Fabiola P. Monteiro

Sao Paulo, SP, Brazil

Last Updated: 09/26/2026

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Found 29 publications

Unbalanced chromatin binding of Polycomb complexes drives neurodevelopmental disorders.

Unbalanced chromatin binding of Polycomb complexes drives neurodevelopmental disorders.

Journal: Molecular cell

Published: February 28, 2025

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.

Journal: HGG advances

Published: September 22, 2024

Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature.

Expanding the spectrum of phenotypes for MPDZ: Report of four unrelated families and review of the literature.

Journal: Clinical genetics

Published: February 22, 2024

Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.

Bi-allelic variants in WDR47 cause a complex neurodevelopmental syndrome.

Journal: EMBO molecular medicine

Published: January 09, 2024

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 07, 2023

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.

Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles.

Journal: HGG advances

Published: October 20, 2023

Correspondence on "A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes" by Seaby et al.

Correspondence on "A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes" by Seaby et al.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 13, 2022

Early role for a Na+,K+-ATPase (ATP1A3) in brain development.

Early role for a Na+,K+-ATPase (ATP1A3) in brain development.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: June 23, 2021

Corrigendum to "Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: Two new cases and review of the literature" [Brain Dev. 42(2) (2020) 211-216].

Corrigendum to "Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: Two new cases and review of the literature" [Brain Dev. 42(2) (2020) 211-216].

Journal: Brain & development

Published: February 20, 2021

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

Journal: American journal of human genetics

Published: December 07, 2020

MECP2-related conditions in males: A systematic literature review and 8 additional cases.

MECP2-related conditions in males: A systematic literature review and 8 additional cases.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: September 28, 2020

Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay.

Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 26, 2020

Showing 1-12 of 29

Last Updated: 09/26/2026