Anna Ruiz

Sabadell, CT, Spain

Last Updated: 09/26/2026

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Found 27 publications

Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management.

Expanding the repertoire of loss-of-function variants in HACE1 causing complex spastic paraplegia: literature review and recommendations on clinical management.

Journal: Human genomics

Published: August 06, 2025

Anxiety disorder is a common psychopathological comorbidity in patients with SHANK pathogenic variants: description of five new cases.

Anxiety disorder is a common psychopathological comorbidity in patients with SHANK pathogenic variants: description of five new cases.

Journal: BMC psychiatry

Published: May 16, 2025

A Novel RHEB Germline Variant Associated With Intellectual Disability and Epilepsy: Expanding the Spectrum of mTORopathies.

A Novel RHEB Germline Variant Associated With Intellectual Disability and Epilepsy: Expanding the Spectrum of mTORopathies.

Journal: Clinical genetics

Published: December 16, 2024

Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.

Comprehensive Clinical and Genetic Characterization of a Spanish Cohort of 22 Patients With Bainbridge-Ropers Syndrome.

Journal: Clinical genetics

Published: October 02, 2024

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.

Journal: American journal of human genetics

Published: August 27, 2024

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability.

Journal: American journal of human genetics

Published: July 22, 2024

Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.

Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.

Journal: American journal of human genetics

Published: June 20, 2024

Further delineation of the SCAF4-associated neurodevelopmental disorder.

Further delineation of the SCAF4-associated neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: April 23, 2024

SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population.

SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population.

Journal: Database : the journal of biological databases and curation

Published: April 02, 2024

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.

Novel 14q32.2 paternal deletion encompassing the whole DLK1 gene associated with Temple syndrome.

Journal: Clinical epigenetics

Published: October 12, 2023

Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome.

Case report: Identification of a novel variant p.Gly215Arg in the CHN1 gene causing Moebius syndrome.

Journal: Frontiers in genetics

Published: September 08, 2023

High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.

High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.

Journal: Genes

Published: February 16, 2023

Showing 1-12 of 27

Last Updated: 09/26/2026