Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants
McDonnell, Alexander F, Plech, Marcin, Livesey, Benjamin J, Gerasimavicius, Lukas, Owen, Liusaidh J, Hall, Hildegard Nikki, FitzPatrick, David R, Marsh, Joseph A, Kudla, Grzegorz
Published in Molecular systems biology (02.07.2024)
Published in Molecular systems biology (02.07.2024)
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Journal Article
MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease
Rowlands, Charlie F., Taylor, Algy, Rice, Gillian, Whiffin, Nicola, Hall, Hildegard Nikki, Newman, William G., Black, Graeme C.M., O’Keefe, Raymond T., Hubbard, Simon, Douglas, Andrew G.L., Baralle, Diana, Briggs, Tracy A., Ellingford, Jamie M.
Published in American journal of human genetics (03.02.2022)
Published in American journal of human genetics (03.02.2022)
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Journal Article
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia
Hall, Hildegard Nikki, Bengani, Hemant, Hufnagel, Robert B, Damante, Giuseppe, Ansari, Morad, Marsh, Joseph A, Grimes, Graeme R, Kriegsheim, Alex von, Moore, David, McKie, Lisa, Rahmat, Jamalia, Mio, Catia, Blyth, Moira, Keng, Wee Teik, Islam, Lily, McEntargart, Meriel, Mannens, Marcel M, Heyningen, Veronica Van, Rainger, Joe, Brooks, Brian P, FitzPatrick, David R
Published in PloS one (22.11.2022)
Published in PloS one (22.11.2022)
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Journal Article
The genetic architecture of aniridia and Gillespie syndrome
Hall, Hildegard Nikki, Williamson, Kathleen A., FitzPatrick, David R.
Published in Human genetics (01.09.2019)
Published in Human genetics (01.09.2019)
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Journal Article
Corneal perforation from peripheral ulcerative keratopathy in patients with rheumatoid arthritis: epidemiological findings of the British Ophthalmological Surveillance Unit
Timlin, Hannah Mary, Hall, Hildegard Nikki, Foot, Barny, Koay, Peter
Published in British journal of ophthalmology (01.09.2018)
Published in British journal of ophthalmology (01.09.2018)
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Journal Article
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia
Hall, Hildegard Nikki, Parry, David, Halachev, