Human Genetics group:
Hereditary limb defects: We are conducting clinical and molecular studies on limb anomalies in order to understand their nature and to classify the types prevalent in our population. Molecular typing and classification would be helpful in genetic counseling and suggesting management and therapeutic alternatives.
Genetic epidemiology of congenital and hereditary defects: We intend to explore the spectrum of congenital anomalies in the Pakistani population. Community control and intervention of congenital anomalies is possible by understanding their distribution, prevalence and clinical and molecular bases in various ethnic and linguistic isolates of Pakistan. This research is also vital in estimating the genetic burden pertaining to these disorders on our society.
Community genetics and consanguinity: The unique socio-cultural setup of Pakistani society favours close and consanguineous marriages. We intend to examine the dynamics of consanguinity and inbreeding coefficient (F) in various populations of Pakistan, and also its impact on the prevalence of congenital anomalies.
We are open for collaborations on studies of common interest. If there is any idea, please discuss: firstname.lastname@example.org, email@example.com
Ahmed A, Wang M, Bergant G, Maroofian R, Zhao R, Alfadhel M, Nashabat M, AlRifai MT, Eyaid W, Alswaid A, Beetz C, Qin Y, Zhu T, Tian Q, Xia L, Wu H, Shen L, Dong S, Yang X, Liu C, Ma L, Zhang Q, Khan R, Shah AA, Guo J, Tang B, Leonardis L, Writzl K, Peterlin B, Guo H, Malik S, Xia K, Hu Z. Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy. Hum Genet. 2020. doi: 10.1007/s00439-020-02226-3.
Bölükbaşı EY, Shabbir RMK, Malik S, Tolun A. Homozygous deletion of MYADML2 in cranial asymmetry, reduced bone maturation, multiple dislocations, lumbar lordosis, and prominent clavicles. J Hum Genet DOI: 10.1038/s10038-020-0817-8.
Zahra Q, çakmak ç, Koprulu M, Shuaib M, Sobreira N, Kalsner L, Sobreira J, Guillen Sacoto MJ, Malik S, Tolun A. Biallelic ZNF407 mutations in a neurodevelopmental disorder with ID, short stature and variable microcephaly, hypotonia, ocular anomalies and facial dysmorphism. J Hum Genet 65(12):1115-1123, 2020.
Murtaza K, Saleem Z, Malik S. Talipes equinovarus or Clubfoot: A review of study approaches, management and trends in Pakistan. Pak J Med Sci 36(6):1414–1420, 2020.
Mumtaz S, Nalbant G, Yıldız Bölükbaşı E, Huma Z, Ahmad N, Tolun A, Malik S. Novel EDAR mutation in tooth agenesis and variable associated features. Eur J Med Genet 63(9):103926, 2020.
Khan R, Shabbir RMK, Raza I, Abdullah U, Naeem MA, Ahmed A, Malik S, Hu Z, Xia K. A founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds. Ophthalmic Genet 41(1):7-12, 2020.
Bhatti NA, Mumtaz S, Malik S. Epidemiological study of congenital and hereditary anomalies in Sialkot District of Pakistan revealed a high incidence of limb and neurological disorders. Asian Biomedicine 13(2):49-60, 2019.
Xu C, Yang X, Zhou H, Li Y, Xing C, Zhou T, Zhong D, Lian C, Yan M, Chen T, Liao Z, Gao B, Su D, Wang T, Sharma S, Mohan C, Ahituv N, Malik S, Li QZ, Su P. A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud. Genet Med 22:89, 2019.
Arshad M, Jalil I, Raza A, Malik S, Dasti JI. Novel Polymorphism in the Promoter Region of HLA-DQB1 Is a Predictor of Anti-HCV Therapy Response. Jundishapur J Microbiology 12(6):e92217, 2019.
Shabbir RMK, Nalbant G, Ahmad N, Malik S, Tolun A. Homozygous CHST11 mutation in chondrodysplasia, brachydactyly, overriding digits, clino-symphalangism and synpolydactyly. J Med Genet 55(7):489-496, 2018.
Pigors M, Common JEA, Wong XFCC, Malik S, Scott CA, Tabarra N, Liany H, Liu J, Limviphuvadh V, Maurer-Stroh S, Tang MBY, Lench N, Margolis DJ, van Heel DA, Mein CA, Novak N, Baurecht H, Weidinger S, McLean WHI, Irvine AD, O’Toole EA, Simpson MA, Kelsell DP. Exome sequencing and rare variant analysis reveals multiple filaggrin mutations in Bangladeshi families with atopic eczema and additional risk genes. J Invest Dermatol 38(12):2674-2677, 2018.
