Joy Yaplito-Lee

6PUBLICATIONS
81CO-AUTHORS
Infant and child healthMetabolic medicineNeurology and neuromuscular diseasesNeonatologyMedical biochemistry - carbohydrates
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Publications (6)

|May 13, 2026
Optimising newborn screening for galactosaemia: reclassifying GALE and GALM deficiencies as non-target conditions to improve specificity.

|Feb 03, 2026
Metabolic Stroke: Atypical Presentation of Succinic Semialdehyde Dehydrogenase Deficiency.

Sharmila Kiss, Richard J Leventer, Cormac Duff

|Oct 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat

|Apr 28, 2023
Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant.

Isabelle Adant, Joy Yaplito-Lee, Sharmila Kiss

|Jan 18, 2023
MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new cases.

Merel A Post, Isis de Wit, Fokje S M Zijlstra

|Mar 04, 2016
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

Zornitza Stark, Tiong Y Tan, Belinda Chong

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Frequent Collaborators

2 joint publications

Sharmila Kiss

2 joint publications

Zornitza Stark

2 joint publications

John Christodoulou

1 joint publications

Isabelle Adant