| Structure and evolution of the filaggrin gene repeated region in primates V Romero, K Hosomichi, H Nakaoka, H Shibata, I Inoue BMC Evolutionary Biology 17, 1-13, 2017 | 16 | 2017 |
| Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International D Taruscio, M Salvatore, A Lumaka, C Carta, L Cellai, G Ferrari, ... Frontiers in Public Health 11, 587, 2023 | 13 | 2023 |
| High order formation and evolution of hornerin in primates V Romero, H Nakaoka, K Hosomichi, I Inoue Genome Biology and Evolution 10 (12), 3167-3175, 2018 | 10 | 2018 |
| Primary ciliary dyskinesia diagnosis and management and its implications in America: a mini review VIR M. Castillo, E. Freire Frontiers in Pediatrics 11 (Sec. Pediatric Pulmonology), 2023 | 5 | 2023 |
| The limits of clinical findings in similar phenotypes, from Carpenter to ATRX syndrome using a whole exome sequencing approach: a case review SS Sáenz, B Arias, K Hosomichi, VI Romero Human Genomics 15, 1-6, 2021 | 5 | 2021 |
| Risk HLA alleles in South America and potential new epitopes for SARS-CoV2 SS Hinojosa, V Romero Human immunology 82 (8), 561-567, 2021 | 5 | 2021 |
| Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators Front. Public Health, 2023 | 4 | 2023 |
| COL1A1 novel splice variant in osteogenesis imperfecta and splicing variants review: A case report M Dirani, VD Cuenca, VI Romero Frontiers in Surgery 9, 986372, 2022 | 4 | 2022 |
| NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome SA VI Romero, B Arias-Almedia BMC Genomics, 2022 | 3 | 2022 |
| Carta al editor: Progresos genéticos y genómicos en el cáncer de mama VI Romero Metrociencia 30 (2), 88-91, 2022 | 2* | 2022 |
| Novel Variation in Acyl-CoA Synthetase Long Chain Family Member 6 (ACSL6) Results in Protein Structural Modification and Multiple Non-Related Neoplasia in a 46-Year-Old: Case … MI Castillo, E Freire, VI Romero, B Arias-Almeida, C Reyes, K Hosomichi Frontiers in Oncology 12, 899579, 2022 | 2 | 2022 |
| Novel SRY-Box Transcription Factor 9 variation in campomelic dysplasia and location of the reported missense and nonsense variant along the protein domains: Case report CA Calvache, EC Vásquez, VI Romero, K Hosomichi, JC Pozo-Palacios Frontiers in Pediatrics, 2007, 2022 | 2* | 2022 |
| Diagnosis challenges in CHARGE syndrome: A novel variant and clinical description VIR Samantha Saenz Hinojosa, Carlos Reyes Heliyon, 2024 | 1 | 2024 |
| TTN Novel Splice Variant in Familial Dilated Cardiomyopathy and Splice Variants Review: A Case Report P León, P Franco, N Hinojosa, K Torres, A Moreano, VI Romero Frontiers in Cardiovascular Medicine 11, 1387063, 2024 | 1 | 2024 |
| A toddler with phylloid-type pigmentary mosaicism and ambiguous genitalia resulting from trisomy 14 induced by a der (Y) t (Y; 14) VI Romero, JC Pozo, S Saenz, A Llamos-Paneque, T Liehr, K Hosomichi, ... Human genome variation 7 (1), 28, 2020 | 1 | 2020 |
| Clinical description of a homozygous Lys 1169* variant in the DYSF gene associated with autosomal recessive Miyoshi muscular dystrophy type 1: A familial case report AS Aguirre, VI Romero Heliyon 10 (15), 2024 | | 2024 |
| Navigating phenylketonuria management to improve it in Latin America: a systematic literature review and applicability analysis AS Aguirre, E Haro, A Campodónico, A Mendoza, B Bahamonde, ... Frontiers in Nutrition 11, 1390133, 2024 | | 2024 |
| AARS and CACNA1A mutations: diagnostic insights into a case report of uncommon epileptic encephalopathy phenotypes in two siblings VI Romero, S Sáenz, B Arias-Almeida, D DiCapua, K Hosomichi Frontiers in Neurology 15, 1376643, 2024 | | 2024 |
| HLA allelic diversity in the Waorani population of Ecuador: Its significance to their ancestry and migration VIR Samantha Saenz Hinojosa, Timothy Adrian Jinam, Kazuyoshi Hosomichi Human Immunology, 2024 | | 2024 |
| Novel ribosomal protein L26 variant and modeling in a patient with Diamond–Blackfan anemia: Case report D Peñaloza, D Paredes, B Arias‐Almeida, K Hosomichi, C Reyes, ... Pediatric Blood & Cancer 70 (9), e30368, 2023 | | 2023 |
Kazuyoshi HosomichiLaboratory of Computational Genomics, Tokyo University of Pharmacy and Life SciencesVerified email at toyaku.ac.jp
