In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype by Shamim Saleha, Muhammad Ajmal, Muhammad Jamil

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USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families by Asif Naveed Ahmed, Raheel Tahir, Niamat Khan, Mushtaq Ahmad, Muhammad Dawood, Abdul Basit, Muhammad Yasin, Maha Nowshid, Muhammad Marwan, Komal Sultan, Shamim Saleha

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Genetic heterogeneity in epilepsy and comorbidities: insights from Pakistani families by Muhammad Yasin, Laura Licchetta, Niamat Khan, Irfan Ullah, Zakir Jan, Muhammad Dawood, Asif Naveed Ahmed, Arfa Azeem, Raffaella Minardi, Valerio Carelli, Shamim Saleha

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Novel mutations in ALDH1A3 associated with autosomal recessive anophthalmia/microphthalmia, and review of the literature by Siying Lin, Gaurav V. Harlalka, Abdul Hameed, Hadia Moattar Reham, Muhammad Yasin, Noor Muhammad, Saadullah Khan, Emma L. Baple, Andrew H. Crosby, Shamim Saleha

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Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families by Syeda Iqra Hussain, Nazif Muhammad, Shahbaz Ali Shah, Adil u Rehman, Sher Alam Khan, Shamim Saleha, Yar Muhammad Khan, Noor Muhammad, Saadullah Khan, Naveed Wasif

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Expanding the genetic spectrum of hereditary motor sensory neuropathies in Pakistan by Asif Naveed Ahmed, Lettie E. Rawlins, Niamat Khan, Zakir Jan, Nishanka Ubeyratna, Nikol Voutsina, Arfa Azeem, Saadullah Khan, Emma L. Baple, Andrew H. Crosby, Shamim Saleha

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Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani families by Arfa Azeem, Asif Naveed Ahmed, Niamat Khan, Nikol Voutsina, Irfan Ullah, Nishanka Ubeyratna, Muhammad Yasin, Emma L. Baple, Andrew H. Crosby, Lettie E. Rawlins, Shamim Saleha

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Unravelling the genetic basis of retinal dystrophies in Pakistani consanguineous families by Muhammad Marwan, Muhammad Dawood, Mukhtar Ullah, Irfan Ullah Shah, Niamat Khan, Muhammad Taimur Hassan, Muhammad Karam, Lettie E. Rawlins, Emma L Baple, Andrew H. Crosby, Shamim Saleha

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Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation by Neelam Meraj, Muhammad Yasin, Zia Ur Rehman, Haleema Tahir, Humaira Jadoon, Niamat Khan, Rabia Shahid, Maria Zubair, Irba Zulfiqar, Musarrat Jabeen, Shahzadi Neelam, Abdul Hameed, Shamim Saleha

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Novel mutations in PDE6A and CDHR1 cause retinitis pigmentosa in Pakistani families by Muhammad Dawood, Siying Lin, Taj Ud Din, Irfan Ullah Shah, Niamat Khan, Abid Jan, Muhammad Marwan, Komal Sultan, Maha Nowshid, Raheel Tahir, Asif Naveed Ahmed, Muhammad Yasin, Emma L. Baple, Andrew H. Crosby, Shamim Saleha

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