| A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles M Ayub, S Basit, M Jelani, FU Rehman, M Iqbal, M Yasinzai, W Ahmad The American Journal of Human Genetics 85 (4), 515-520, 2009 | 95 | 2009 |
| Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3) Z Azeem, M Jelani, G Naz, M Tariq, N Wasif, S Kamran-ul-Hassan Naqvi, ... Human genetics 123, 515-519, 2008 | 52 | 2008 |
| Selective glycosidase inhibitors: A patent review (2012–present) A Wadood, M Ghufran, A Khan, SS Azam, M Jelani, R Uddin International journal of biological macromolecules 111, 82-91, 2018 | 49 | 2018 |
| Exome analysis identified a novel missense mutation in the CLPP gene in a consanguineous Saudi family expanding the clinical spectrum of Perrault Syndrome type-3 S Ahmed, M Jelani, N Alrayes, HSA Mohamoud, MM Almramhi, ... Journal of the neurological sciences 353 (1-2), 149-154, 2015 | 48 | 2015 |
| Subtractive genome analysis for in silico identification and characterization of novel drug targets in Streptococcus pneumonia strain JJA A Wadood, A Jamal, M Riaz, A Khan, R Uddin, M Jelani, SS Azam Microbial pathogenesis 115, 194-198, 2018 | 41 | 2018 |
| A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features HS Mohamoud, S Ahmed, M Jelani, N Alrayes, K Childs, N Vadgama, ... Scientific reports 8 (1), 2053, 2018 | 37 | 2018 |
| A novel deletion mutation in LIPH gene causes autosomal recessive hypotrichosis (LAH2) M Jelani, N Wasif, G Ali, MS Chishti, W Ahmad Clinical genetics 74 (2), 184-188, 2008 | 36 | 2008 |
| Novel nonsense mutation in the PTRF gene underlies congenital generalized lipodystrophy in a consanguineous Saudi family M Jelani, S Ahmed, MM Almramhi, HSA Mohamoud, K Bakur, W Anshasi, ... European journal of medical genetics 58 (4), 216-221, 2015 | 35 | 2015 |
| Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1) M Jelani, MS Chishti, W Ahmad Journal of human genetics 56 (5), 352-357, 2011 | 35 | 2011 |
| A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities M Jelani, HC Dooley, A Gubas, HSA Mohamoud, MTM Khan, Z Ali, ... Brain 142 (5), 1242-1254, 2019 | 34 | 2019 |
| Mutation Analysis of the ASPM Gene in 18 Pakistani Families With Autosomal Recessive Primary Microcephaly R Kousar, H Nawaz, M Khurshid, G Ali, SU Khan, H Mir, M Ayub, A Wali, ... Journal of child neurology 25 (6), 715-720, 2010 | 34 | 2010 |
| Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12–q21. 2 M Naeem, M Jelani, K Lee, G Ali, MS Chishti, A Wali, A Gul, P John, ... British Journal of Dermatology 155 (6), 1184-1190, 2006 | 33 | 2006 |
| A novel splice‐site mutation in the CDH3 gene in hypotrichosis with juvenile macular dystrophy M Jelani, M Salman Chishti, W Ahmad Clinical and experimental dermatology 34 (1), 68-73, 2009 | 31 | 2009 |
| Mutations in the P2RY5 gene underlie autosomal recessive hypotrichosis in 13 Pakistani families M Tariq, M Ayub, M Jelani, S Basit, G Naz, N Wasif, SI Raza, AK Naveed, ... British Journal of Dermatology 160 (5), 1006-1010, 2009 | 30 | 2009 |
| A novel missense mutation in the CLPP gene causing Perrault syndrome type 3 in a Turkish family F Dursun, HSA Mohamoud, N Karim, M Naeem, M Jelani, ... Journal of clinical research in pediatric endocrinology 8 (4), 472, 2016 | 28 | 2016 |
| Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family OU Rahman, N Khawar, MA Khan, J Ahmed, K Khattak, JY Al-Aama, ... Diagnostic Pathology 8, 1-7, 2013 | 28 | 2013 |
| A novel homozygous PTH1R variant identified through whole-exome sequencing further expands the clinical spectrum of primary failure of tooth eruption in a consanguineous Saudi … M Jelani, C Kang, HSA Mohamoud, R Al-Rehaili, MM Almramhi, R Serafi, ... Archives of Oral Biology 67, 28-33, 2016 | 26 | 2016 |
| Truncating mutation in intracellular phospholipase A1 gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54) N Alrayes, HSA Mohamoud, M Jelani, S Ahmad, N Vadgama, K Bakur, ... BMC research notes 8, 1-5, 2015 | 22 | 2015 |
| The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family N Alrayes, HSA Mohamoud, S Ahmed, MM Almramhi, TM Shuaib, J Wang, ... Journal of the neurological sciences 363, 240-244, 2016 | 20 | 2016 |
| Case of Sjögren–Larsson syndrome with a large deletion in the ALDH3A2 gene confirmed by single nucleotide polymorphism array analysis NEA Gaboon, M Jelani, MM Almramhi, HSA Mohamoud, JY Al‐Aama The Journal of dermatology 42 (7), 706-709, 2015 | 19 | 2015 |
