Lewis Pang
Exeter, ENG, United Kingdom
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 13 publications
Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.
Journal: American journal of medical genetics. Part A
Published: April 29, 2026
Loss-of-function variants in EPHX3 cause nonsyndromic epidermal differentiation disorders.
Journal: The British journal of dermatology
Published: March 02, 2026
Monoallelic and biallelic KDM5A variants identified in patients with autism spectrum disorder.
Journal: HGG advances
Published: November 26, 2025
An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma.
Journal: American journal of medical genetics. Part A
Published: April 19, 2025
Expanding the phenotype and genotype spectrum of TAOK1 neurodevelopmental disorder and delineating TAOK2 neurodevelopmental disorder.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 05, 2024
A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant.
Journal: The Journal of clinical investigation
Published: May 16, 2024
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Journal: Nature communications
Published: September 01, 2023
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Journal: American journal of human genetics
Published: November 05, 2021
Improvements in Awareness and Testing Have Led to a Threefold Increase Over 10 Years in the Identification of Monogenic Diabetes in the U.K.
Journal: Diabetes care
Published: October 01, 2021
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
Journal: American journal of human genetics
Published: April 06, 2021
Last Updated: 09/26/2026