| GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis–van Creveld syndrome A Palencia-Campos, A Ullah, J Nevado, R Yıldırım, E Unal, M Ciorraga, ... Human molecular genetics 26 (23), 4556-4571, 2017 | 63 | 2017 |
| FAM92A underlies nonsyndromic postaxial polydactyly in humans and an abnormal limb and digit skeletal phenotype in mice I Schrauwen, APJ Giese, A Aziz, DT Lafont, I Chakchouk, ... Journal of Bone and Mineral Research 34 (2), 375-386, 2019 | 36 | 2019 |
| 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 | 31 | 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 | 30 | 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 | 30 | 2017 |
| A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre‐axial polydactyly. W Ahmad, A Ullah, M Umair, A Jan, AI Majeed Clinical Genetics 95 (4), 2019 | 29 | 2019 |
| 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 | 29 | 2018 |
| 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 | 29 | 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 | 28 | 2018 |
| A novel heterozygous intragenic sequence variant in DLX6 probably underlies first case of autosomal dominant split-hand/foot malformation type 1 A Ullah, A Hammid, M Umair, W Ahmad Molecular Syndromology 8 (2), 79-84, 2017 | 26 | 2017 |
| A novel deletion mutation in the DSG4 gene underlies autosomal recessive hypotrichosis with variable phenotype in two unrelated consanguineous families WA A Ullah 1, S I Raza, R H Ali, A K Naveed, A Jan, S D A Rizvi, R Satti Clin Exp Dermatol 40 (1), 78-84, 2015 | 26 | 2015 |
| 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 | 23 | 2017 |
| 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 …, 2016 | 22 | 2016 |
| Identification of novel LEPR mutations in Pakistani families with morbid childhood obesity RK Niazi, AP Gjesing, M Hollensted, CT Have, N Grarup, O Pedersen, ... BMC medical genetics 19, 1-8, 2018 | 19 | 2018 |
| A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairment I Schrauwen, I Chakchouk, K Liaqat, A Jan, A Nasir, S Hussain, ... Human genetics 137, 471-478, 2018 | 19 | 2018 |
| Exome sequencing revealed a novel splice site variant in the ALX1 gene underlying frontonasal dysplasia A Ullah, UE Kalsoom, M Umair, P John, M Ansar, S Basit, W Ahmad Clinical genetics 91 (3), 494-498, 2017 | 19 | 2017 |
| Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families S Khan, LE Rawlins, GV Harlalka, M Umair, A Ullah, S Shahzad, M Javed, ... BMC Medical Genetics 20, 1-9, 2019 | 18 | 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 | 16 | 2018 |
| Molecular Insights into the Role of Pathogenic nsSNPs in GRIN2B Gene Provoking Neurodevelopmental Disorders AA Shah, M Amjad, JU Hassan, A Ullah, A Mahmood, H Deng, Y Ali, F Gul, ... Genes 13 (8), 1332, 2022 | 15 | 2022 |
| Association of endothelial nitric oxide synthase gene variants with preeclampsia G Shaheen, S Jahan, N Bibi, A Ullah, R Faryal, A Almajwal, T Afsar, ... Reproductive health 18, 1-15, 2021 | 15 | 2021 |
Muhammad UmairPI-Team Leader-Scientist at King Abdullah International Medical Research Center (KAIMRC)Verified email at ngha.med.sa
