| Loss of tubulin deglutamylase CCP 1 causes infantile‐onset neurodegeneration V Shashi, MM Magiera, D Klein, M Zaki, K Schoch, S Rudnik‐Schöneborn, ... The EMBO journal 37 (23), e100540, 2018 | 106 | 2018 |
| Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development MS Nahorski, S Maddirevula, R Ishimura, S Alsahli, AF Brady, ... Brain 141 (7), 1934-1945, 2018 | 81 | 2018 |
| The genome of the zoonotic malaria parasite Plasmodium simium reveals adaptations to host switching T Mourier, DAM de Alvarenga, A Kaushik, A de Pina-Costa, ... BMC biology 19, 1-17, 2021 | 39 | 2021 |
| Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome MJA Weerts, K Lanko, FJ Guzmán-Vega, A Jackson, R Ramakrishnan, ... Genetics in Medicine 23 (11), 2122-2137, 2021 | 23 | 2021 |
| Rapid evolution of plastic-degrading enzymes prevalent in the global ocean I Alam, N Aalismail, C Martin, A Kamau, FJ Guzmán-Vega, T Jamil, ... BioRxiv, 2020.09. 07.285692, 2020 | 20 | 2020 |
| A Novel Biallelic STING1 Gene Variant Causing SAVI in Two Siblings MA Alghamdi, J Mulla, N Saheb Sharif-Askari, FJ Guzmán-Vega, ST Arold, ... Frontiers in Immunology 11, 599564, 2021 | 19 | 2021 |
| Interleukin-26 activates macrophages and facilitates killing of Mycobacterium tuberculosis HC Hawerkamp, L van Geelen, J Korte, J Di Domizio, M Swidergall, ... Scientific reports 10 (1), 17178, 2020 | 17 | 2020 |
| Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis MI Naseer, AA Abdulkareem, FJ Guzmán-Vega, ST Arold, PN Pushparaj, ... Frontiers in genetics 11, 368, 2020 | 17 | 2020 |
| SPTBN5, Encoding the βV-Spectrin Protein, Leads to a Syndrome of Intellectual Disability, Developmental Delay, and Seizures A Khan, LP Bruno, F Alomar, M Umair, AM Pinto, AA Khan, A Khan, Saima, ... Frontiers in Molecular Neuroscience 15, 877258, 2022 | 14 | 2022 |
| MYH1 is a candidate gene for recurrent rhabdomyolysis in humans HS Alsaif, A Alshehri, RA Sulaiman, H Al‐Hindi, FJ Guzmán‐Vega, ... American Journal of Medical Genetics Part A 185 (7), 2131-2135, 2021 | 10 | 2021 |
| Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures S Alsahli, A Alfares, FJ Guzmán-Vega, ST Arold, D Ba-Armah, F Al Mutairi neurogenetics 20, 109-115, 2019 | 7 | 2019 |
| Clinical and Genetic characterization of craniosynostosis in Saudi Arabia M Alghamdi, TR Alhumsi, I Altweijri, WH Alkhamis, O Barasain, ... Frontiers in Pediatrics 9, 582816, 2021 | 6 | 2021 |
| Leveraging AI Advances and Online Tools for Structure‐Based Variant Analysis FJ Guzmán‐Vega, AC González‐Álvarez, KA Peña‐Guerra, ... Current Protocols 3 (8), e857, 2023 | 3 | 2023 |
| Expanding the genotype-phenotype landscape of PDE10A-associated movement disorders S Bohlega, AH Abusrair, Z Al-Qahtani, FJ Guzmán-Vega, ... Parkinsonism & related disorders 108, 105323, 2023 | 3 | 2023 |
| Protein function prediction as approximate semantic entailment M Kulmanov, FJ Guzmán-Vega, P Duek Roggli, L Lane, ST Arold, ... Nature Machine Intelligence 6 (2), 220-228, 2024 | 2 | 2024 |
| An open-source, automated, and cost-effective platform for COVID-19 diagnosis and rapid portable genomic surveillance using nanopore sequencing G Ramos-Mandujano, R Grünberg, Y Zhang, C Bi, FJ Guzmán-Vega, ... Scientific Reports 13 (1), 20349, 2023 | 2 | 2023 |
| Deepgo-se: Protein function prediction as approximate semantic entailment M Kulmanov, FJ Guzmán-Vega, P Duek Roggli, L Lane, ST Arold, ... bioRxiv, 2023.09. 26.559473, 2023 | 2 | 2023 |
| Novel homozygous variants of slc13a5 expand the functional heterogeneity of a homogeneous syndrome of early infantile epileptic encephalopathy A Alsemari, FJ Guzmán-Vega, BF Meyer, ST Arold Pediatric Neurology 151, 68-72, 2024 | 1 | 2024 |
| Alphacrv: A pipeline for identifying accurate binder topologies in mass-modeling with alphafold FJ Guzman-Vega, ST Arold bioRxiv, 2024.02. 07.578780, 2024 | 1 | 2024 |
| Large Scale Approaches for Protein Research with Machine Learning-Enabled Bioinformatic Tools FJ Guzmán-Vega | | 2024 |
