Charlotte A. Sturrock-Sherlaw

Birmingham, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 10 publications

STAG1 developmental disorder associated with acute lymphoblastic leukaemia: a case report.

STAG1 developmental disorder associated with acute lymphoblastic leukaemia: a case report.

Journal: Clinical dysmorphology

Published: August 20, 2025

DDIAS shields single-stranded DNA in mitosis and promotes vertebrate brain development.

DDIAS shields single-stranded DNA in mitosis and promotes vertebrate brain development.

Journal: Cell

Published: June 30, 2025

Identification of a Non-Coding Causative Variant Underlying Warsaw Breakage Syndrome Using Long-Read Based Genomic Sequencing and Transcriptome Analysis.

Identification of a Non-Coding Causative Variant Underlying Warsaw Breakage Syndrome Using Long-Read Based Genomic Sequencing and Transcriptome Analysis.

Journal: American journal of medical genetics. Part A

Published: May 20, 2025

Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsy.

Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsy.

Journal: European journal of human genetics : EJHG

Published: November 26, 2024

Rapid exome sequencing in critically ill children impacts acute and long-term management of patients and their families: A retrospective regional evaluation.

Rapid exome sequencing in critically ill children impacts acute and long-term management of patients and their families: A retrospective regional evaluation.

Journal: European journal of medical genetics

Published: February 07, 2022

PIEZO2-related distal arthrogryposis type 5: Longitudinal follow-up of a three-generation family broadens phenotypic spectrum, complications, and health surveillance recommendations for this patient group.

PIEZO2-related distal arthrogryposis type 5: Longitudinal follow-up of a three-generation family broadens phenotypic spectrum, complications, and health surveillance recommendations for this patient group.

Journal: American journal of medical genetics. Part A

Published: January 21, 2022

Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients.

Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients.

Journal: European journal of medical genetics

Published: January 11, 2022

Dysmorphism and immunodeficiency - One of the differential diagnoses is PAX1 related otofaciocervical syndrome type 2.

Dysmorphism and immunodeficiency - One of the differential diagnoses is PAX1 related otofaciocervical syndrome type 2.

Journal: European journal of medical genetics

Published: January 06, 2022

Xq21.1q21.31 Duplication in Two Male Siblings.

Xq21.1q21.31 Duplication in Two Male Siblings.

Journal: Molecular syndromology

Published: March 07, 2021

A case report of trisomy 17 mosaicism: PMP22 gene duplication as a result of trisomy 17 associated with Charcot-Marie-Tooth disease.

A case report of trisomy 17 mosaicism: PMP22 gene duplication as a result of trisomy 17 associated with Charcot-Marie-Tooth disease.

Journal: Clinical dysmorphology

Published: November 06, 2019

Showing 1-10 of 10

Last Updated: 09/26/2026