María Palomares‐Bralo

ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodes

This study identifies ARID5B mutations as a cause of a neurodevelopmental syndrome with neuroinflammation episodes and describes clinical and functional consequences.

Characterization of snRNA-related neurodevelopmental disorders through the Spanish Undiagnosed Rare Disease Programs

The paper identifies de novo pathogenic variants in snRNA genes causing neurodevelopmental disorders in patients from the Spanish URD Programs.

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder

This study identifies ZFHX4 loss-of-function variants as a cause of a neurodevelopmental disorder with distinctive facial features and brain abnormalities, supported by zebrafish models.

A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene

This paper identifies loss-of-function variants in ZFHX3 as a cause of syndromic intellectual disability and describes its role in chromatin remodeling and DNA methylation.

Expanding the phenotypic spectrum of TRAF7 syndrome: report of eleven new cases and literature review.

This paper reports eleven new TRAF7 syndrome cases, expands the phenotypic spectrum, and highlights clinical complications requiring tailored management.

Clinical description, molecular delineation, and genotype-phenotype correlation in KBG syndrome: 67 new patients and review of the literature.

This paper describes the clinical and molecular features of 67 new KBG syndrome patients, identifies genotype-phenotype correlations, and proposes updated diagnostic criteria.