Ruth A. Ecob-Newbury

Southwell St
Bristol, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 55 publications

Activating PRKG1 Variant Enhances Smooth Muscle Cell Deformability to Cause Aortopathy.

Activating PRKG1 Variant Enhances Smooth Muscle Cell Deformability to Cause Aortopathy.

Journal: JACC. Basic to translational science

Published: August 23, 2025

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.

Journal: European journal of human genetics : EJHG

Published: April 02, 2025

A tandem duplication of exon 42 of the DMD gene is a likely benign variant.

A tandem duplication of exon 42 of the DMD gene is a likely benign variant.

Journal: Journal of medical genetics

Published: May 31, 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

RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront.

RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront.

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

Published: March 06, 2024

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.

Journal: Genetics in medicine open

Published: November 14, 2023

Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.

Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.

Journal: Journal of medical genetics

Published: March 12, 2023

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.

Journal: Brain : a journal of neurology

Published: June 28, 2022

De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.

De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder.

Journal: Human mutation

Published: January 27, 2022

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.

Journal: American journal of human genetics

Published: October 19, 2020

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants.

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

Published: August 21, 2020

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.

Comprehensive study of 28 individuals with SIN3A-related disorder underscoring the associated mild cognitive and distinctive facial phenotype.

Journal: European journal of human genetics : EJHG

Published: May 28, 2020

Showing 1-12 of 55

Last Updated: 09/26/2026