José Miguel Lezana Rosales
Hospital Universitario 12 De Octubre(ES)
Publications by Year
Research Areas
Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Genomics and Rare Diseases, Alzheimer's disease research and treatments, Autism Spectrum Disorder Research
Most-Cited Works
- → Differential effects of antiretrovirals on microbial translocation and gut microbiota composition of HIV‐infected patients(2017)128 cited
- → Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test(2021)50 cited
- → New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome cases are caused by the presence of a nonsense variant in compound heterozygosity with the pathogenic repeat expansion in the RFC1 gene(2022)24 cited
- → Characterization of gut microbiota composition in HIV-infected patients with metabolic syndrome(2019)24 cited
- → Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2(2021)20 cited
- → Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice(2023)17 cited
- → Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients(2018)16 cited
- → First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center(2021)15 cited
- → Cystic phenotype and chronic kidney disease in autosomal dominant Alport syndrome(2024)13 cited
- → Heterozygous and Homozygous Variants in SORL1 Gene in Alzheimer’s Disease Patients: Clinical, Neuroimaging and Neuropathological Findings(2022)12 cited