Yıldırım Y, Ouriachi T, Woehlbier U, Ouahioune W, Balkan M, Malik S, Tolun A. Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility. Eur J Hum Genet 26(6):876-885, 2018.
Yıldız Bölükbaşı E, Mumtaz S, Afzal M, Woehlbier U, Malik S, Tolun A. Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. J Med Genet 55(3):189-197, 2018.
Malik S. Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD): syndactyly type IX. Skeletal Radiol 47(2):149, 2018.
Tufail M, Rehman AU, Malik S. Determinants of consanguinity and inbreeding coefficient in the multiethnic population of Mardan, Khyber Pakhtunkhwa, Pakistan. Asian Biomedicine 11(6):451–60, 2017.
Afzal M, Zaman Q, Kornak U, Mundlos S, Malik S, Flöttmann R. Novel splice mutation in LRP4 causes severe type of Cenani-Lenz syndactyly syndrome with oro-facial and skeletal symptoms. Eur J Med Genet 60(8):421-425, 2017.
Mumtaz S, Yıldız E, Lal K, Tolun A, Malik S. Complex postaxial polydactyly types A and B with camptodactyly, hypoplastic third toe, zygodactyly and other digit anomalies caused by a novel GLI3 mutation. Eur J Med Genet 60(5):268-274, 2017.
Rehman AU, Ali S, Malik S. Analysis of genetic differentiation at ABO and Rh loci among the Pashtun populations inhabiting Lower Khyber Pakhtunkhwa, Pakistan. Pak J Zool 49(1):387-389, 2017.
Yıldız Bölükbaşı E, Afzal M, Mumtaz S, Ahmad N, Malik S, Tolun A. Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain. Am J Med Genet A 173(9):2494-2499, 2017.
Khattak NMK, Iltaf M, Rehman AU, Malik S, Zahid M. Prevalence, socio-demographic determinants and risk factors of toxoplasmosis: case-control study in a rural community of Mardan district, northern Pakistan. J Anim Plant Sci 27(2):617-626, 2017.
Zahra Q, Shuaib M, Malik S. Epidemiology of congenital anomalies in the Kurram Tribal Agency, northwest Pakistan. Asian Biomedicine 10(6):591-601, 2016.
Riaz HF, Lal K, Ullah S, Bhatti NA, Ullah W, Malik S. Phenotypic manifestation of congenital transverse amputation of autopod in Pakistani subjects. Pak J Med Sci 32(2):519-522, 2016.
Riaz HF, Mannan S, Malik S. Consanguinity and its socio-biological parameters in Rahim Yar Khan District, Southern Punjab, Pakistan. J Health Pop Nutrition 35:14, 2016.
Raza MU, Ullah W, Malik S. Congenital limb deficiency associated with intellectual disability: unusual presentation in two subjects. J Coll Physicians Surg Pak 26(9):784-6, 2016.
Jalil I, Arshad M, Rafaque Z, Raziq F, Wazir R, Malik S, Dasti JI. Seroprevalence of HDV among non-hospitalized HBsAg positive patients from KPK-region of Pakistan. Asian Pacific J Tropical Biomed 6(7):609-613, 2016
Ahmad I, Rehman AU, Malik S. Determinants of consanguinity and inbreeding coefficient f in Dir Lower district, north-west Pakistan: a multivariate approach. Iran J Public Health 45(4):537-539, 2016.
AlSuhaibani ES, Kizilbash NA, Malik S, Dasti JI, Al Beladi F, El-Morshedi N.Polymorphisms in promoter regions of IL-6 and IL-10 genes in breast cancer: a case-control study. Genet Mol Res 15(1):1-9, 2016.
Khan J, Rashid A, Khan K, Malik S, Rehman AU. Distribution of ABO and Rh(D) Allelic Polymorphisms North Waziristan Agency, (Federally Administered Tribal Areas), Pakistan. Anthropologist 23(3):423-428, 2016.
Rehman AU, Malik S. Evaluation of tribal diversity of Pashtuns of Bajaur Agency, North-West Pakistan, on the basis of allelic polymorphisms at ABO and Rh loci. Pak J Zool 48(3):697-702, 2016.
Ali I, Rafaque Z, Ahmed S, Malik S, Dasti JI. Prevalence of multi-drug resistant uropathogenic Escherichia coli in Potohar region of Pakistan. Asian Pacific J Trop Biomed 6(1):60-66, 2016.
