Association Between Single Nucleotide Polymorphisms and Asthma Risk: A Population-Based Study in Pakistan. 2018. Faryal, S., Chopra, A., Muhammad, F., Sher, M., Ali, Z., Bokhari, H., Abdullah, U., Moller, R., Tommerup, N., Baig, S.M. Journal of Asthma. LJAS-2018-0171 (Under review)

A novel inframe Mutation in CLN3 Leads to Juvenile Neuronal Ceroid
Lipofuscinosis in large Pakistani family. 2018. Sher, M., Muhammad, F., Abdullah, U., Ali, Z., Faryal, S., Ullah, F., Bukhari, H., Møller, R., Tommerup, N., Baig, S.M. EJMG 2018-326 (Under review)

A novel mutation in GPR56 gene causing autosomal recessive bilateral frontoparietal Pachygyria in a Pakistani Consanguineous family. 2018. Zulfiqar, S., Aliz, Z., Abdullah, U., Fatima, A., Baig, S.M. EJMG, 2018-307 (Under eview).

A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features. 2018. Kellaris, G., Khan, K., Shahid M. Baig, S.M., Tsai, I., Zamora, F.M., Ruggieri, P., Natowicz, M.R., Katsanis, N. Human Genomics Mar 1;12(1):11. doi: 10.1186/s40246-018-0141-y.

Epigenetic relation of HIV-1 latency: focus on polycomb group (PcG) proteins. 2018. Khan, S., Iqbal, M., Tariq, M., Baig, S.M., Abbas, W. Clinical Epigenetics, DOI: 10.1186/s13148-018-0441-z.

Mutations in genes encoding five interacting components of the
nuclear pore complex cause nephrotic syndrome and/or microcephaly. 2018. Braun, D.A., Lovric, S., Schapiro, D., Schneider, R.,
Marquez, J., Asif, M., Hussain, M.S., Ashraf. S., Abubakar Moawia, A., Ishaq. A., Altmueller, J.,Noegel, A.A., Waseem, S.S.,Khan, A., Antonin, W., Baig, S.M., Alkuraya, F.S.,  Peter Nürnberg, P., Khokha, M., & Hildebrandt, F. et al. Manuscript No. 98688-JCI-RG-RVII. Accepted : Journal of Clinical investigations (In press).

Mutations in the condensin II component NCAPG2 cause an autosomal recessive neurodevelopmental syndrome. 2018. Tahir N. Khan, T.N., Khan, K., Sadeghpour, A., Reynolds, H., Perilla, Y., Marie, M.T., Gallentine,  W.B., Baig, S.M., Task Force for Neonatal Genomics, Davis,   E.E., Katsanis, N. AJHG (Under Review).

A novel mutation in RDH5 gene causes retinitis pigmentosa in consanguineous Pakistani family. 2018. Neelam Sultan, N., Ali, I., Bukhari, S.A., Baig, S.M., Muhammad Asif, M., Qasim, M.,  Naseer, M.I., Rasool, M. Genes and Genomes, Genes & Genomics https://doi.org/10.1007/s13258-018-0657-5

Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features. 2017. Ali, Z., Zulfiqar,S., Ullah, F., Khan, A., Abdullah, U., Baig, S.M., Klar, J., Wikström, J., Dahl, N. BMC Medical Genetics, 18:144 DOI 10.1186/s12881-017-0504-6.

Mutations of KIF14 Cause Primary Microcephaly by Impairing Cytokinesis. 2017.  Moawia, A., Ranad, S.,Waseem, S.S., Nour, E., Birgit, B., Amit, K., Susanne, M., ; Khan, K., Fatima, A., Jameel, M., Ullah, F., Akram, T., Ali, Z., Abdullah, U., Höhne, W., Noegel, A., Al-Owain, M., Hörtnagel, K., Stöbe, P., Baig, S.M., Nürnberg, P., Alkuraya, F., Hahn, A., Hussain, M.S. Annals of Neurology, 82(4):562-577.

