| Clinical genetics of polydactyly: an updated review M Umair, F Ahmad, M Bilal, W Ahmad, M Alfadhel Frontiers in genetics 9, 447, 2018 | 116 | 2018 |
| Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families M Umair, A Hassan, A Jan, F Ahmad, M Imran, MI Samman, S Basit, ... Journal of human genetics 61 (3), 207-213, 2016 | 39 | 2016 |
| 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 | 36 | 2020 |
| Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type‐grebe in consanguineous families M Umair, A Rafique, A Ullah, F Ahmad, RH Ali, A Nasir, M Ansar, ... Congenital Anomalies 57 (2), 45-51, 2017 | 35 | 2017 |
| Homozygous sequence variants in the WNT10B gene underlie split hand/foot malformation A Ullah, A Gul, M Umair, Irfanullah, F Ahmad, A Aziz, A Wali, W Ahmad Genetics and Molecular Biology 41 (1), 1-8, 2018 | 34 | 2018 |
| Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3 M Umair, B Alhaddad, A Rafique, A Jan, TB Haack, E Graf, A Ullah, ... Pediatric research 82 (5), 753-758, 2017 | 33 | 2017 |
| Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families A Ullah, M Umair, M Yousaf, SA Khan, K Shah, F Ahmad, Z Azeem, G Ali, ... Molecular Vision 23, 482, 2017 | 33 | 2017 |
| Whole exome sequencing as a diagnostic tool for genetic disorders in Pakistan M Umair, F Ahmad, A Ullah Pakistan Journal of Medical Research 57 (2), 90-91, 2018 | 31 | 2018 |
| First direct evidence of involvement of a homozygous loss‐of‐function variant in the EPS15L1 gene underlying split‐hand/split‐foot malformation M Umair, A Ullah, S Abbas, F Ahmad, S Basit, W Ahmad Clinical Genetics 93 (3), 699-702, 2018 | 30 | 2018 |
| 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 |
| 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 | 25 | 2023 |
| Ellis–van Creveld syndrome and profound deafness resulted by sequence variants in the EVC / EVC2 and TMC1 genes M Umair, H Seidel, I Ahmed, A Ullah, TB Haack, B Alhaddad, A Jan, ... Journal of genetics 96, 1005-1014, 2017 | 25 | 2017 |
| 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 | 24 | 2019 |
| 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 |
| A novel missense variant in the PNPLA1 gene underlies congenital ichthyosis in three consanguineous families F Ahmad, M Ansar, S Mehmood, A Izoduwa, K Lee, A Nasir, M Abrar, ... Journal of the European Academy of Dermatology and Venereology: JEADV 30 (12 …, 2015 | 23 | 2015 |
| Biallelic Missense Mutation in the ECEL1 Underlies Distal Arthrogryposis Type 5 (DA5D) M Umair, A Khan, A Hayat, S Abbas, A Asiri, M Younus, W Amin, S Nawaz, ... Frontiers in Pediatrics 7, 343, 2019 | 19 | 2019 |
| 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 | 17 | 2020 |
| 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 |
| 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 | 15 | 2019 |
| Mutations in the lipase‐H gene causing autosomal recessive hypotrichosis and woolly hair S Mehmood, A Jan, D Muhammad, F Ahmad, H Mir, M Younus, G Ali, ... Australasian Journal of Dermatology 56 (3), e66-e70, 2015 | 14 | 2015 |
Majid AlfadhelHead Genetics division, Department of Pediatrics, King Saud bin Abdulaziz University for HealthVerified email at ngha.med.sa