Helen Lord

Oxford, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 13 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

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

Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis.

Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis.

Journal: Journal of medical genetics
Published: January 17, 2023

Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 09, 2020

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 06, 2020

ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.

ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.

Journal: American journal of medical genetics. Part A
Published: September 25, 2018

A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.

A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.

Journal: European journal of human genetics : EJHG
Published: September 26, 2017

Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.

Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.

Journal: Human molecular genetics
Published: December 07, 2016

Diagnostic value of exome and whole genome sequencing in craniosynostosis.

Diagnostic value of exome and whole genome sequencing in craniosynostosis.

Journal: Journal of medical genetics
Published: August 24, 2016

Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.

Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.

Journal: BMC medical genetics
Published: June 09, 2014

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.

Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.

Journal: Nature genetics
Published: July 10, 2012

Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis.

Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis.

Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
Published: November 26, 2011
Showing 1-12 of 13

Last Updated: 09/26/2026