Altered Paracellular Cation Permeability Due to a Rare CLDN10B Variant Causes Anhidrosis and Kidney Damage. 2017.  Klar, J., Piontek, J., Milatz, S., Tariq, M., Jameel, M., Breiderhoff, T., Jens Schuster, J., Fatima, A, Asif, M., Sher, M., Mäbert, K., Fromm, A., Baig, S.M., Günzel, D., Dahl, N.^. Plosgenetics.  13(7)e1006897 Published July 2017.

Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia. 2017. Tariq, M., Khan, T.N., Lundin, L., Jameel, M., Lonnerholm, C., Baig, S.M., Dahl. N., Klar, J. Clinical Genetics, 93(1): 182-186. DOI: 10.1111/cge.13091

Abdullah, U., Farooq, M., Mang, Y., Bakhtiar, S.M., Fatima, A., Hansen, L., Kjaer, K.W., Larsen, L.A., Tommerup, N., Baig, S.M. 2017. A novel mutation in CDK5RAP2 gene causes primary microcephaly with speech impairment and sparse eyebrows in a consanguineous Pakistani family._. European Journal of Medical Genetics, 60(12): 627-630. doi.org/10.1016/j.ejmg.2017.07.2017.

Abdullah, U., Farooq, M., Fatima, A., Tauseef, W., Sarwar, Y., Nuri, MMH.  Tommerup, N., Baig, S.M. 2017. Homozygous Mutation in the NPHP3 gene causing Foetal Nephronophthisis. Nephrology, 22(10): 818-820.

Neuhaus, C., Eisenberger, T., Decker, C., Nagl, S., Blank, C., Pfister, M., Kennerknecht, I., Müller-Hofstedde, C., Charbel Issa, P., Heller, R., Beck, B., Rüther, K., Mitter, D., Rohrschneider, K., Steinhauer, U., Korbmacher, H., Huhle, D., Elsayed, S., Baig, S.M., Stöhr, H., Preising, M., Markus, S., Möller, F., Lorenz, B., Nagel-Wolfrum, K., Khan, A., Bolz, H.J. NGS reveals the mutational landscape of clinically diagnosed Usher syndrome: CNVs, phenocopies, a predominant target for translational read-through and mutated in Heimler syndrome. 2017. Molecular Genetics & Genomic Medicine, 5(5): 531-552.

Klar, J., Ali, Z., Farooq, M., Khan, K., Wikström, J., Iqbal, M., Zulfiqar, S.,Faryal, S., Baig, S,M., and Dahl, N. A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers. 2017. European Journal of Human Genetics, 25(7): 848-843. doi: 10.1038/ejhg.2017.54

Ahmad I, Baig SM, Abdulkareem AR, Hussain MS, Sur I, Toliat MR, Nürnberg G, Dalibor N, Moawia A, Waseem SS, Asif M, Nagra H, Sher M, Ali Khan MM, Hassan I, Ur Rehman S, Thiele H, Altmüller J, Noegel AA, Nürnberg P. 2017. Genetic heterogeneity in Pakistani microcephaly families revisited. Clinical Genetics, 92(1): 62-68.

Ali, Z., Khan, K., Jameel, M., Fatima, A., Klar, J., Raininko, R., Baig, S.M., Dahl, N. 2016. Novel SACS mutations associated with intellectual disability, epilepsy and widespread supratentorial abnormalities. Journal of Neurological Sciences, 371: 105-111.

Sukumaran, S.K., Stumpf, M., Sarah Salamon, S., Ilyas Ahmad, I., Kurchi Bhattacharya, K., Fischer, S., Müller, R., Altmüller, J., Budde, B., Thiele, H., Tariq, M., Malik, N.A., Nürnberg, P., Baig, S.M., Muhammad Sajid Hussain, M.S. Angelika Noegel, A. 2016. CDK5RAP2 interaction with components of the Hippo signaling pathway and its potential impact on primary microcephaly. Molecular Genetics and Genomics, 292(2):365-383.

Fatima, A., Farooq, M., Abdullah, U., Tariq, M., Mustafa, T., Iqbal, M., Tommerup, N., Baig, S.M. 2016. Genome-wide supported risk variants in MIR137, CACNA1C, CSMD1, DRD2 and GRM3 contribute to schizophrenia susceptibility in Pakistani population. Psychiatry Investigations, 14(5): 687-692.

