Emma Wakeling
8PUBLICATIONS
111CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (8)
Sort by Publication Date:
|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
Pageof 2
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