Rehman AU, Ahmad I, Zaman M, Malik S. Transition in consanguinity in Dir Lower district, a victim of war, natural disaster and population displacement, in north-west Pakistan - a response to Sthanadar et al. (2015). J Biosoc Sci 48(3):421-6, 2016.
Ahmad B, Rehman AU, Malik S. Consanguinity and inbreeding coefficient in tribal Pashtuns inhabiting the turbulent and war-affected territory of Bajaur Agency, North-West Pakistan. J Biosoc Sci 48(1):113-28, 2016.
Mumtaz S, Riaz HF, Touseef M, Basit S, Faiyaz-Ul-Haque M, Malik S. Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population. Pak J Med Sci 31(6):1542-4, 2015.
Ullah S, Dasti JI, Malik S. Descriptive epidemiology of hereditary musculoskeletal and limb defects in the isolated population of Chitral, North-West Pakistan. Pak J Med Sci 31(5):1047-52, 2015.
AlSuhaibani ES, Kizilbash NA, Afshan K, Malik S. Distribution and clinal trends of the ABO and Rh genes in select Middle Eastern countries. Genet Mol Res 14(3):10729-10742, 2015.
Mumtaz S, Yıldız E, Jabeen S, Khan A, Tolun A, Malik S. RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly. Am J Med Genet 167(12):3148-52, 2015.
AlSuhaibani ES, Kizilbash NA, Malik S. Heterogeneity and diversity of ABO and Rh blood group genes in select Saudi Arabian populations. Genet Mol Res 14(3):7850-7863, 2015.
Lal K, Malik S. Epidemiological study of congenital limb defects in individuals or families from the interior Sindh region of Pakistan. Asian Biomedicine 9(3):325-334, 2015.
Fatima H, Malik S. Concomitant Congenital Trigger Thumb and Thumb Aplasia. J Col Phy Surg Pak 25(6):470-1, 2015.
Ali S, Malik S. Genetic heterogeneity and gene diversity at ABO and Rh blood group polymorphisms in seven Pashtun populations of Upper Khyber Pakhtunkhwa, Pakistan. Pak J Zool 47(3):649-656, 2015.
Malik S, Lal K, Fatima NG, Samo A, Haque S. Congenital constriction ring of limbs in subjects with history of maternal substance use. J Col Phy Surg Pak 25(5):383-385, 2015.
Jabeen N, Malik S. Prevalence and pattern of traumatic limb amputations in female population of Bhimber District, Azad Jammu and Kashmir, Pakistan. Pak J Med Sci 31(1):54-59, 2015.
Kanwal M, Alyas S, Afzal M, Mansoor A, Abbasi R, Tassone F, Malik S, Mazhar K. Molecular Diagnosis of Fragile X Syndrome in Subjects with Intellectual Disability of Unknown Origin: Implications of Its Prevalence in Regional Pakistan. PLoS One 10(4):e0122213, 2015.
Rehman AU, Rashid A, Malik S. Genetic diversity at ABO and Rh (D) loci in the tribal groups of Mohmand Agency (Federally Administered Tribal Areas), Pakistan. Anthropologist 19(3):679-683, 2015.
Hina S, Malik S. Pattern of consanguinity and inbreeding coefficient in Sargodha district, Punjab, Pakistan. J Biosoc Sci 47:803–811, 2015.
Malik S, Percin FE, Bornholdt D, Albrecht B, Percesepe A, Koch MC, Landi A, Fritz B, Khan R, Mumtaz S, Akarsu NA, Grzeschik KH. Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type. Am J Hum Genet 95(6): 649-59, 2014.
Lal K, Mumtaz S, Attiq-ur-Rehman, Bibi M, Pervin P, Malik S. Congenital hypoplasia of first digital ray of hands as an isolated presentation in four subjects. Pak J Med Sci 30(6):1428-1431, 2014.
Afzal M, Malik S. Longitudinal deficiency of upper limb: similar case presentation of two subjects with unilateral ulnar hemimelia, carpal and metacarpal deficiency, and severe oligodactyly. Asian Biomedicine 8(4): 569-575, 2014.
Din G, Malik S, Ali I, Ahmed S, Dasti JI. Prevalence of hepatitis C virus infection among thalassemia patients: a perspective from a multi-ethnic population of Pakistan. Asian Pac J Trop Med 7(Suppl 1): S127-S133, 2014.
Jabeen N, Malik S. Consanguinity and its sociodemographic differentials in Bhimber District, Azad Jammu and Kashmir, Pakistan. J Health Popul Nutr 32(2):301-313, 2014.