Møllera, R.S., Line H.G., Larsend K. M., Talvikm, J.I., Talvikn, T., Vahern, U., Mirandae, M.J., Farooq, M., Jens E.K. Nielsenf Lene Lavard Svendseng Ditte B. Kjelgaarda Karen M. Linneth Qin Haod Peter Uldalla Mimoza Franguj., Tommerup, N., Baig, S.M., Abdullah, U., Alfred P. Bornk Pia Gellerta Marina Nikanorovaa,  Kern Olofssona Birgit Jepsena Dragan Marjanovica Lana I.K. Al-Zehhawii Sofia J. Peñalvaq Bente Krag-Olsenh Klaus Brusgaardd Helle Hjalgrima, Guido Rubbolib Deb K. Palr Hans A. Dahl. 2016. Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. Mol Syndomology, 7(4):210-219.

Szczepanski, S., Hussain, M.S., Altmüller, J., Thiele H., Abdullah, U., Moawia, A., Waseem, S.S., Nürnberg, G., Angelika Anna Noegel, A.A., Baig, S.M.  and Nürnberg, P. 2016. A Novel homozygous spice site mutation of CASC5 causes primary microcephaly in a large Pakistani family. Hum Genet. 2016 Feb;135(2):157-70.   

Moawia, A., Waseem, S.S., Budde, B., Noegel, A.A., Nurnberg, P., Hahn, A., Baig, S.M., Hussain, M.S. 2017.Mutations in KIF14, Encoding Kinesin-Like Protein KIF14, Cause Primary and Syndromic Microcephaly. Neuropediatrics, 20 48(S 01):S1-S45· DOI: 10.1055/s-0037-1602886.

Nawaz, H., Rashid, N., Muhammad, S., Amin, I., Iqbal, M., Rahman, M., Ibrahim, O., Baig, SM., Ahmad, M., Bonnier, F., Byrne, H. 2016. Prediction of viral loads for diagnosis of Hepatitis C infection in human plasma samples using Raman spectroscopy coupled with Partial Least Squares Regression analysis." Journal of Raman Spectroscopy, 48(5): 697-704.

Jabeen, S., Raja, M.S., Saeed, S., Zafar, M.M., Rizwana Abdul Ghani, R.A., Mahmood, A., Fiaz, M., Shiaq, P.A., Baig, S.M., Naqvi, S.M.S., Raja, G.K. 2016. Factors Influencing Vulnerability Towards Heroin Addiction in a Pakistani Cohort. PJZ, 49(1):95-99.

Klar, J., Schuster, J., Khan, T.N., Jameel, M., Maebert, K., Forsberg, L., Baig, S.A., Baig, S.M., Dahl, N. 2015.Whole exome sequencing identifies LRP1 as a pathogenic gene in autosomal recessive keratosis pilaris atrophicans. J Med Genet., 52(9):599-606.  

Zain M, Awan FR, Amir S, Baig SM. 2015. A case control association study of COMT gene polymorphism (I/D) with type 2 diabetes and its related factors in Pakistani Punjabi population.

J Diabetes Metab Disord. 2015 May 6;14:40. doi: 10.1186/s40200-015-0166-x. eCollection 2015.

Farooq, M., Fatima, A., Mang, Y., Hansen, L., Kjaer, KW., Baig, SM., Larsen, LA., Tommerup, N. 2016. A Novel Splice Site Mutation in CEP135 is Associated with Primary Microcephaly in a Pakistani Family. J Hum Genet. 2016 Mar;61(3):271-3. doi: 10.1038/jhg.2015.138. Epub 2015 Dec 10.

Jameel. M., Klar, J., Tariq, M., Moawia, A., Waseem, S.S., Abdullah, U., Malik, N.A., Khan, T.N., Khan., Reninko, 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 Medical Genetics Dec 14;15(1):133. doi: 10.1186/s12881-014-0133-2.

