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| A GDF5 frameshift mutation segregating with Grebe type chondrodysplasia and brachydactyly type C+ in a 6 generations family: Clinical report and mini review S Faryal, M Farooq, U Abdullah, Z Ali, SM Saadi, F Ullah, K Khan, ... European Journal of Medical Genetics 64 (7), 104226, 2021 | 7 | 2021 |
| A homozygous founder variant in PDE2A causes paroxysmal dyskinesia with intellectual disability H Yousaf, S Rehmat, M Jameel, R Ibrahim, SN Hashmi, EUH Makhdoom, ... Clinical Genetics 104 (3), 324-333, 2023 | 2 | 2023 |
| Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder G Aughey, E Cali, R Maroofian, MS Zaki, AT Pagnamenta, F Rahman, ... medRxiv, 2024.05. 03.24306631, 2024 | | 2024 |
| Identification of a rare homozygous variant in the gene GPT2, causing a neurodevelopmental disorder in a consanguineous Pakistani family Z Ali, A Fatima, SM Saadi, M Jameel, SM Baig, M Toft, Z Iqbal EUROPEAN JOURNAL OF HUMAN GENETICS 32, 179-180, 2024 | | 2024 |
| Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders R Maroofian, R Kaiyrzhanov, E Cali, M Zamani, MS Zaki, M Ferla, ... Brain 146 (12), 5031-5043, 2023 | | 2023 |
| Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders SM Saadi, E Cali, LB Khalid, H Yousaf, G Zafar, HN Khan, M Sher, B Vona, ... Genes 14 (7), 1404, 2023 | | 2023 |
| Whole Exome Sequencing Identifies Novel Variants Underlying Ataxia With Oculomotor Apraxia Type 1 in Pakistani Consanguineous Families S Saadi, E Cali, S Efthymiou, S Khan, A Khan, J Alvi, T Sultan, M Tariq, ... MOVEMENT DISORDERS 37, S227-S227, 2022 | | 2022 |