Riaz HF, Lal K, Ahmad B, Shuaib M, Naqvi SF, Malik S. Study of non-syndromic thumb aplasia in six independent cases. Pak J Med Sci 30(3):677-681, 2014.
Rehman A-U, Wahab Z-U, Khattak MNK, Malik S. ABO and Rh (D) blood groups polymorphism in four tehsils of Bajaur Agency (Federally Administered Tribal Areas), Pakistan. Anthropologist 18(1): 259-261, 2014.
Malik S, Ullah S, Afzal M, Lal K, Haque S. Clinical and descriptive genetic study of polydactyly: a Pakistani experience of 313 cases. Clin Genet 85(5):482–486, 2014.
Malik S. Polydactyly: phenotypes, genetics and classification. Clin Genet 85(3):203-12, 2014.
Jabeen N, Malik S. Prevalence of congenital anomalies and non-communicable diseases in women of age 12-75 years in District Bhimber, Azad Jammu and Kashmir, Pakistan. Iranian J Publ Health 43(1): 42-49, 2014.
Ali S, Malik S. Phenotypic distribution, allelic diversity and degree of differentiation at ABO and Rh loci in the population of Haripur District, Khyber Pakhtunkhwa, Pakistan. Pak J Zool 46(1):1-7, 2014.
Alenizi D, Kizilbash NA, Gill O, Abukanna A, Malik S, Badawy A. Correlation of SPECT imaging, biochemical parameters and mutation with systolic dysfunction. Genet Mol Res 12 (4): 5964-5977, 2013.
Malik S, Afzal M. Ulnar aplasia, dysplastic radius and preaxial oligodactyly: Rare longitudinal limb defect in a sporadic male child. J Res Med Sci 18(9):86-89, 2013.
Malik S, Amin-ud-Din M. Genetic heterogeneity and gene diversity at ABO and Rh loci in the human population of Southern Punjab, Pakistan. Pak J Zool 45(5):1185-1190, 2013.
Malik S, Afzal M. Congenital terminal transverse deformity of upper limb: clinical and radiological findings in a sporadic case. J Col Phy Surg Pak 23(3):219-220, 2013.
Malik S. Syndactyly: phenotypes, genetics and current classification. Eur J Hum Genet 20(8):817-24, 2012.
Malik S, Riaz HF. Terminal transverse deficiency of fingers, symbrachydactyly with anonychia of toes, and congenital scalp defect: Case report of a subject with Adams-Oliver syndrome. Pak J Med Sci 28(1):231-234, 2012.
VanderMeer JE, Afzal M, Alyas S, Haque S, Ahituv N, Malik S. A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly. Am J Med Genet 158A(8):2031-5, 2012.
Malik S, Jabeen N. Zygodactyly with thumb aplasia: an unusual variant in a male subject. J Col Phy Surg Pak 21(11):710-712, 2011.
Riaz HF, Malik S. Case report of a neonate with congenital transverse deficiency of hand. Pak J Med Sci 27(5):1177-1180, 2011.
Malik S, Afzal M, Gul S, Wahab A, Ahmad M. Autosomal dominant syndrome of camptodactyly, clinodactyly, syndactyly, and bifid toes. Am J Med Genet 152A:2313–2317, 2010.
Abbasi AA, Paparidis Z, Malik S, Bangs F, Schmidt A, Koch S, Lopez-Rios J, Grzeschik KH. Human intronic enhancers control distinct sub-domains of Gli3 expression during mouse CNS and limb development. BMC Dev Biol 10(1):44, 2010.
Malik S, Grzeschik K-H. Congenital, low penetrance lymphedema of lower limbs maps to chromosome 6q16.2-q22.1 in an inbred Pakistani family. Hum Genet 123:197–205, 2008.
Malik S, Schott J, Schiller J, Junge A, Baum E, Koch MC. Fifth finger camptodactyly maps to chromosome 3q11.2-q13.12 in a large German kindred. Eur J Hum Genet 16(2):265-269, 2008.
Malik S, Grzeschik K-H. Synpolydactyly: clinical and molecular advances. Clin Genet 73(2):113-120, 2008.
Malik S, Girisha KM, Wajid M, Roy AK, Phadke SR, Haque S, Ahmad W, Koch MC, Grzeschik KH. Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences. BMC Med Genet 8(1):78, 2007.
Paparidis Z, Abbasi AA, Malik S, Goode DK, Callaway H, Elgar G, deGraaff E, Lopez-Rios J, Zeller R, Grzeschik K-H. An ultraconserved non-coding sequence element controls a subset of spatiotemporal GLI3 expression. Dev Growth Diff 49(6):543-553, 2007.