Martin, C.A., Ahmad, I., Klingseisen, A., Hussain, M.S., Bicknell, L., Leitch, A., Nürnberg, G., Toliat, M., Murray, J., Hunt, D., Khan, F., Ali, Z., Tinschert, S., Ding, J., Cormier-Daire, V., Dollfus, H., Dupuis, L., McElreavey, K., Kariminejad, A., Mendoza-Londono, R., Moore, A., Saggar, A., Schlechter, C., Thiele, H., Altmueller, J., Höhne, W., Weleber, R., Hurles, M., Noegel, A., Baig, S.M., Nuernberg, P., Jackson, A. 2014. Mutations in PLK4, a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinal dystrophy. Nat Genet. 46(12): 1283-1292.

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 insP(3)R2 function inhibit sweat secretion in both humans and mice. J Clin Invest. 124(11): 4773-4780.

Khan, M.A., Rupp, V.A., Orpinell, M., Hussain, M.S., Altmuller, J., Michel O. Steinmetz, M.O., Enzinger, C., Thiele, H., Hohne, W., Nurnberg, G., Baig, S.M., Ansar, M., Peter Nurnberg, P., Vincent, J.B., Speicher, M.R., Gonczy, P., Christian Windpassinger, C. 2014. A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly. Hum Mol Genet. 2014, 32(22):5940-9 Jun 20. pii: ddu318. [Epub ahead of print].

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 Genet. 2014 Jun 24;15(1):71. [Epub ahead of print]. Impact Factor: 2.536

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 1 Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis. PlosOne 2014 Apr 8;9(4):e93607. doi: 10.1371/journal.pone.0093607. eCollection 2014.

Eisenberger, T., Di Donato, N., Baig, S.M., Neuhaus, C., Decker, E., Mürbe, D., Decker, C., Carsten Bergmann, C., Bolz, H.J. 2014. Targeted and genomewide NGS data largely disqualify mutations in MYO1A, the "DFNA48gene",as a cause of deafness. Human Mutation doi: 10.1002/humu.22532.

Islam M, Awan FR, and Baig SM. 2014. Development of ARMS-PCR assay for genotyping of Pro12Ala SNP of PPARG gene: A cost effective way for case-control studies of type 2 diabetes in developing countries. Mol Biol Rep41(9):5585-5591.

Bakhtiar, S.M., Ali, A., Baig, SM., Barh, D., Miyoshi, A., Azevedo, V. 2014.Identifying human disease genes: advances in molecular genetics and computational Approaches. Genet. Mol. Res. 13 (3): 5073-5087.

Lohan, S., Spielmann, M., Doelken, S.C., Flottmann, R., Muhammad, F., Baig, S.M., Wajid, M., Hulsemann, W., Habenicht, R., Kjaer, K.W., Patil, S.J., Girisha, K.M., Barriga, A., Mundlos, S., Klopocki, E. 2014. Microduplication encompassing the Sonic Hedgehog Limb Enhancer ZRS are Associated with Hass Type Polysyndactyly and laurin-Sandrow Syndrome. Clin Genet 86(4):318-325. Impact Factor: 4.05

 Khan, T.N., Klar, J., Tariq, M., Malik, N.A., Yousaf, R., Baig, S.A., Baig, S.M., and Niklas Dahl. 2014. Evidence for autosomal recessive inheritance in SPG3A caused by homozygosity for a novel ATL1 missense mutation. EJHG 22(10):1180-1184. Impact Factor: 4.319

Elisenberger, T., Neuhaus, C., Khan, O.A., Baig, S.M. et al. 2014. Increasing the yield in targeted Next-Generation Sequencing by implementing CNV analysis, non-coding exons and the overall variant load: The example of Retinal Dystrophies. PLOS ONE, 8(11):e78496.

Hussain, M.S., Baig, S.M., Neumann, S., Peche, V.S., Nürnberg, G., Tariq, M., Jameel, M., Naeem, T., Fatima, A., Malik, N.A., Ahmad, I., Altmüller, J., Frommolt, P., Thiele, H., Höhne, W., Yigit, G., Wollnik, B., Nürnberg, P., Noegel, A.A. 2013. CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly. HMG, 22(25):5199-5214, doi: 10.1093/hmg/ddt374.

