Jair Tenorio

Universidade de São Paulo — Brazil

Medicine · Health Sciences

33h-index3.8kcitations193works1.32yr avg
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Research Topics

Pulmonary Hypertension Research and Treatments(47), Genetic Syndromes and Imprinting(28), Genomic variations and chromosomal abnormalities(24), Genomics and Rare Diseases(20), Epigenetics and DNA Methylation(17)

Publications185 total

Case Report: Autosomal recessive palmoplantar keratoderma with additional bilateral hearing loss due to a pathogenic frameshift deletion in FAM83G
Frontiers in Medicine·2025Open Access
Epilepsy in Wolf–Hirschhorn Syndrome: Clinical Insights from a Pediatric Cohort and a Review of the Literature
Journal of Clinical Medicine·2025Open Access
Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases
UNC Libraries·2025Open Access
Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases
EBioMedicine·2025· 1 citedOpen Access
Highly variable genomic methylation in the Beckwith-Wiedemann syndrome associated with multi-locus imprinting disturbances
Clinical Epigenetics·2025· 1 citedOpen Access
N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder
European Journal of Human Genetics·2025· 1 citedOpen Access
Characterization of snRNA-related neurodevelopmental disorders through the Spanish Undiagnosed Rare Disease Programs
2025· 1 citedOpen Access
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
The American Journal of Human Genetics·2025Open Access
Pulmonary arterial hypertension associated with exposure to toxic rapeseed oil
ERJ Open Research·2025· 2 citedOpen Access
Clinician-Based Functional Scoring and Genomic Insights for Prognostic Stratification in Wolf–Hirschhorn Syndrome
Genes·2025· 1 citedOpen Access
Highly variable genomic methylation in the Beckwith-Wiedemann syndrome associated with Multi-Locus Imprinting Disturbances
2025Open Access
Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range
The American Journal of Human Genetics·2025· 2 citedOpen Access
Genotype–Phenotype Associations in Phelan–McDermid Syndrome: Insights into Novel Genes Beyond SHANK3
International Journal of Molecular Sciences·2025· 2 citedOpen Access
Identification of a De Novo Heterozygous Frameshift Variant in <scp>FMR1</scp> in a Female With Fragile X Syndrome
Clinical Genetics·2025
Investigation of Multilocus Imprinting Disturbance (MLID) in 101 Beckwith-Wiedemann Spectrum patients
2025Open Access
CONSTRUÇÃO DO JOGO “IMUNIZAMENTE” COMO FERRAMENTA PARA A EDUCAÇÃO EM SAÚDE: UM RELATO DE EXPERIÊNCIA
Editora Pasteur eBooks·2025
Author response for "Identification of a De Novo Heterozygous Frameshift Variant in &lt;scp&gt;FMR1&lt;/scp&gt; in a Female With Fragile X Syndrome"
2025
A Novel Deep Intronic Variant in <scp><i>NSD1</i></scp> Causing Sotos Syndrome
American Journal of Medical Genetics Part A·2025· 1 cited
Development of a k-Nearest Neighbors Model for the Prediction of Late-Onset Alzheimer’s Risk by Combining Polygenic Risk Scores and Phenotypic Variables
Genes·2025Open Access
Family well-being in families with children and young people with Wolf-Hirschhorn Syndrome
Research in Developmental Disabilities·2025· 2 citedOpen Access
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Frequent Co-authors

Pablo Lapunzina(43), Pedro Arias(17), Julián Nevado(17), Pilar Escribano Subías(13), Gema Gordo(11), Fernando Santos‐Simarro(10), Víctor L. Ruiz‐Pérez(9), Sixto García‐Miñáur(9), Irene Dapía(8), Víctor Martínez‐Glez(7), David Monk(7), María Palomares‐Bralo(7), Mauro Lago‐Docampo(6), Ignacio Hernández‐González(6), Diana Valverde(6), Natalia Gallego(6), Frédéric Brioude(5), Jet Bliek(5), Silvia Russo(5), Irène Netchine(5)