Susan E. Holder

London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 24 publications

Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.

Expanding the phenotypic spectrum associated with ZIC1 variants: A neurodevelopmental disorder with and without craniosynostosis.

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

Published: September 16, 2025

Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.

Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.

Journal: European journal of human genetics : EJHG

Published: February 06, 2023

The Phenotypic Continuum of ATP1A3-Related Disorders.

The Phenotypic Continuum of ATP1A3-Related Disorders.

Journal: Neurology

Published: December 13, 2021

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.

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

Published: June 09, 2020

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

Journal: American journal of human genetics

Published: April 06, 2019

The clinical presentation caused by truncating CHD8 variants.

The clinical presentation caused by truncating CHD8 variants.

Journal: Clinical genetics

Published: February 21, 2019

The protean manifestations of RASA1 gene mutation.

The protean manifestations of RASA1 gene mutation.

Journal: Clinical and experimental dermatology

Published: November 15, 2018

Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes.

Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes.

Journal: Archives of disease in childhood

Published: November 14, 2018

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism.

Journal: American journal of human genetics

Published: October 10, 2018

Uniparental disomy as a mechanism for CERS3-mutated autosomal recessive congenital ichthyosis.

Uniparental disomy as a mechanism for CERS3-mutated autosomal recessive congenital ichthyosis.

Journal: The British journal of dermatology

Published: July 15, 2018

Ultrasound diagnosis of bilateral cataracts in a fetus with possible cerebro-ocular congential muscular dystrophy during the routine second trimester anomaly scan.

Ultrasound diagnosis of bilateral cataracts in a fetus with possible cerebro-ocular congential muscular dystrophy during the routine second trimester anomaly scan.

Journal: Ultrasound (Leeds, England)

Published: July 20, 2016

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.

BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription.

Journal: American journal of human genetics

Published: March 29, 2016

Showing 1-12 of 24

Last Updated: 09/26/2026