Zain, M., Awan, F.R., Cooper, J.A., Li, K.W., Palmen, J., Acharya, J., Howard, P., Baig, S.M., Elkeles, R.S., Stephens, J.W., Ireland, H. and Humphries. S.E. 2014. Association of TLL1 Gene Polymorphism (rs1503298, T > C) with Coronary Heart Disease in PREDICT, UDACS and ED Cohorts. JCPSP Sep;24(9):615-9.

Najam, S.S., Awan, F.R., Baig, S.M. 2014. Serum Adiponectin Levels in Diabetes, Obesity and Gender in Punjabi Subjects from Faisalabad, Pakistan. JPMA 64(10: 1186-1188.

Farooq, M., Nakai, H., Fujimoto, A., Fujikawa, H., Kjaer, K.W., Baig, S.M., Shimomura, Y. 2013. Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family. Hum Genet, 132(11):1253-1264.

Hussain, M.S., Bakhtiar, S.M. Noegel, Farooq, M., Anjum. I., Noegel, A.A., Nürnberg, P. Tommerup, N., Kjaer, K.W., Baig, S.M., Hansen, L. 2013. Genetic heterogeneity in Pakistani microcephaly families. Clin Genet. 83(5), 446-451.

Mansuy-Aubert, V., Zhou, Q.L., Xie, X., Gong, Z., Huang, J.Y., Khan, A.R., Aubert, G., Candelaria, K., Thomas, S., Shin, D.J., Booth, S., Baig, S.M., Bilal, A., Hwang, D., Zhang, H., Lovell-Badge, R., Smith, S.R., Awan, F.R.  and Jiang, Z.Y. 2013. Imbalance between Neutrophil Elastase and Its Inhibitor a1-Antitrypsin Alters Inflammation, Insulin Sensitivity and Energy Expenditure in Obesity. Cell Metabolism, 17:534-548.

Hansen, L., Rehman, SU., Tawamie, H., Murakami, Y., Buchert, R., Schaffer, S., Muhammad, S., Nöthen, M.M., Maeda, Y., Wang, Y., Aigner, M., Reis, A., Kinoshita, T., Tommerup, N., Baig, S.M., Jamra, R.A. (2013). Hypomorphic mutations in the GPI-anchor remodeling gene PGAP2 cause autosomal recessive intellectual disability with elevated alkaline phosphatase. AJHG, 92(4):575-583

Cui, C.Y., Klar, J., Frojmark, A.S., Baig, S.M., Dahl, N. 2013. Frizzled6 deficiency disrupts the differentiation process of nail development. J Invest Dermatol. 133(8):1990-1997.

Khan, T.N., Klar, J., Ali, Z., Khan, F., Baig, S.M. and Dahl N. 2013. Cenani-Lenz syndrome restricted to limb and kidney anomalies associated with a novel LRP4 missense mutation. Eur J Med Genet. 56(7):371-374.  

Iqbal, Z. Aleem, A. Baig S.M. et al. 2013. Sensitive detection of pre-existing BCR-ABL kinase domain mutations in CD34+ cells of newly diagnosed chronic-phase chronic myeloid leukaemia patients is associated with imatinib resistance: implications in the post imatinib era.  PLoS One. 2013;8(2):e55717. doi:10.1371/journal.pone. Epub ahead of print Feb 8.

Khan, T.N., Klar, J., Nawaz, S., Jameel, M., Tariq, M., Malik, N.A., Baig, S.M. and Dahl N. 2012. Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for polymorphic initiation codon (p.M11). BMC Medical Genetics, Dec 13 doi:10.1186/147-2350-13-120.

 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. Scientific Reports, 2:730. Oct 12, doi: 10.1038/srep00730.

Azhar, A., Tariq, M., 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. 

Baig, S.M., Sabih, D., Rahim, K., Azhar, A., Tariq, M., Hussain, M.S., Baig, UR., Qureshi, J.A., Baig, SA., Bakhtiar, S. M. 2012. β-Thalsssemia in Pakistan: a pilot program on prenatal diagnosis in Multan. J Pediatr Hematol Oncol 34(2):90-92.

Nawaz, S., Tariq, M., Ahmad, I., Malik, N.A., Baig, S.M., Dahl, N., Klar, J. 2012. Nonbullous congenital erythrodeerma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12. Eur J Dermatol 22(2):178-181.   

