Lewis Pang

Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders

Jacob R. Stolz, Kendall M. Foote, Hermine E. Veenstra‐Knol et al. · The American Journal of Human Genetics · 2021 · 46 citations · Full text

Neurodevelopmental Disorders, Developmental Biology, Brain Development +10

Improvements in Awareness and Testing Have Led to a Threefold Increase Over 10 Years in the Identification of Monogenic Diabetes in the U.K.

Lewis Pang, Kevin Colclough, Maggie Shepherd et al. · Diabetes Care · 2022 · 46 citations · Full text

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

Marjolein J.A. Weerts, Kristina Lanko, Francisco J. Guzmán‐Vega et al. · Genetics in Medicine · 2021 · 33 citations · Full text

A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant

Jarmila Stremenova Spegarova, Praisoody Sinnappurajar, Dalila Al Julandani et al. · Journal of Clinical Investigation · 2024 · 25 citations · Full text