Katherine R. Bull

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders

Jenny C. Taylor, Hilary C. Martin, Stefano Lise et al. · Nature Genetics · 2015 · 378 citations · Full text

Sequencing, Psychiatry, Clinical Genome +8

VEGF regulates local inhibitory complement proteins in the eye and kidney

Lindsay Keir, Rachel Firth, Lyndsey Aponik et al. · Journal of Clinical Investigation · 2016 · 145 citations · Full text

Ocular Disease, Immunology, Renal Inflammation +21

An essential role for the Zn2+ transporter ZIP7 in B cell development

Consuelo Anzilotti, David Swan, Bertrand Boisson et al. · Nature Immunology · 2019 · 128 citations · Full text

Developmental Biology, Essential Role, Cell Signaling +9

B cell survival, surface BCR and BAFFR expression, CD74 metabolism, and CD8− dendritic cells require the intramembrane endopeptidase SPPL2A

H Bergmann, Mehmet Yabas, Alanna Short et al. · The Journal of Experimental Medicine · 2012 · 82 citations · Full text

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases

Alistair T. Pagnamenta, Edoardo Giacopuzzi, John Taylor et al. · Genome Medicine · 2023 · 63 citations · Full text