Hussain, M.S., Baig, S.M., Sascha Neumann, S., Nürnberg, G., Farooq, M., Ahmad, I.,   Alef, T., Hennies, H.C., Technau, M., Altmüller, J., Frommolt, P., Thiele, H., Noegel, A.A., Nürnberg, P. 2012. A Truncating Mutation of CEP135 is Associated with Primary Microcephaly and Disturbed Centrosomal Function. AJHG 90, 90(5):871-878.

21.   Baig, S.M., Alexandra Koschak, Andreas Lieb, Mathias Gebhart, Claudia Dafinger, Gudrun Nurnberg, , Amjad Ali, Ilyas Ahmad, Martina, J, Sinnegger-Brauns, Niels Brandt, Jutta Engel, Matteo E. Mangoni, Muhammad Farooq, Habib U. Khan, Peter Nurnberg, Jörg Striessnig, Hanno J. Bolz. 2011. Ca_v1.3 (CACNA1D), loss of function causes a novel human channelopathy with bradycardia and congenital deafness. Nat Neurosc 14(1):77-84.  

Frojmark, A.S., Schuster, J., Entesarian, M., Sobol, M., Gabrikova, D., Nawaz, S, Baig, S.M., Klar J., Dahl, N. 2011. Mutations in Frizzled 6 cause isolated autosomal recessive nail dysplasia. AJHG 88(6): 852-860.

Rehman, U.S, Baig, S.M., Eiberg, H., Ahmad, I, Malik, N.A., Tommerup, N., Hansen, L. 2011. Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus at 11p15-tel. Neurogenetics, 2011, 12(3):247-51. 

Lieb, A., Baig, SM., Gebhart, M., Dafinger, C., Engel, J., Mangoni, ME., Khan, HU., Nurnberg, P., Bolz, HJ. 2011.

Biophysical Properties of a Human Disease-Causing Mutation in Ca(V)1.3 L-Type Calcium Channels. Biophysical Journal, 100(3): 570-570. S1

Nawaz, S., Tariq, M., Aysha, A., Mahmood, R., Ahmad, I., 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. PJMS, 27(3): 686-689.

Iqbal, Z., Iqbal, M., Akhtar, T., Naqvi, M.I., Tahir, A.H., Gill, T.J., Abbas, M.N., Jamil, A., Taj, A.S., Abd-Al-Qayyum, Ur-Rehman, N., Ferhan, M., Shah, I.H., Khalid, M., Qin, W.X., Khalid, A.M., Khan, M., Aleem, A., Baig, S.M. 2010. Presence of Prior-to-Treatment BCR-ABL Mutations In CD34+CD38-Stem Cells of Newly Diagnosed Chronic Phase CML Patients and Their Correlation with Imatinib Resistance: Implications of Cancer Pharmacogenomics and Pre-Therapeutic Genetic Testing In Personalized Treatment of BCR-ABL plus Leukemia. Blood, 116 (21): 937-938.  

 Farooq, M., Troelsen, J.T., Boyd, M., Hansen, L., Eiberg, H., Hussain, M.S., Rehman, U.R., Azhar, A., Ali, A., Bakhtiar, SM., Tommerup, N., Baig, SM. Klaus, W.K. 2010. Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor binding affinity in a family with a novel point mutation in the long range cis-regulatory element ZRS. Eur J Hum Genet. 18:733-736.

Farooq, M., Baig, SM., Tommerup, N., Klaus, W.K. 2010. Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities (MIM 218455) is caused by truncating MCPH1 mutation and is allelic to PCC and Primary Microcephaly type 1. Am J Med Genet Part A. 152A:495-497.

Anjum, I., Eiberg, H., Baig, S.M., Tommerup, N., Hansen, L. 2010. A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family. Mol Vis, 16:549-555.

Rasool, R., Nawaz, S., Azhar, A., Wajid, M., Baig, S.M., Klar, J., Dahl, N. 2010. Autosomal recessive pure hair and nail ectodermal dysplasia linked to chromosome 12p11.1-q14.3 without KRTHB5 gene mutation. EJD 20(4):443-446.

