| Alterations of the CIB2 calcium-and integrin-binding protein cause Usher syndrome type 1J and nonsyndromic deafness DFNB48 S Riazuddin, IA Belyantseva, APJ Giese, K Lee, AA Indzhykulian, ... Nature genetics 44 (11), 1265-1271, 2012 | 255 | 2012 |
| 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 |
| 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 |
| 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 |
| 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 |
| Localization of a novel autosomal recessive hypotrichosis locus (LAH3) to chromosome 13q14. 11–q21. 32 A Wali, MS Chishti, M Ayub, M Yasinzai, Kafaitullah, G Ali, P John, ... Clinical genetics 72 (1), 23-29, 2007 | 30 | 2007 |
| Mutations in the LPAR6 and LIPH genes underlie autosomal recessive hypotrichosis/woolly hair in 17 consanguineous families from Pakistan S Khan, R Habib, H Mir, G Naz, M Ayub, S Shafique, T Yamin, N Ali, ... Clinical and experimental dermatology 36 (6), 652-654, 2011 | 24 | 2011 |
| Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia Z Azeem, SKUH Naqvi, M Ansar, A Wali, AK Naveed, G Ali, MJ Hassan, ... Archives of dermatological research 301, 625-629, 2009 | 20 | 2009 |
| Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene A Wali, M Ansar, MN Khan, W Ahmad Clinical and experimental dermatology 31 (5), 695-698, 2006 | 19 | 2006 |
| A novel locus for alopecia with mental retardation syndrome (APMR2) maps to chromosome 3q26. 2‐q26. 31 A Wali, P John, A Gul, K Lee, MS Chishti, G Ali, MJ Hassan, SM Leal, ... Clinical genetics 70 (3), 233-239, 2006 | 18 | 2006 |
| Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2) G Naz, B Khan, G Ali, Z Azeem, A Wali, M Ansar, W Ahmad Journal of dermatological science 54 (1), 12-16, 2009 | 17 | 2009 |
| Digenic inheritance of an autosomal recessive hypotrichosis in two consanguineous pedigrees S Basit, A Wali, A Aziz, N Muhammad, M Jelani, W Ahmad Clinical genetics 79 (3), 273-281, 2011 | 16 | 2011 |
| Mapping of a Gene for Alopecia with Mental Retardation Syndrome (APMR3) on Chromosome 18q11. 2‐q12. 2 A Wali, G Ali, P John, K Lee, MS Chishti, SM Leal, W Ahmad Annals of human genetics 71 (5), 570-577, 2007 | 16 | 2007 |
| Mutations in the gene phospholipase C, delta-1 (PLCD1) underlying hereditary leukonychia MS ARIF, G ALI, A WALI, M ANSAR, W AHMAD | 15 | 2012 |
| Familial primary localized cutaneous amyloidosis results from either dominant or recessive mutations in OSMR A Wali, L Liu, T Takeichi, M Jelani, OU Rahman, YK Heng, S Thng, J Lee, ... Acta Derm Venereol 95 (8), 1005-7, 2015 | 14 | 2015 |
| XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect A Ijaz, S Basit, A Gul, L Batool, A Hussain, S Afzal, K Ramzan, J Ahmad, ... Congenital anomalies 59 (1), 18-21, 2019 | 13 | 2019 |
| Novel frameshift mutations in XPC gene underlie xeroderma pigmentosum in Pakistani families A Ijaz, K Shah, A Aziz, FU Rehman, Y Ali, AM Tareen, K Khan, M Ayub, ... Indian Journal of Dermatology 66 (2), 220-222, 2021 | 11 | 2021 |
| ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairment T Bharadwaj, I Schrauwen, S Rehman, K Liaqat, A Acharya, APJ Giese, ... European Journal of Human Genetics 30 (1), 22-33, 2022 | 10 | 2022 |
| Molecular, cytogenetic, and hematological analysis of chronic myeloid leukemia patients and discovery of two novel translocations M Asif, A Hussain, A Wali, N Ahmed, I Ali, Z Iqbal, M Amir, M Shafiq, ... Analytical Cellular Pathology 2021, 1-19, 2021 | 8 | 2021 |
