| Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition SG Ghosh, S Lee, R Fabunan, G Chai, MS Zaki, G Abdel-Salam, T Sultan, ... Genetics in Medicine 23 (3), 524-533, 2021 | 23 | 2021 |
| Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia ZY Yap, S Efthymiou, S Seiffert, KV Parra, S Lee, A Nasca, R Maroofian, ... The American Journal of Human Genetics 108 (12), 2368-2384, 2021 | 15 | 2021 |
| Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies M Iqbal, R Maroofian, B Çavdarlı, F Riccardi, M Field, S Banka, ... Genetics in Medicine 23 (11), 2138-2149, 2021 | 13 | 2021 |
| Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome P De Nittis, S Efthymiou, A Sarre, N Guex, J Chrast, A Putoux, T Sultan, ... Journal of medical genetics 58 (12), 815-831, 2021 | 6 | 2021 |
| The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders A Saffari, T Lau, H Tajsharghi, EG Karimiani, A Kariminejad, S Efthymiou, ... Brain 146 (8), 3273-3288, 2023 | 4 | 2023 |
| Novel likely disease-causing CLN5 variants identified in Pakistani patients with neuronal ceroid lipofuscinosis B Azad, S Efthymiou, T Sultan, M Scala, JR Alvi, C Neuray, N Dominik, ... Journal of the Neurological Sciences 414, 116826, 2020 | 4 | 2020 |
| Pseudo-torch-A rare mutation causing global development delay, microcephaly and extensive band like brain calcification JR Alvi, SG Ahdi, M Sultan, T Sultan Pakistan Journal of Neurological Sciences (PJNS) 16 (4), 35-37, 2021 | 3 | 2021 |
| Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder G D’Onofrio, A Accogli, M Severino, H Caliskan, T Kokotović, A Blazekovic, ... Human Genetics 142 (7), 909-925, 2023 | 2 | 2023 |
| Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies A Accogli, MS Zaki, M Al-Owain, MY Otaif, A Jackson, E Argilli, ... Brain Communications 5 (5), fcad222, 2023 | 2 | 2023 |
| Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders R Kaiyrzhanov, A Rad, SJ Lin, A Bertoli-Avella, WW Kallemeijn, A Godwin, ... Brain 147 (4), 1436-1456, 2024 | 1 | 2024 |
| Clinical and molecular heterogeneity of VPS13D-related neurodevelopmental and movement disorders T Sultan, G Scorrano, M Panciroli, M Christoforou, JR Alvi, A Di Ludovico, ... Gene 899, 148119, 2024 | 1 | 2024 |
| Spectrum of neurological disorders in children: frequency, distribution, pattern and related factors A Ibrahim, S Ahdi, S Rafique, J Alvi, A Wasim, T Sultan Pak Pediatr J 47 (1), 61-66, 2023 | 1 | 2023 |
| Post COVID anti-NMDAR Encephalitis in an adolescent girl JR Alvi, MH Sultan, T Sultan Pakistan Journal of Neurological Sciences (PJNS) 17 (1), 16-20, 2022 | 1 | 2022 |
| The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders J Sidpra, S Sudhakar, A Biswas, F Massey, V Turchetti, T Lau, E Cook, ... Brain, awae056, 2024 | | 2024 |
| Novel biallelic variants expand the phenotypic spectrum of FAR1-related disorder H Tasan, A Rasheed, A Raqeeb, J Setzke, B Vona, GH Seo, Y Kriouile, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 536-536, 2024 | | 2024 |
| Expanding the Clinical and Genetic Spectrum of RAB3GAP1-Related Disorders with Novel Movement Disorders ML Wiese, A Saffari, R Kaiyrzhanov, PN Torbati, EG Karimiani, M Zamani, ... Neuropediatrics 54 (S 01), A-236, 2023 | | 2023 |
| Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders F Langhammer, R Maroofian, R Badar, A Gregor, M Rochman, JB Ratliff, ... Genetics in Medicine 25 (8), 100885, 2023 | | 2023 |
| NEUROLOGICAL DISORDERS IN PAKISTAN: FREQUENCY, DISTRIBUTION, PATTERN AND RELATED FACTORS: NEUROLOGICAL DISORDERS IN PAKISTAN A Ibrahim, SG Ahdi, S Rafique, JR Alvi, A Waseem, T Sultan Pakistan Pediatric Journal 47 (1), 2023 | | 2023 |
| Spectrum of Inherited Metabolic Disorders with Neurological Manifestations in Children Presenting to Neurology Department WUR RAHMAN, SGUL AHDI, MA KHALILY, ZIAUR REHMAN, JR ALVI, ... Pakistan Pediatric Journal 47 (1), 2023 | | 2023 |
| Efficacy of Steroid Therapy in Management of Sydenham’s Chorea in Children: A Comparative Prospective Study M Ali, JR Alvi, T Sultan Pakistan Armed Forces Medical Journal 73 (1), 294-97, 2023 | | 2023 |
