Publications by authors named "Helen Lord"

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Impact of rapid genomic testing on clinical outcomes of acutely unwell children presenting with severe epilepsy.
Erina Sasaki, Philip Millington, Taisiia Sazonova, Lucy Hanington, Andrew Parrish, Helen Lord

Eur J Hum Genet· October 2025

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Time to consider social care nursing as the fifth field of practice.
Sarah McRae, Margot Whittaker, Michelle Howarth, Shaun Kershaw, Kate Knight, Helen Lord

Br J Nurs· June 2024

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Homozygous variants in two unrelated patients with craniosynostosis and radioulnar synostosis.
Ilse Luyckx, Isaac Scott Walton, Nele Boeckx, Kristof Van Schil, Chingyiu Pang, Helen Lord

J Med Genet· March 2024

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SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Eduardo Calpena, Araceli Cuellar, Krithi Bala, Sigrid M A Swagemakers, Nils Koelling, Helen Lord

Genet Med· September 2020

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Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Eduardo Calpena, Araceli Cuellar, Krithi Bala, Sigrid M A Swagemakers, Nils Koelling, Helen Lord

Genet Med· September 2020

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Exploring health and social care professionals' initial perceptions of caring for trans patients.
Martina Inessa Kirlew, Helen Lord, Joey Weber

Nurs Stand· May 2020

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ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.
Graeme E Glass, Justine O'Hara, Natalie Canham, Deirdre Cilliers, David Dunaway, Helen Lord

Am J Med Genet A· April 2019

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A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplication.
Amina Al-Yassin, Alistair D Calder, Mike Harrison, Tracy Lester, Helen Lord

Eur J Hum Genet· September 2018

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Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.
Sharon Kim, Stephen R F Twigg, Victoria A Scanlon, Aditi Chandra, Tyler J Hansen, Helen Lord

Hum Mol Genet· June 2017

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Diagnostic value of exome and whole genome sequencing in craniosynostosis.
Kerry A Miller, Stephen R F Twigg, Simon J McGowan, Julie M Phipps, Aimée L Fenwick, Helen Lord

J Med Genet· April 2017

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Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.
Aimee L Fenwick, Jacqueline A C Goos, Julia Rankin, Helen Lord, Tracy Lester

BMC Med Genet· August 2014

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Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.
Stephen R F Twigg, Elena Vorgia, Simon J McGowan, Ioanna Peraki, Aimée L Fenwick, Helen Lord

Nat Genet· March 2013

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Pure de novo partial trisomy 6p in a girl with craniosynostosis.
Konstantinos Varvagiannis, Amalia Stefanidou, Yolanda Gyftodimou, Helen Lord, Louise Williams

Am J Med Genet A· February 2013

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Atypical Crouzon syndrome with a novel Cys62Arg mutation in FGFR2 presenting with sagittal synostosis.
Vikram P Sharma, Steven A Wall, Helen Lord, Tracy Lester, Andrew O M Wilkie

Cleft Palate Craniofac J· May 2012

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Germline and somatic mosaicism for FGFR2 mutation in the mother of a child with Crouzon syndrome: Implications for genetic testing in "paternal age-effect" syndromes.
Anne Goriely, Helen Lord, Jasmine Lim, David Johnson, Tracy Lester

Am J Med Genet A· August 2010

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