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Research

Publications: Mrs Suzanne Wood

Smedley D, Smith KR, Martin A, Thomas EA, McDonagh EM, Cipriani V, Ellingford JM, Arno G et al. ( 2021 ) . 100,000 genomes pilot on rare-disease diagnosis in health care — Preliminary report . New England Journal of Medicine vol. 385 , ( 20 ) 1868 - 1880 .
Tolchin D, Yeager JP, Prasad P, Dorrani N, Russi AS, Martinez-Agosto JA, Haseeb A, Angelozzi M et al. ( 2020 ) . De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas . American Journal of Human Genetics vol. 106 , ( 6 ) 830 - 845 .
Wheway G, Mitchison HM, Ambrose JC, Baple EL, Bleda M, Boardman-Pretty F, Boissiere JM, Boustred CR et al. ( 2019 ) . Corrigendum: Opportunities and challenges for molecular understanding of ciliopathies - The 100,000 Genomes Project (Frontiers in Genetics DOI: 10.3389/fgene.2019.00127) . Frontiers in Genetics vol. 10 , ( MAY )