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Emma Wakeling

8PUBLICATIONS

111CO-AUTHORS

NeurogeneticsGene expression (incl. microarray and other genome-wide approaches)Developmental genetics (incl. sex determination)NeonatologyStructural properties of condensed matter

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Publications (8)

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|Feb 13, 2026

Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained Epilepsy.

Jimmy N H Nguyen, Maria Lachgar-Ruiz, Edward J Higginbotham

|Jan 16, 2026

International guideline on genetic testing of children with short stature.

Andrew Dauber, Alexander A L Jorge, Ola Nilsson

|Dec 05, 2025

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

|Dec 19, 2024

Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.

Sarah U Morton, Gregory Costain, Courtney E French

|Feb 08, 2024

Body Composition and Metabolism in Adults With Molecularly Confirmed Silver-Russell Syndrome.

Oluwakemi Lokulo-Sodipe, Hazel M Inskip, Christopher D Byrne

|Dec 21, 2022

Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of <i>SPRY1</i> (sprouty homolog 1) function.

Rebecca S Tooze, Eduardo Calpena, Stephen R F Twigg

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Frequent Collaborators

3 joint publications

John Christodoulou

2 joint publications

Zornitza Stark

2 joint publications

Gregory Costain

2 joint publications

Justin H Davies

1 joint publications

Eduardo Calpena

1 joint publications

Stephen R F Twigg

1 joint publications

Alissa M D'Gama

1 joint publications

Andrew O M Wilkie

1 joint publications

Oluwakemi Lokulo-Sodipe

1 joint publications

Christopher D Byrne

Frequent Collaborators

3 joint publications

John Christodoulou

2 joint publications

Zornitza Stark

2 joint publications

Gregory Costain

2 joint publications

Justin H Davies

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