GOSgene

BIROn - Birkbeck Institutional Research Online identifies variants in that are associated with fetal loss

M. Bitner-Glindzicz, A. Joseph, P. Stanier, 2020 .

Impact of rare variants in ARHGAP29 to the etiology of oral clefts: role of loss‐of‐function vs missense variants

P. Beales, M. Passos-Bueno, M. Lees, 2017, Clinical genetics.

Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation

H. Williams, M. Dattani, I. Robinson, 2019, EBioMedicine.

Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome. (3),

L. Metherell, L. Guasti, H. Storr, 2017 .

SGPL 1 mutations cause primary adrenal insufficiency and steroid resistant nephrotic syndrome 1

L. Metherell, L. Guasti, H. Storr, 2016 .