| Clinical genetics of polydactyly: an updated review M Umair, F Ahmad, M Bilal, W Ahmad, M Alfadhel Frontiers in genetics 9, 447, 2018 | 118 | 2018 |
| 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 | 37 | 2020 |
| Biallelic variant in DACH1, encoding Dachshund Homolog 1, defines a novel candidate locus for recessive postaxial polydactyly type A M Umair, O Palander, M Bilal, B Almuzzaini, Q Alam, F Ahmad, M Younus, ... Genomics 113 (4), 2495-2502, 2021 | 28 | 2021 |
| A comprehensive review of genetic skeletal disorders reported from Pakistan: a brief commentary M Umair, F Ahamd, M Bilal, A Asiri, M Younus, A Khan Meta Gene 20, 100559, 2019 | 25 | 2019 |
| Genetic overview of postaxial polydactyly: updated classification Z Ahmad, R Liaqat, O Palander, M Bilal, S Zeb, F Ahmad, M Jawad Khan, ... Clinical Genetics 103 (1), 3-15, 2023 | 24 | 2023 |
| 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 | 23 | 2019 |
| Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra-and inter-familial variable phenotypes A Ullah, M Khalid, M Umair, SA Khan, M Bilal, S Khan, W Ahmad Congenit Anom (Kyoto) 58 (5), 173-5, 2018 | 19 | 2018 |
| Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants A Khan, Z Miao, M Umair, A Ullah, MA Alshabeeb, M Bilal, F Ahmad, ... Genes 11 (9), 1021, 2020 | 16 | 2020 |
| A novel homozygous variant in BMPR1B underlies acromesomelic dysplasia Hunter–Thompson type A Ullah, M Umair, D Muhammad, M Bilal, K Lee, SM Leal, W Ahmad Annals of human genetics 82 (3), 129-134, 2018 | 16 | 2018 |
| Variants in GLI3 Cause Greig Cephalopolysyndactyly Syndrome Abdullah, M Yousaf, Z Azeem, M Bilal, K Liaqat, S Hussain, F Ahmad, ... Genetic Testing and Molecular Biomarkers 23 (10), 744-750, 2019 | 15 | 2019 |
| Mutated VWA8 Is Associated With Developmental Delay, Microcephaly, and Scoliosis and Plays a Novel Role in Early Development and Skeletal Morphogenesis … M Umair, M Farooq Khan, M Aldrees, M Nashabat, KM Alhamoudi, M Bilal, ... Frontiers in Cell and Developmental Biology 9, 736960, 2021 | 14 | 2021 |
| Whole‐exome sequencing revealed a nonsense mutation in STKLD1 causing non‐syndromic pre‐axial polydactyly type A affecting only upper limb M Umair, M Bilal, RH Ali, B Alhaddad, F Ahmad, Abdullah, TB Haack, ... Clinical Genetics 96 (2), 134-139, 2019 | 14 | 2019 |
| A novel insertion and deletion mutation in the BHLHA9 underlies polydactyly and mesoaxial synostotic syndactyly with phalangeal reduction A Ullah, RH Ali, AI Majeed, K Liaqat, PW Shah, B Khan, M Bilal, M Umair, ... European Journal of Medical Genetics 62 (4), 278-281, 2019 | 12 | 2019 |
| Syndactyly genes and classification: a mini review M Umair, F Ahmad, M Bilal, S Abbas JBC Genetics 1, 34-47, 2018 | 11 | 2018 |
| Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment K Liaqat, S Hussain, M Bilal, A Nasir, A Acharya, RH Ali, S Nawaz, ... Journal of human genetics 65 (2), 187-192, 2020 | 10 | 2020 |
| Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome H Khan, AEQ Chong, M Bilal, S Nawaz, Abdullah, S Abbasi, A Hussain, ... Journal of Human Genetics 67 (5), 253-259, 2022 | 9 | 2022 |
| Variants in the PNPLA1 Gene in Families with Autosomal Recessive Congenital Ichthyosis Reveal Clinical Significance F Ahmad, I Ahmed, Q Alam, T Ahmad, A Khan, I Ahmad, M Bilal, A Hayat, ... Molecular Syndromology 12 (6), 351-361, 2021 | 9 | 2021 |
| Sequence Variants in the WNT10B and TP63 Genes Underlying Isolated Split-Hand/Split-Foot Malformation M Bilal, A Hayat, M Umair, A Ullah, S Khawaja, E Malik, M Burmeister, ... Genetic Testing and Molecular Biomarkers 24 (9), 600-607, 2020 | 8 | 2020 |
| A novel biallelic variant further delineates PRDX3-related autosomal recessive cerebellar ataxia MM Rafeeq, M Umair, M Bilal, AH Habib, A Waqas, ZM Sain, MZ Alam, ... neurogenetics 24 (1), 55-60, 2023 | 7 | 2023 |
| Homozygous Missense Variant in the Solute Carrier Organic Anion Transporter 2A1 (SLCO2A1) Gene Underlies Isolated Nail Clubbing M Umair, M Bilal, K Shah, G Said, F Ahmad Genes 14 (2), 430, 2023 | 5 | 2023 |
