Jonathan J. Zaiat

Buenos Aires, C C1428EHA, Argentina

Last Updated: 09/26/2026

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Found 12 publications

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

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

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

Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes.

Exome Sequencing Has a High Diagnostic Rate in Sporadic Congenital Hypopituitarism and Reveals Novel Candidate Genes.

Journal: The Journal of clinical endocrinology and metabolism
Published: February 08, 2024

Assessing the hidden diversity underlying consensus sequences of SARS-CoV-2 using VICOS, a novel bioinformatic pipeline for identification of mixed viral populations.

Assessing the hidden diversity underlying consensus sequences of SARS-CoV-2 using VICOS, a novel bioinformatic pipeline for identification of mixed viral populations.

Journal: Virus research
Published: November 07, 2022

Human Y chromosome sequences from Q Haplogroup reveal a South American settlement pre-18,000 years ago and a profound genomic impact during the Younger Dryas.

Human Y chromosome sequences from Q Haplogroup reveal a South American settlement pre-18,000 years ago and a profound genomic impact during the Younger Dryas.

Journal: PloS one
Published: November 15, 2021

Cost-Effective Method to Perform SARS-CoV-2 Variant Surveillance: Detection of Alpha, Gamma, Lambda, Delta, Epsilon, and Zeta in Argentina.

Cost-Effective Method to Perform SARS-CoV-2 Variant Surveillance: Detection of Alpha, Gamma, Lambda, Delta, Epsilon, and Zeta in Argentina.

Journal: Frontiers in medicine
Published: August 08, 2021

Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing.

Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing.

Journal: Ophthalmic genetics
Published: February 18, 2021

An optimized methodology for whole genome sequencing of RNA respiratory viruses from nasopharyngeal aspirates.

An optimized methodology for whole genome sequencing of RNA respiratory viruses from nasopharyngeal aspirates.

Journal: PloS one
Published: April 12, 2018

Corrigendum: Germline hypomorphic CARD11 mutations in severe atopic disease.

Corrigendum: Germline hypomorphic CARD11 mutations in severe atopic disease.

Journal: Nature genetics
Published: October 28, 2017

Germline hypomorphic CARD11 mutations in severe atopic disease.

Germline hypomorphic CARD11 mutations in severe atopic disease.

Journal: Nature genetics
Published: December 04, 2016

Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder.

Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder.

Journal: PloS one
Published: June 06, 2014
Showing 1-12 of 12

Last Updated: 09/26/2026