lundin L. Jameel, M., Lönnerholm, T., Baig, S. M., Dahl, N., Klar, J. 2018. Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia. Clin Genet. 93(1):182-186.
  26. Fatima, A., Farooq, M., Abdullah, U., Tariq, M., Mustafa, T., Iqbal, M., Tommerup, N., Baig, S. M. 2017. Genome-wide supported risk variants in MIR137, CACNA1C, CSMD1, DRD2 and GRM3 contribute to schizophrenia susceptibility in Pakistani population. Psy Invest. 14(5):687-692.
  27. Klar, J., Piontek, J., Milatz, S., Tariq, M., Jameel, M., Breiderhoff, T., Schuster, J., Fatima, A., Asif, M., Sher, M., Mäbert, K., Fromm, A., Baig, S. M., Günzel, D., Dahl, N. 2017. Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage. PLoS Genet. 7;13(7).
  28. Sukumaran, S. K., Stumpf, M., Salamon, S., Ahmad, I., Bhattacharya, K., Fischer, S., Müller, R., Altmüller, J., Budde, B., Thiele, H., Tariq, M., Malik, N. A., Nürnberg, P., Baig, S. M., Hussain, M. S., Noegel, A. 2016. CDK5RAP2 interaction with components of the Hippo signaling pathway may play a role in primary microcephaly. Mol Genet Genomics. 292(2):365-383.
  29. Anjum, S., Azhar, A., Tariq, M., Baig, S. M., Bolz, H. J., Qayyum, M., Naqvi, S. M. S., Raja, G. K. 2014. GJB2 gene mutations causing hearing loss in consanguineous Pakistani families. Pak J. Life Soc Sci. 12(3):126-131.
  30. Jameel, M., Klar, J., Tariq, M., Moawia, A., Malik, N. A., Waseem, S. S., Abdullah, U., Khan, T. N., Raininko, R., Baig, S. M., Dahl, N. 2014. A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical variability in AP-4 deficiency. BMC Med Genom. 15:133.
  31. Klar, J., Hisatsune, C., Baig, S. M., Tariq, M., Johansson, A. C. V., Rasool, M., Malik, N. A., Ameur, A., Sugiura, K., Feuk, L., Mikoshiba, K., Dahl, N. 2014. Abolished InsP3R2 function inhibits sweat secretion in both humans and mice. J. Clin Invest. 124(11):4773-4780.
  32. Schuster, J., Khan, T. N., Tariq, M., Arzoo, P., Mäbert, K., Baig, S. M., Klar, J. 2014. Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy. BMC Med Genom.15:71.
  33. Raykova, D., Klar, J., Azhar, A., Khan, T. N., Malik, N. A., Iqbal, M., Tariq, M., Baig, S. M., Dahl, N. 2014. Autosomal recessive transmission of a rare KRT74 variant causes hair and nail ectodermal dysplasia: allelism with dominant woolly hair/hypotrichosis. PLoS One. 9(4):e93607.
  34. Khan, T. N., Klar, J., Tariq, M., Malik, N. A., Baig, S. M., Dahl, N. 2014. Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation. Eur J. Hum Genet. 22:1180-1184.
  35. Hussain, M. S., Baig, S. M., Neumann, S., Peche, V. S., Nurnberg, G., Tariq, M., Jameel, M., Khan, T. N., Fatima, A., Malik, N. A., Ahmad, I., Altmuller, J., Frommolt, P., Thiele, H., Hohne, W., Yigit, G., Wollnik, B., Neubauer, B. A., Nurnberg, P. J., Noegel, A. A. 2013. CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly. Hum Mol Genet. 20;22(25):5199-5214.
  36. Khan, T. N., Klar, J., Nawaz, S., Jameel, M., Tariq, M., Malik, N, A., Baig, S. M., Dahl, N. 2012. Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I). BMC Med Genom.13;13:120.
  37. Tariq, M., Azhar, A., Baig, S. M., Dahl, N., Klar, J. 2012. A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair. Sci Rep. 2:730.
  38. Tariq, M., Azhar, A., Baig, S. M., Dahl, N., Klar, J. 2012. A novel mutation in Lysophosphatidic Acid Receptor 6 gene in autosomal recessive hypotrichosis and evidence for a founder effect. Eur J. Dermatol. 22(4):464-466.
  39. Baig, S. M., Sabih, D., Rahim, K., Azhar, A., Tariq, M., Hussain, M. S., Naqvi, S. M. S., Raja, G. K., Khan, T. N., Jameel, M., Iram, Z., Noor, S., Baig, U. R., Qureshi, J. A., Baig, S. A., Bakhtiar, S. M. 2012. β-Thalassemia in Pakistan: a pilot program on prenatal diagnosis in Multan. J. Pediatr Hematol Oncol. 34(2):90-92.                              
  40. Nawaz, S., Tariq, M., Ahmad, I., Baig, S. M., Dahl, N., Klar, J. 2012. Non-bullous congenital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12. Eur J. Dermatol. 22(2):178-181. 
  41. Nawaz, S., Tariq, M., Azhar, A., Rasool, M., Bakhtiar, S. M., Ahmad, I., Rehman, S. U., Jameel, M., Khan, T. N., Baig, S. A., Klar, J., Dahl, N., Baig, S. M. 2011. Report of a recurrent mutation in ARS (component B) gene with severe Mal de Meleda in a large consanguineous Pakistani family. Pak J. Med Sci. 27(3):686-689.
  42. Nawaz, S., Klar, J., Wajid, M., Aslam, M., Tariq, M., Schuster, J., Baig, S. M., Dahl, N. 2009. WNT10A missense mutation associated with a complete Odonto-Onycho-Dermal Dysplasia syndrome. Eur J. Hum Genet. 17:1600-1605.
  43. Rasool, M., Schuster, J., Aslam, M., Tariq, M., Ahmad, I., Ali, A., Entesarian, M., Dahl, N., Baig, S. M. 2008. A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia. J. Hum Genet. 53:894-898.
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