Ana V. Krepischi

Sao Paulo, SP 05508090, Brazil

Last Updated: 09/26/2026

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Found 46 publications

DDX3X is a Cl--sensitive RNA helicase.

DDX3X is a Cl--sensitive RNA helicase.

Journal: Science signaling

Published: March 24, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: American journal of human genetics

Published: February 15, 2026

Exome sequencing of patients with syndromic tall stature reveals four novel candidate genes.

Exome sequencing of patients with syndromic tall stature reveals four novel candidate genes.

Journal: Endocrine connections

Published: March 10, 2025

"SHANK3 deficiency alters early progenitor dynamics and reveals shared pathways with neurodegeneration".

"SHANK3 deficiency alters early progenitor dynamics and reveals shared pathways with neurodegeneration".

Journal: Molecular psychiatry

Published: December 11, 2024

Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries.

Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries.

Journal: American journal of medical genetics. Part A

Published: April 08, 2024

Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting.

Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting.

Journal: Annals of human genetics

Published: June 05, 2023

Rhabdomyosarcoma Associated with Core Myopathy/Malignant Hyperthermia: Combined Effect of Germline Variants in RYR1 and ASPSCR1 May Play a Role.

Rhabdomyosarcoma Associated with Core Myopathy/Malignant Hyperthermia: Combined Effect of Germline Variants in RYR1 and ASPSCR1 May Play a Role.

Journal: Genes

Published: May 26, 2023

High-Resolution Magic-Angle-Spinning NMR in Revealing Hepatoblastoma Hallmarks.

High-Resolution Magic-Angle-Spinning NMR in Revealing Hepatoblastoma Hallmarks.

Journal: Biomedicines

Published: November 02, 2022

Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature.

Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature.

Journal: Endocrine connections

Published: October 04, 2022

Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 Microdeletion.

Expanding the Phenotype of 8p23.1 Deletion Syndrome: Eight New Cases Resembling the Clinical Spectrum of 22q11.2 Microdeletion.

Journal: The Journal of pediatrics

Published: April 07, 2022

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Last Updated: 09/26/2026