Publications by authors named "Steven A Wall"

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A European Multicenter Outcome Study of Perioperative Airway Management Policies following Midface Surgery in Syndromic Craniosynostosis.
Iris E Cuperus, Irene M J Mathijssen, Marie-Lise C van Veelen, Anouar Bouzariouh, Ingrid Stubelius, Steven A Wall

Plast Reconstr Surg· December 2024

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Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis.
Isaac S Walton, Emma McCann, Astrid Weber, Jenny E V Morton, Peter Noons, Steven A Wall

J Anat· December 2024

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Regulatory elements in (7q21.3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related traits.
Paola Nicoletti, Samreen Zafer, Lital Matok, Inbar Irron, Meidva Patrick, Steven A Wall

Genet Med Open· May 2024

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Pathogenic variants in the paired-related homeobox 1 gene (PRRX1) cause craniosynostosis with incomplete penetrance.
Rebecca S Tooze, Kerry A Miller, Sigrid M A Swagemakers, Eduardo Calpena, Simon J McGowan, Steven A Wall

Genet Med· September 2023

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Neoforehead Remodelling Techniques for Fronto-Orbital Advancement and Remodelling in the Oxford Craniofacial Unit: Lateral Remodelling and a Novel Central Self-Stabilizing S-Osteotomy Technique.
Rosanna C Ching, Steven A Wall, David Johnson

J Craniofac Surg· January 2023

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Cognitive, Behavioural, Speech, Language and Developmental Outcomes Associated with Pathogenic Variants in the ERF Gene.
Helen Care, Carrie Luscombe, Steven A Wall, Louise Dalton, David Johnson

J Craniofac Surg· September 2022

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Unexpected role of variants in craniosynostosis: expanding the phenotype of -related disorders.
Eduardo Calpena, Maud Wurmser, Simon J McGowan, Rodrigo Atique, Débora R Bertola, Steven A Wall

J Med Genet· February 2022

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Clinical signs, interventions, and treatment course of three different treatment protocols in patients with Crouzon syndrome with acanthosis nigricans.
Catherine A de Planque, Steven A Wall, Louise Dalton, Giovanna Paternoster, Éric Arnaud

J Neurosurg Pediatr· October 2021

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

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, Steven A Wall

Genet Med· September 2020

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A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis.
Cristina M Justice, Araceli Cuellar, Krithi Bala, Jeremy A Sabourin, Michael L Cunningham, Steven A Wall

Hum Genet· August 2020

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Implications for the Multi-Disciplinary Management of Children With Craniofrontonasal Syndrome.
Sophie Dupré, Helen Care, Zoe Gordon, Steven A Wall, Andrew O M Wilkie

J Craniofac Surg· June 2020

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A variant in with a selective IL-11 signaling defect in human and mouse.
Tobias Schwerd, Freia Krause, Stephen R F Twigg, Dominik Aschenbrenner, Yin-Huai Chen, Steven A Wall

Bone Res· June 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, Steven A Wall

Am J Med Genet A· April 2019

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Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.
Yan Zhou, Nils Koelling, Aimée L Fenwick, Simon J McGowan, Eduardo Calpena, Steven A Wall

Hum Mutat· October 2018

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De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Margot R F Reijnders, Kerry A Miller, Mohsan Alvi, Jacqueline A C Goos, Melissa M Lees, Steven A Wall

Am J Hum Genet· June 2018

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Clinical genetics of craniosynostosis.
Andrew O M Wilkie, David Johnson, Steven A Wall

Curr Opin Pediatr· December 2017

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A biallelic mutation in encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.
Tobias Schwerd, Stephen R F Twigg, Dominik Aschenbrenner, Santiago Manrique, Kerry A Miller, Steven A Wall

J Exp Med· September 2017

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The Management of Trigonoscaphocephaly as a Result of Combined Metopic and Sagittal Synostosis.
Thomas D Dobbs, Omer Salahuddin, Jayaratnam Jayamohan, Peter Richards, Shailendra Magdum, Steven A Wall

Plast Reconstr Surg· 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, Steven A Wall

J Med Genet· April 2017

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Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.
Jacqueline A C Goos, Aimee L Fenwick, Sigrid M A Swagemakers, Simon J McGowan, Samantha J L Knight, Steven A Wall

Hum Mutat· August 2016

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Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.
Aimee L Fenwick, Maciej Kliszczak, Fay Cooper, Jennie Murray, Luis Sanchez-Pulido, Steven A Wall

Am J Hum Genet· July 2016

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Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.
Stephen R F Twigg, Jennifer Forecki, Jacqueline A C Goos, Ivy C A Richardson, A Jeannette M Hoogeboom, Steven A Wall

Am J Hum Genet· September 2015

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Response.
Steven A Wall, Gregory P L Thomas, David Johnson, Jo C Byren, Jayaratnam Jayamohan

J Neurosurg Pediatr· September 2015

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Response.
Steven A Wall, Gregory P L Thomas, David Johnson, Jo C Byren, Jayaratnam Jayamohan

J Neurosurg Pediatr· September 2015

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