Ben, SM., Aifa, HM., Mansour, KM., Baig, SM., et al. 2010. High frequecny of the p.R34X in the TMC1 gene associated with non-syndromic hearing loss is due to founder effects. GTMB 14(3):307-311.

Koschak, A., Baig, S. M., Gebhart, M., Dafinger, C., Nuernberg, G., Brandt, N., Engel, J., Ali, A., Ahmad, I., Sinnegger-Brauns, M. J., Mangoni, M. E., Farooq, M., Khan, H. U., Nuernberg, P., Bolz, H. J., Striessnig, J. 2010. Gating properties of a human disease-causing mutation in Ca(v)1.3 L-type calcium channels. Society for Neuroscience, Volume: 40.

Baig, S.M., Azhar, A., Hassan, H., Baig, J. M. Qureshi, J. A. et al. 2006. Spectrum of β-thalassemia mutations in various regions of Punjab and Islamabad, Pakistan: establishment of prenatal diagnosis. Haematologica (Hematol Hematol J), 91(3):13-15.

Baig, S.M. 2009. State of the genetic disorders in the Pakistani population. Genet Epidemiol, 33(8): 819-819.

Nawaz, S., Schuster, J. Wajid, M., Aslam., M. Tariq, M., Entesarian, M., Dahl, N. and Baig, S.M. 2009. WNT10A missense mutation causes a complete Odonto-onycho-dermal dysplasia (OODD). Eur J Hum Genet, 17(12):1600-1605.  

Farooq, M., Baig, SM. Aslam., M., Wajid, M., Hussain, M.S., Rasool, M., Qureshi, J.A., Hansen, L., Eiberg, H., Tommerup, N., Klaus, W.K. 2009. Compound heterozygosity in Pakistani MCPH families. Am J Med Genet Part A. 149A:926-930.

Rasool, M., Schuster, J., Aslam, M., Tariq, M., Ahmad, I., Ali. A., Entesarian, M., Dahl, N. and Baig, S.M. 2008. A novel missense mutation in the EDA gene associated with X-linked recessive isolated hypodontia. J Hum Genet, 53(10):894-8.

Baig, S.M., Din, M.A., Hassan, H., Baig, J. M., Azhar, A., Aslam, M., Farooq, M., Hussain, M.S., Rasool, M., Anjum, I, Nawaz, S., Qureshi, J. A. Zaman, T. 2008. Prevention of β-thalassemia in a large Pakistani family through cascade testing. Community Genet,11:68-70. 

Iqbal, Z., Li-Juan, Z., Baig, S. M. 2008. First comprehensive study on pre-existing BCR-ABL KD mutations and subsequent imatinib resistance in CML patients. Value of pre-treatment genetic testing and implication inpatient-tailored therapy of leukemia. Annals of Oncology, 19:40-41.

Iqbal, Z., Li-Juan, Z., Baig, S. M. 2008. First comprehensive study on pre-existing BCR-ABL KD mutations and subsequent imatinib resistance in CML patients. Value of pre-treatment genetic testing and implication inpatient-tailored therapy of leukemia. Annals of Oncology, 19:40-41.

Baig, S.M., 2007. Molecular diagnosis of β-thalassemia by Multiplex ARMS-PCR : A cost effective method for the developing countries. Prenat Diagn, 27(26): 280-281.   

Baig, S.M., Azhar, A., Hassan, H., Baig, J.M., Aslam, M., Din, M.A, Qureshi, J.A. and Zaman, T. 2006b. Prenatal diagnosis of β-thalassemia in Southern Punjab, Pakistan. Prenat Diagn, 26:903-905.

Baig, S.M., Azhar, A., Hassan, H., Baig, J. M. Qureshi, J. A. et al. 2006. Spectrum of β-thalassemia mutations in various regions of Punjab and Islamabad, Pakistan: establishment of prenatal diagnosis. Haematologica (Hematol Hematol J), 91(3):13-15.

Tadmouri, G.O., Tuzmen, S., Ozcelik, H., Ozer, A., Baig, S.M., Senga, E.B. and Basak, A.N. 1998. Molecular and population genetic analysis of beta-thalassemia in Turkey. Am. J. Hematol., 57(3):215-220.