Abbasi AA, Paparidis Z, Malik S, Goode D, Callaway H, Elgar G, Grzeschik K-H. Intragenic conserved non-coding elements from human GLI3 are cell- and tissue-specific enhancers. PloS ONE 2:e366, 2007.
Malik S, Abbasi A, Ansar M, Ahmad W, Koch M, Grzeschik KH. Genetic heterogeneity of synpolydactyly: a novel locus SPD3 maps to chromosome 14q11.2-q12. Clin Genet 69(6):518-524, 2006.
Malik S, Schott J, Ali SW, Oeffner F, Amin-ud-Din M, Ahmad W, Grzeschik K-H, Koch MC. Evidence for clinical and genetic heterogeneity of syndactyly type I: the phenotype of second and third toe syndactyly maps to chromosome 3p21.31. Eur J Hum Genet 13(12):1268-1274, 2005.
Malik S, Ahmad W, Grzeschik K-H, Koch MC. A simple method for characterising syndactyly in clinical practice. Genet Couns 16(3):229-238, 2005.
Malik S, Percin FE, Ahmad W, Percin S, Akarsu NA, Koch MC, Grzeschik K-H. Autosomal recessive mesoaxial synostotic syndactyly with phalangeal reduction maps to chromosome 17p13.3. Am J Med Genet 134(4):404-408, 2005.
Rafiq MA, Faiyaz-Ul-Haque M, Ud Din MA, Malik S, Sohail M, Anwar M, Haque S, Paterson AD, Tsui LC, Ahmad W. A novel locus of ectodermal dysplasia maps to chromosome 10q24.32-q25.1. J Invest Dermatol 124(2):338-342, 2005.
Malik S, Arshad M, Amin-Ud-Din M, Oeffner F, Dempfle A, Haque S, Koch MC, Ahmad W, Grzeschik K-H. A novel type of autosomal recessive syndactyly: clinical and molecular studies in a family of Pakistani origin. Am J Med Genet 126(1):61-67, 2004.
Salhi A, Bornholdt D, Oeffner F, Malik S, Heid E, Happle R, Grzeschik KH. Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene. Cancer Res 64(15):5113-5117, 2004.
Amin-ud-Din M, Fazeli N, Rafiq MA, Malik S. Serological study among the municipal employees of Tehran, Iran: distribution of ABO and Rh blood groups. Haema 7(4):502-504, 2004.
Rafique MA, Ansar M, Jamal SM, Malik S, Sohail M, Faiyaz-Ul-Haque M, Haque S, Leal SM, Ahmad W. A locus for hereditary hypotrichosis localized to human chromosome 18q21.1. Eur J Hum Genet 11(8):623-628, 2003.
PROFESSIONAL TRAINING – Courses and Certifications
Symposiums and seminars – attended
Conference/ Workshop/ Symposium organized
ABSTRACTS - PROCEEDINGS in Scientific Conferences
2016-19. Mapping physical disabilities in the human population of KPK province, Pakistan. Higher Education Commission, Pakistan.
2016-19. Consanguinity and its health consequences among the metropolis in Pakistan: a comparative analysis of Rawalpindi/Islamabad and Lahore populations. Higher Education Commission, Pakistan.
2013. Study of hereditary limb anomalies in the Pakistani population. University Research Fund, QAU Islamabad
2012-13. Phenotypic diversity and genetic differentiation of blood group genes in North-Western populations of Pakistan. Higher Education Commission Islamabad
2012-13: Investigations of cardiac ischemia by CT imaging and its correlation with hereditary polymorphisms. Ministry of Higher Education, Saudi Arabia.
2012. Genetic epidemiology of congenital and hereditary anomalies in consecutive live-births at Pakistan Institute of Medical Sciences, Islamabad. University Research Fund, QAU Islamabad
2011-12. Genetics lab up gradation under the Institutional Support Program. Pakistan Science Foundation (PSF), Islamabad
2011. Study of congenital and hereditary anomalies in District DG Khan. University Research Fund, QAU Islamabad
2010-12. Genetic epidemiological studies of hereditary skeletal disorders in Punjab. Higher Education Commission, Islamabad.
2010. Study of consanguinity and morbidity in District Muzaffargarh, Punjab. University Research Fund, QAU Islamabad
2009. Study of consanguinity in Districts Multan and Layyeh, Southern Punjab. University Research Fund, QAU Islamabad
2006. Regulation of GLI genes expression. Sponsored by P.E. Kempkes Foundation, Marburg Germany.