| Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population M Shahzad, S Yousaf, YM Waryah, H Gul, T Kausar, N Tariq, U Mahmood, ... Scientific reports 7 (1), 44185, 2017 | 29 | 2017 |
| Identification and clinical characterization of Hermansky-Pudlak syndrome alleles in the Pakistani population S Yousaf, M Shahzad, K Tasleem, SA Sheikh, N Tariq, AS Shabbir, M Ali, ... Pigment cell & melanoma research 29 (2), 231, 2016 | 23 | 2016 |
| Delineation of novel compound heterozygous variants in LTBP2 associated with juvenile open angle glaucoma O Saeedi, S Yousaf, J Tsai, K Palmer, S Riazuddin, ZM Ahmed Genes 9 (11), 527, 2018 | 21 | 2018 |
| Identities and frequencies of variants in CYP1B1 causing primary congenital glaucoma in Pakistan M Rashid, S Yousaf, SA Sheikh, Z Sajid, AS Shabbir, T Kausar, N Tariq, ... Molecular vision 25, 144, 2019 | 20 | 2019 |
| Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants DN Frank, APJ Giese, L Hafren, TC Bootpetch, TKL Yarza, MJ Steritz, ... Journal of medical genetics 58 (7), 442-452, 2021 | 15 | 2021 |
| Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6 S Yousaf, S Sethna, MA Chaudhary, RS Shaikh, S Riazuddin, ZM Ahmed Pigment cell & melanoma research 33 (4), 556-565, 2020 | 15 | 2020 |
| INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family S Yousaf, SA Sheikh, S Riazuddin, AM Waryah, ZM Ahmed Clinical Genetics 93 (3), 682-686, 2018 | 15 | 2018 |
| UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly RE Schnur, S Yousaf, J Liu, WK Chung, L Rhodes, M Marble, ... Genetics in Medicine 23 (9), 1624-1635, 2021 | 9 | 2021 |
| PDE6C: Novel mutations, atypical phenotype, and differences among children and adults MD Varela, E Ullah, S Yousaf, BP Brooks, RB Hufnagel, LA Huryn Investigative Ophthalmology & Visual Science 61 (12), 1-1, 2020 | 9 | 2020 |
| Genetic causes of oculocutaneous albinism in Pakistani population Z Sajid, S Yousaf, YM Waryah, TA Mughal, T Kausar, M Shahzad, AR Rao, ... Genes 12 (4), 492, 2021 | 8 | 2021 |
| Novel Homozygous Missense Variant in GJA3 Connexin Domain Causing Congenital Nuclear and Cortical Cataracts AY Hassan, S Yousaf, MR Levin, OJ Saeedi, S Riazuddin, JL Alexander, ... International Journal of Molecular Sciences 23 (1), 240, 2021 | 5 | 2021 |
| Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani population M Shahzad, J Sires Campos, N Tariq, C Herraiz Serrano, R Yousaf, ... Pigment cell & melanoma research 28 (6), 730-735, 2015 | 5 | 2015 |
| Corneal structural changes in congenital glaucoma J Drechsler, A Lee, S Maripudi, L Kueny, MR Levin, OJ Saeedi, ... Eye & contact lens 48 (1), 27-32, 2022 | 3 | 2022 |
| Photosynthetic Efficiency and Antioxidant Defense Potential are Key Players in Inducing Drought Tolerance in Transgenic Tobacco Plants Over-Expressing AVP1 H Manzoor, MS Anjam, F Saeed, S Rasul, S Yousaf, A Kirn, MK Qureshi, ... Journal of Plant Growth Regulation 41 (7), 2653-2668, 2022 | 2 | 2022 |
| Delineating the Molecular and Phenotypic Spectrum of the CNGA3-Related Cone Photoreceptor Disorder in Pakistani Families S Yousaf, N Tariq, Z Sajid, SA Sheikh, T Kausar, YM Waryah, RS Shaikh, ... Genes 13 (4), 617, 2022 | 1 | 2022 |
| Loss of uba2 function in zebrafish phenocopies a rare human disorder S Yousaf, J Liu, M Flage, S Kuppa, MS Abu-Asab, R Hufnagel Investigative Ophthalmology & Visual Science 61 (7), 2790-2790, 2020 | 1 | 2020 |
| Conventional and Modern Methods of Preservation of Foods AM Nasrullah, S Yousaf, G Atiq, RK Iqbal Food Sci Nutr Technol 4, 2019 | 1 | 2019 |
| Role of LRP5 in hereditary retinal vasculopathies: Zebrafish disease model FY Tuncay, S Yousaf, HA Burgess, RB Hufnagel EUROPEAN JOURNAL OF HUMAN GENETICS 32, 39-39, 2024 | | 2024 |
| A precision genomics approach to validating NOLC1 as the cause of a unique nanophthalmos-microcephaly syndrome S Yousaf, B Carrington, Z Li, M Abu-Asab, L Huryn, R Sood, RB Hufnagel Investigative Ophthalmology & Visual Science 64 (8), 4525-4525, 2023 | | 2023 |
| Transcriptional mapping of the macaque retina and RPE-choroid reveals conserved inter-tissue transcription drivers and signaling pathways A Mungale, DM McGaughey, C Zhang, S Yousaf, J Liu, BP Brooks, ... Frontiers in Genetics 13, 949449, 2022 | | 2022 |
