| Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals K Saida, R Maroofian, T Sengoku, T Mitani, AT Pagnamenta, D Marafi, ... Genetics in Medicine 25 (1), 90-102, 2023 | 17 | 2023 |
| Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications E Rosenhahn, TJ O'Brien, MS Zaki, I Sorge, D Wieczorek, K Rostasy, ... The American Journal of Human Genetics 109 (8), 1421-1435, 2022 | 13 | 2022 |
| Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia LE Novis, RS Frezatti, D Pellerin, PJ Tomaselli, S Alavi, MV Della Coleta, ... Neurology: Genetics 9 (5), e200094, 2023 | 10 | 2023 |
| Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities … DG Calame, I Herman, R Maroofian, AE Marshall, KC Donis, JM Fatih, ... Annals of neurology 92 (2), 304-321, 2022 | 5 | 2022 |
| Molecular mechanisms of the anti-cancer drug, LY2874455, in overcoming the FGFR4 mutation-based resistance F Dehghanian, S Alavi Scientific Reports 11 (1), 16593, 2021 | 5 | 2021 |
| A novel carcinogenic PI3Kα mutation suggesting the role of helical domain in transmitting nSH2 regulatory signals to kinase domain S Ghalamkari, S Alavi, H Mianesaz, F Khosravian, A Bahreini, M Salehi Life Sciences 269, 118759, 2021 | 5 | 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 |
| A recurrent homozygous missense DPM3 variant leads to muscle and brain disease S Nagy, T Lau, S Alavi, EG Karimiani, J Vallian, BG Ng, S Noroozi Asl, ... Clinical Genetics 102 (6), 530-536, 2022 | 4 | 2022 |
| Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities E Cali, M Suri, M Scala, MP Ferla, S Alavi, EA Faqeih, EK Bijlsma, ... Genetics in Medicine 25 (1), 135-142, 2023 | 3 | 2023 |
| Unraveling the genetic landscape of undiagnosed cerebellar ataxia in Brazilian patients LE Novis, S Alavi, D Pellerin, MV Della Coleta, S Raskin, M Spitz, ... Parkinsonism & Related Disorders 119, 105961, 2024 | | 2024 |
| ExDepth: a large deletions analysis algorithm resolved 3% of exome negative cases from a cohort of 1000 neurodevelopmental samples S Alavi, R Kaiyrzhanov, E Self, D Murphy, K Zhelcheska, R Maroofian, ... 56th European Society of Human Genetics Conference 32, 349–795, 2024 | | 2024 |
| Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders DG Calame, JH Wong, P Panda, DT Nguyen, NCP Leong, R Sangermano, ... medRxiv, 2024.02. 09.24302464, 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 |
| Human Asf1a C-terminal Tail Phosphorylation Favours Formation of Stable Secondary Structures in This Intrinsically Disordered Peptide SS Alavi Hejazi Conference on Protein and Peptide Sciences, 2016 | | 2016 |
| بررسی اثر ضد میکروبی اسانس سه گونه آویشن در کنترل بیولوژیک قارچ های Botrytis cinerea و Alternaria infectoria K Khodadadi Shahraki, M Khanahmadi, SS Alavi Hejazi The first international congress on Iran's food industry, 2016 | | 2016 |
| آیا توالی 16S rRNA، دادهی قابل اعتمادی برای ردهبندی تبارزایشی باکتریها است؟ SS Alavi Hejazi, K Akbari Noghabi National Student Congress of Biological Sciences, 2013 | | 2013 |
| پروتئین ۵۳: ساختمان، عملکرد و ژندرمانی SS Alavi Hejazi, S Moein, N Moghadas, Z Firoozfar, Z Hojati National Student Congress of Biological Sciences, 2013 | | 2013 |
Henry HouldenProf NeurogeneticsVerified email at ucl.ac.uk