Iqbal, Z., Baig, S. M. 2006. Optimization of simple PCR assay for detection of globin gene deletions in alpha thalassemia. Haematologica, 91(supplement 3):136.

Tuzmen, S., Tadmouri, G.O., Ozer, A., Baig, S.M., Ozcelik, H., Basaran, S. and Basak, A.N. 1996. Prenatal diagnosis of beta-thalassemia and sickle cell anemia in Turkey. Prenat Diagn, 16(3): 252-258.

Mahmood, A., Anwar, M., Ullah, N., Baig, S.M., and Wright, R.W. Jr. 1991. Pattern of sex steroids secretion and their relationship with embryo yield in Jersey cows superovulated with PMSG. Theriogenology, 35:513-520.

54.   Mahmood, S., Khurshid, S., Afzal, M.A., Naqvi, S.M.S., Baig, S.M. and Arslan, M. 1986. Changes in circulating levels of immunoreactive Follicle stimulating hormone, Luteinizing hormone and Testosterone during sexual development in the Rhesus monkey, macaca mulatta. Journal of Medical Primatology, 15:351-359.

55.   Baig, S.M., Anjum, S., Khan, S., Khanum, A., Qazi. M.H. and Haider, M.Z. 1992. Carcinoembryonic antigen (CEA) and beta human chorionic gonadotropin (b-hCG) as markers in breast cancer. Pakistan Journal of Zoology, 24(1): 71-76. 

56.    

57.   Baig, S.M., Khan, S., Anjum, S., Khanum, A., Haider. M.Z. and Qazi, M.H. 1991. Circulating levels of 17b-Estradiol, Testosterone and Progesterone in postmenopausal breast cancer patients receiving anticancer chemotherapy. Pakistan Journal of Zoology, 23(4): 335-338.

58.    

59.   Anjum, S., Khan, S., Baig, S.M., Khanum, A., Haider. M.Z. and Qazi, M.H. 1991. Effect of chemotherapy on circulating steroid hormone levels in postoperative premenopausal breast cancer patients. Journal of Pakistan Medical Association, 41:296-298,

60.    

Mahmood, A., Baig, S.M., Khan, M.N, Malik, S.A. and Khanum, A. 1991. Production and characterization of antisera against steroids in rabbits. Pakistan Journal of Zoology, 23(2):277-283.  

Baig, S.M., Khan, S., Anjum, S., Khanum, A., Haider. M.Z. and Qazi, M.H. 1991. Circulating levels of 17b-Estradiol, Testosterone and Progesterone in postmenopausal breast cancer patients receiving anticancer chemotherapy. Pakistan Journal of Zoology, 23(4): 335-338.  

Khan, S., Anjum, S., Baig, S.M., Khanum, A., Haider. M.Z. and Qazi, M.H. 1991. Studies on the in vitro and in vivo release of the hormonal steroids bound to a polymer base. Pakistan Journal of Zoology, 23(3): 263-273.

Ali, A., Khan, M.M.R., Charania, B.A., Bhojani, F.A. and Baig, S.M. 1992. Impact of long term supply of iodized salt to the endemic goiter area. Journal of Pakistan Medical Association, 42(6): 138-140.

Anjum, S., Khan, S., Baig, S.M., Khanum, A., Haider. M.Z. and Qazi, M.H. 1991. Effect of chemotherapy on circulating steroid hormone levels in postoperative premenopausal breast cancer patients. Journal of Pakistan Medical Association, 41:296-298.

Ali, A., Motiurrehman., Iqbal, A., Jabbar, A., Baig, S.M., Mahmood, A. 1992. Thyroid-Hormone profile of some iodine deficient residents of village Rumli Sharif, District Islamabad. Proceedings of Pakistan Congress of Zoology. 12:405-409.

Ullah,N., Wright, R.W., Mehmood, A., Baig,S.M. 1991. Endocrine profile in relation to ovarian response, recovery rate and quality of embryos in Nili Ravi Buffalos treated with FSH. Proceedings of Pakistan Congress of Zoology.