Franco G. Brunello

Buenos Aires, C, Argentina

Last Updated: 09/26/2026

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Found 11 publications

A structure and function-based complete mutational map of human hemoglobin using AI.

A structure and function-based complete mutational map of human hemoglobin using AI.

Journal: Frontiers in chemistry
Published: April 22, 2026

Double heterozygous PROK2 p.(Ile55Ter)-PROKR2 p.(Arg85Leu) variants: case report of an oligogenic case of congenital hypogonadotropic hypogonadism with anosmia.

Double heterozygous PROK2 p.(Ile55Ter)-PROKR2 p.(Arg85Leu) variants: case report of an oligogenic case of congenital hypogonadotropic hypogonadism with anosmia.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
Published: December 17, 2025

Updated compendium of genes and variants associated with congenital hypogonadotropic hypogonadism: systematic review, classification pipeline, and network analysis.

Updated compendium of genes and variants associated with congenital hypogonadotropic hypogonadism: systematic review, classification pipeline, and network analysis.

Journal: Human molecular genetics
Published: October 10, 2025

Integrating AlphaFold2 models and clinical data to improve the assessment of Short Linear Motifs (SLiMs) and their variants' pathogenicity.

Integrating AlphaFold2 models and clinical data to improve the assessment of Short Linear Motifs (SLiMs) and their variants' pathogenicity.

Journal: PLoS computational biology
Published: January 24, 2025

Study of the impact of ClinGen Revisions on ACMG/AMP variant semi-automatic classification for Rare Diseases diagnosis.

Study of the impact of ClinGen Revisions on ACMG/AMP variant semi-automatic classification for Rare Diseases diagnosis.

Journal: Clinica chimica acta; international journal of clinical chemistry
Published: October 17, 2024

T and NK cell functionality in a patient harboring heterozygous novel BCL11B p.Asp632fsAla∗91 and STX11 p.R129P mutations.

T and NK cell functionality in a patient harboring heterozygous novel BCL11B p.Asp632fsAla∗91 and STX11 p.R129P mutations.

Journal: Heliyon
Published: September 20, 2024

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.

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.

Journal: Human reproduction (Oxford, England)
Published: August 19, 2024

Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report.

Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report.

Journal: Frontiers in pediatrics
Published: March 01, 2022

MotSASi: Functional short linear motifs (SLiMs) prediction based on genomic single nucleotide variants and structural data.

MotSASi: Functional short linear motifs (SLiMs) prediction based on genomic single nucleotide variants and structural data.

Journal: Biochimie
Published: August 27, 2021

Diagnosis of Male Central Hypogonadism During Childhood.

Diagnosis of Male Central Hypogonadism During Childhood.

Journal: Journal of the Endocrine Society
Published: July 26, 2021

AMH and AMHR2 Involvement in Congenital Disorders of Sex Development.

AMH and AMHR2 Involvement in Congenital Disorders of Sex Development.

Journal: Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
Published: March 03, 2021
Showing 1-11 of 11

Last Updated: 09/26/2026