Nicholas Gleadall

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Alba Sanchis‐Juan, Jonathan Stephens, Courtney E. French et al. · Genome Medicine · 2018 · 190 citations · Full text

Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans

Wei Wei, Alistair T. Pagnamenta, Nicholas Gleadall et al. · Nature Communications · 2020 · 123 citations · Full text

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Tiziana Lorenzini, Manfred Fliegauf, Nils Klammer et al. · Journal of Allergy and Clinical Immunology · 2020 · 120 citations · Full text

Autoimmune Disease, Genetic Disorder, Medicine +11

Automated typing of red blood cell and platelet antigens: a whole-genome sequencing study

William J. Lane, Connie M. Westhoff, Nicholas Gleadall et al. · The Lancet Haematology · 2018 · 88 citations · Full text

Bioinformatics, Dna Sequencing, Red Blood Cell +13

Genomic identification of cryptic susceptibility to penicillins and β-lactamase inhibitors in methicillin-resistant Staphylococcus aureus

Ewan M. Harrison, Xiaoliang Ba, Francesc Coll et al. · Nature Microbiology · 2019 · 67 citations · Full text

Antimicrobial Drug Discovery, Antimicrobial Susceptibility, Health Sciences +15