Browsing Centre for Clinical Pharmacology by Author "Pullinger, J"
Now showing items 1-5 of 5
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An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy
Pagnamenta, AT; Kaiyrzhanov, R; Zou, Y; Da'as, SI; Maroofian, R; Donkervoort, S; Dominik, N; Lauffer, M; Ferla, MP; Orioli, A (2021-01-18)The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that ... -
Genomic loci susceptible to systematic sequencing bias in clinical whole genomes
Freeman, TM; Wang, D; Harris, J; Hackett, JM; Halai, D; Hamblin, A; Henderson, S; Holman, JE; Hubbard, TJP; Ibanez, K (Cold Spring Harbor Laboratory Press., 2020-03) -
Human and mouse essentiality screens as a resource for disease gene discovery
Cacheiro, P; Munoz-Fuentes, V; Murray, SA; Dickinson, ME; Bucan, M; Nutter, LMJ; Peterson, KA; Haselimashhadi, H; Flenniken, AM; Morgan, H (2020-01-31) -
Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project (vol 10, 127, 2019)
Wheway, G; Ambrose, JC; Baple, EL; Bleda, M; Boardman-Pretty, F; Boissiere, JM; Boustred, CR; Caulfield, MJ; Chan, GC; Craig, CEH (2019-08-13) -
Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2
Hong, Y; Nanthapisal, S; Omoyinmi, E; Olbrich, P; Neth, O; Speckmann, C; Lucena, JM; Gilmour, K; Worth, A; Klein, N (2019)