Muriel Espinasse-Holder

London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 66 publications

Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing?

Is There Potential Clinical Utility in Reporting Variants of Uncertain Significance From Prenatal Sequencing?

Journal: Prenatal diagnosis

Published: February 03, 2026

Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.

Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.

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

Published: December 11, 2025

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders.

Journal: American journal of human genetics

Published: April 07, 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

Post-Axial Polydactyly and Postnatal Pulmonary Stenosis Observed With a SPRED1 Pathogenic Variant.

Post-Axial Polydactyly and Postnatal Pulmonary Stenosis Observed With a SPRED1 Pathogenic Variant.

Journal: Prenatal diagnosis

Published: April 02, 2025

CHIME Syndrome in a Child With Homozygous PIGL p.Leu167Pro Variant.

CHIME Syndrome in a Child With Homozygous PIGL p.Leu167Pro Variant.

Journal: American journal of medical genetics. Part A

Published: September 23, 2024

The Challenges of Performing Exome Sequencing in Structurally Normal Fetuses.

The Challenges of Performing Exome Sequencing in Structurally Normal Fetuses.

Journal: Prenatal diagnosis

Published: July 05, 2024

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy.

Journal: American journal of human genetics

Published: June 18, 2024

Advances and Challenges in Prenatal Detection and Genetic Diagnosis of Upper Limb Anomalies: Analysis of a South London and Kent Cohort.

Advances and Challenges in Prenatal Detection and Genetic Diagnosis of Upper Limb Anomalies: Analysis of a South London and Kent Cohort.

Journal: Prenatal diagnosis

Published: June 14, 2024

Prenatal detection of copy number variants.

Prenatal detection of copy number variants.

Journal: Best practice & research. Clinical obstetrics & gynaecology

Published: April 30, 2024

Eiken syndrome with parathyroid hormone resistance due to a novel parathyroid hormone receptor type 1 mutation: clinical features and functional analysis.

Eiken syndrome with parathyroid hormone resistance due to a novel parathyroid hormone receptor type 1 mutation: clinical features and functional analysis.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: April 20, 2024

Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.

Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.

Journal: Frontiers in genetics

Published: March 15, 2024

Showing 1-12 of 66

Last Updated: 09/26/2026