E. Sackey

Genetic association analysis of 269 rare diseases reveals novel aetiologies

I. Yamanaka, S. Riazuddin, S. Mansour, 2022, medRxiv.

Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma

Amna Z. Shah, H. Cordell, M. Simpson, 2020, PLoS Genetics.

Genome-wide association study of a lipedema phenotype among women in the UK Biobank identifies multiple genetic risk factors

M. Gonzalez-Garay, K. Herbst, Y. Klimentidis, 2022, European Journal of Human Genetics.

Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes

Stephanie E. Vallee, S. Bale, M. Kilby, 2021, Genetics in Medicine.

Genetic association analysis of 77,539 genomes reveals rare disease etiologies

B. Gelb, I. Yamanaka, S. Riazuddin, 2023, Nature Medicine.

Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and warts

S. Mansour, P. Mortimer, S. Jeffery, 2021, Journal of Medical Genetics.

Investigation of clinical characteristics and genome associations in the ‘UK Lipoedema’ cohort

D. Savage, A. Pittman, G. Brice, 2021, medRxiv.