Publications by authors named "F Brunello"

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Integrating AlphaFold2 models and clinical data to improve the assessment of Short Linear Motifs (SLiMs) and their variants' pathogenicity.
Franco Gino Brunello, Lorenzo Erra, Juan Nicola, Marcelo Adrián Martí

PLoS Comput Biol· August 2025

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Clinical presentation of congenital hypogonadotropic hypogonadism in males with delayed puberty according to genetic etiology: a systematic review and meta-analysis after reclassification of gene variants.
Sebastián Castro, Franco G Brunello, Gabriela Sansó, Agustín Izquierdo, Jonathan Zaiat

Hum Reprod· May 2025

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Corrigendum to Cortical Gyrification Is Associated With the Clinical Phenotype in Tuberous Sclerosis Complex [Pediatric Neurology, Volume 161, December 2024, Pages 170-175].
Nicolò Trevisan, Francesco Brunello, Fabio Sambataro, Gaia Biscalchin, Margherita Nosadini

Pediatr Neurol· April 2025

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T and NK cell functionality in a patient harboring heterozygous novel BCL11B p.Asp632fsAla∗91 and STX11 p.R129P mutations.
Lorenzo Erra, Ana Colado, Franco Gino Brunello, Emma Prieto, Verónica Goris

Heliyon· February 2025

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Study of the impact of ClinGen Revisions on ACMG/AMP variant semi-automatic classification for Rare Diseases diagnosis.
Ana Rius, Nicolas Aguirre, Lorenzo Erra, Franco Gino Brunello, German Biagioli

Clin Chim Acta· January 2025

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