Publications by authors named "Emma Wakeling"

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Delivering effective genome sequencing in pediatric care: From research in the 100,000 Genomes Project to routine clinical practice.
Emma Wakeling, Rashida Baptiste, Clarissa Rocca, Bethan Hoskins, Christopher Clarkson

Genet Med· December 2025

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Transposition of the Great Arteries With Intact Ventricular Septum and Fetal-Onset Dilated Cardiomyopathy in a Neonate With a Homozygous NEXN Variant.
Daniel Geer, Emma Wakeling, Ewa Goljan, Hannah Robinson, Justine Swain

Case Rep Pediatr· December 2025

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Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.
Camille Engel, Michaela Rendek, Jessica Assoumani, Emanuela Argilli, Francesca Ariani, Emma L Wakeling

Eur J Hum Genet· August 2025

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Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.
Sankalita Ray Das, Rosie Sullivan, Mischa S G Ruegg, Julia Horsfield, Jordan Doran, Emma Wakeling

Am J Hum Genet· July 2025

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Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.
Sarah U Morton, Gregory Costain, Courtney E French, Emma Wakeling, Anna Szuto

Neurology· January 2025

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POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic-atonic seizures and ataxia.
Joseph D Symonds, Kristen L Park, Cyril Mignot, Stewart Macleod, Martin Armstrong, Emma L Wakeling

Epilepsia· November 2024

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Body Composition and Metabolism in Adults With Molecularly Confirmed Silver-Russell Syndrome.
Oluwakemi Lokulo-Sodipe, Hazel M Inskip, Christopher D Byrne, Jenny Child, Emma L Wakeling

J Clin Endocrinol Metab· October 2024

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Recognition of Hyperinsulinaemic Hypoglycaemia in Infants with Congenital Central Hypoventilation Syndrome.
Neha Malhotra, Thia Hanania, Daphne Yau, Clare Gilbert, Kate Morgan, Emma Wakeling

Horm Res Paediatr· October 2024

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The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
Jai Sidpra, Sniya Sudhakar, Asthik Biswas, Flavia Massey, Valentina Turchetti, Emma Wakeling

Brain· August 2024

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Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Berardo Rinaldi, Allan Bayat, Linda G Zachariassen, Jia-Hui Sun, Yu-Han Ge, Emma Wakeling

Brain· May 2024

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Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
Marlène Malbos, Emma Wakeling, Thierry Gautier, Odile Boespflug-Tanguy, Louise Busby

Clin Genet· May 2024

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Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt.
James L Shepherdson, Katie Hutchison, Dilan Wellalage Don, George McGillivray, Tae-Ik Choi, Emma Wakeling

Am J Hum Genet· March 2024

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Expanding the allelic spectrum of ELOVL4-related autosomal recessive neuro-ichthyosis.
Fatima Alabdulrazzaq, Talal Alanzi, Haya H Al-Balool, Alice Gardham, Emma Wakeling

Mol Genet Genomic Med· December 2023

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Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease.
Wenqian Chen, Preeya Rehsi, Kyle Thompson, Mildrid Yeo, Karen Stals, Emma Wakeling

Mol Genet Metab· November 2023

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De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Frederike L Harms, Alexander J M Dingemans, Maja Hempel, Rolph Pfundt, Tatjana Bierhals, Emma L Wakeling

Genet Med· November 2023

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De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Frederike L Harms, Alexander J M Dingemans, Maja Hempel, Rolph Pfundt, Tatjana Bierhals, Emma L Wakeling

Genet Med· October 2023

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Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Daniel G Calame, Tianyu Guo, Chen Wang, Lillian Garrett, Angad Jolly, Emma Wakeling

Am J Hum Genet· August 2023

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Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Alba Sanchis-Juan, Karyn Megy, Jonathan Stephens, Camila Armirola Ricaurte, Eleanor Dewhurst, Emma Wakeling

Am J Hum Genet· August 2023

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Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of (sprouty homolog 1) function.
Rebecca S Tooze, Eduardo Calpena, Stephen R F Twigg, Felice D'Arco, , Emma L Wakeling

J Med Genet· July 2023

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A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotype.
Marija Kojic, Nour E H Abbassi, Ting-Yu Lin, Alun Jones, Emma L Wakeling

J Hum Genet· July 2023

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Combined novel homozygous variants in both and STAT presenting with severe combined immune deficiency: case report and literature review.
Adriel Roa-Bautista, Mahreen Sohail, Emma Wakeling, Kimberly C Gilmour, Mark Davis

Front Immunol· July 2023

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Expanding the phenotype of children presenting with hypoventilation with biallelic TBCK pathogenic variants and literature review.
Saraswathy Sabanathan, Deepti Gulhane, Kshitij Mankad, James Davison, Min Tsui Ong, Emma Wakeling

Neuromuscul Disord· January 2023

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Emerging phenotypes linked to variants in and MIRAGE syndrome.
Jenifer P Suntharalingham, Miho Ishida, Ignacio Del Valle, Susanne E Stalman, Nita Solanky, Emma Wakeling

Front Endocrinol (Lausanne)· September 2022

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Stop-Loss Mutation Associated with Complex Early Onset Movement Disorder without Epilepsy.
Robert Spaull, Dora Steel, Katy Barwick, Prab Prabhakar, Emma Wakeling

Mov Disord Clin Pract· August 2022

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SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
Reem Al-Jawahiri, Aidin Foroutan, Jennifer Kerkhof, Haley McConkey, Michael Levy, Emma Wakeling

Genet Med· June 2022

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