| Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2 M Pekkinen, PA Terhal, LD Botto, P Henning, RE Mäkitie, P Roschger, ... JCI insight 4 (7), 2019 | 53 | 2019 |
| Biallelic variants in four genes underlying recessive osteogenesis imperfecta A Hayat, S Hussain, M Bilal, M Kausar, B Almuzzaini, S Abbas, A Tanveer, ... European journal of medical genetics 63 (8), 103954, 2020 | 32 | 2020 |
| SGCD Homozygous Nonsense Mutation (p.Arg97∗) Causing Limb-Girdle Muscular Dystrophy Type 2F (LGMD2F) in a Consanguineous Family, a Case Report M Younus, F Ahmad, E Malik, M Bilal, M Kausar, S Abbas, S Shaheen, ... Frontiers in Genetics 9, 727, 2019 | 22 | 2019 |
| Road toward rapid-molecular point of care test to detect novel SARS-coronavirus 2019 (COVID-19): Review from updated literature S Ahmad, N Ali, M Kausar, H Misbah, A Wahid Allergologia et immunopathologia 48 (5), 518-520, 2020 | 20 | 2020 |
| Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta M Kausar, S Siddiqi, M Yaqoob, S Mansoor, O Makitie, A Mir, CC Khor, ... Journal of biomedical science 25, 1-10, 2018 | 15 | 2018 |
| A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family M Kausar, EGY Chew, H Ullah, M Anees, CC Khor, JN Foo, O Makitie, ... Frontiers in Genetics 10, 144, 2019 | 12 | 2019 |
| Identification and in silico characterization of a novel p. P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family M Ajmal, A Mir, S Wahid, CC Khor, JN Foo, S Siddiqi, M Kauser, SA Malik, ... BMC Medical Genetics 18, 1-9, 2017 | 12 | 2017 |
| Recessive multiple epiphyseal dysplasia–Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes M Kausar, RE Mäkitie, S Toiviainen-Salo, J Ignatius, M Anees, O Mäkitie European Journal of Medical Genetics 62 (11), 103573, 2019 | 11 | 2019 |
| Pharmacological evaluation of Rhazya stricta root extract R Mahmood, F Malik, S Shamas, T Ahmed, M Kausar, S Rubnawaz, ... Bol Latinoam Caribe Plant Med Aromat 19 (2), 188-206, 2020 | 9 | 2020 |
| A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family. K Nikopoulos, GU Butt, P Farinelli, M Mudassar, E Domènech‐Estévez, ... Clinical genetics 89 (4), 2016 | 8 | 2016 |
| Biallelic variants in CHST3 cause Spondyloepiphyseal dysplasia with joint dislocations in three Pakistani kindreds M Kausar, NU Ain, F Hayat, H Fatima, S Azim, H Ullah, M Mushtaq, ... BMC Musculoskeletal Disorders 23 (1), 818, 2022 | 7 | 2022 |
| Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2. JCI Insight 4 (7): e126180 M Pekkinen, PA Terhal, LD Botto, P Henning, RE Mäkitie, P Roschger, ... | 4 | 2019 |
| Correction to: Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta M Kausar, S Siddiqi, M Yaqoob, S Mansoor, O Makitie, A Mir, CC Khor, ... J Biomed Sci. 26 (1), 31, 2019 | 1 | 2019 |
| Variants in FREM1 and trisomy 18 identified in a neonatal progeria patient S Siddiqi, N Ain, M Kauser, Z Mukhtar, M Ansar, M Umair Molecular Biology Reports 50 (9), 7935-7939, 2023 | | 2023 |
| Genotype frequency and pattern of transmission and of Hepatitis C virus (HCV) from the Capital city and proximate areas of the Pakistan AH Hashmi, A Farooq, M Kausar, MA Husnain, M Imran | | 2023 |
| Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta (vol 25, pg 82, 2018) M Kausar, S Siddiqi, M Yaqoob, S Mansoor, O Makitie, A Mir, CC Khor, ... JOURNAL OF BIOMEDICAL SCIENCE 26, 2019 | | 2019 |
| A Recurrent Mutation in CTSK Gene is Responsible for Autosomal Recessive Pycnodysostosis in Consanguineous Pakistani Families M Kausar, N Ashraf, F Hayat, AH Hashmi, S Siddiqi, M Anees Pakistan Journal of Zoology 49 (5), 2017 | | 2017 |
