Emma Mccann

Liverpool, 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

BCL11B-related disease: a single phenotypic entity?

BCL11B-related disease: a single phenotypic entity?

Journal: European journal of human genetics : EJHG

Published: October 05, 2024

Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis.

Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis.

Journal: Journal of anatomy

Published: February 13, 2024

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.

The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.

Journal: Human genetics

Published: December 14, 2023

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: July 30, 2023

Genomic testing in patients with renal disease.

Genomic testing in patients with renal disease.

Journal: British journal of hospital medicine (London, England : 2005)

Published: July 25, 2023

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 Role of Airway Management on Feeding Difficulties in Children With Pfeiffer Syndrome.

The Role of Airway Management on Feeding Difficulties in Children With Pfeiffer Syndrome.

Journal: The Journal of craniofacial surgery

Published: September 24, 2022

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy.

Journal: Brain : a journal of neurology

Published: February 14, 2022

Inner Ear Anomalies in Children With Apert Syndrome: A Radiological and Audiological Analysis.

Inner Ear Anomalies in Children With Apert Syndrome: A Radiological and Audiological Analysis.

Journal: The Journal of craniofacial surgery

Published: December 28, 2021

Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.

Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.

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

Published: April 12, 2021

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.

Journal: American journal of human genetics

Published: July 01, 2020

Showing 1-12 of 24

Last Updated: 09/26/2026