- Mahmood S, Ahmad W, Hassan MJ. Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum. Orphanet J Rare Dis. 2011 Jun 13;6:39.
- Ali A, Babar M E, Mahmood S, Imran M, First report of GTG-banded nomenclature of Pakistani Lohi sheep (Ovis aries) Turk. J. Vet. Anim. Sci. 2011; 35(1): doi:10.3906/vet-0802-26
- Mahmood S, Beetz C, Tahir MM, Imran M, Mumtaz R, Bassmann I, Jahic A, Malik M, Nürnberg G, Ali Hassan SA, Rana S, Nürnberg P, Huebner CA. First HPSE2 missense mutation in Urofacial Syndrome.Clin Genet. 2011, Feb 17. doi: 10.1111/j.1399-0004.2011.01649.x.
- Khokher S, Mahmood S, Khan SA. Response to neoadjuvant chemotherapy in patients with advanced breast cancer: a local hospital experience.Asian Pac J Cancer Prev. 2010;11(2):303-8.
- Sajid N, Ahmed N, Mahmood S. Clinicopathological features of transient myeloproliferative syndrome and congenital leukaemia. J Coll Physicians Surg Pak. 2010 Sep;20(9):576-80.
- Rana S, Mahmood S, Circadian rhythm and its role in malignancy J Circadian Rhythms. 2010 Mar 31;8:3.
- Asim Mumtaz, Nadeem Afzal, Waqas Sami, Romeeza Tahir, Khursheed Javeed, Saqib Mahmood Evaluation of four ELISA based immunoassays for the detection of IgM antibodies against Dengue virus Biomedica Jan – Jun 2010; 26: 54-57
- Nadia Rashid, Asim Mumtaz, Saqib Mahmood, Nadeem Afzal, Salma Haq, Tanveer Ahmad. Assessment of Thyroid Dysfunction in Down Syndrome Patients Pak Paed J Dec 2009;33(4):211-7
- Hassan MJ, Mahmood S, Ali G, Bibi N, Waheed I, Rafiq MA, Ansar M, Ahmad W. Intragenic deletions in the dystrophin gene in 211 Pakistani Duchenne Muscular Dystrophy Patients Pediatrics International (2008) 50, 162–166
- Mahfoozur Rehman, Abid Ali Qureshi, Quratul Ain, Saqib Mahmood, MRI findings of Pituitary Gland in Beta Thalassaemia Major Patients Pak Paed J 2007;31(3):137-41
- Gul A, Hassan MJ, Mahmood S, Chen W, Rahmani S, Naseer MI, Dellefave L, Muhammad N, Rafiq MA, Ansar M, Chishti MS, Ali G, Siddique T, Ahmad W. Genetic studies of Autosomal Recessive Primary Microcephaly in 33 Pakistani families: novel sequence variants in ASPM gene. Neurogenetics (2006) May;7(2):105-10
- Rafiq MA, Ansar M, Mahmood S, Haque S, Faiyaz-ul-Haque M, Leal SM, Ahmad W.A Recurrent Intragenic Deletion Mutation in DSG4 gene in Three Pakistani Families with Autosomal Recessive Hypotrichosis” J Invest Dermatol. (2004) Jul;123(1):247-8
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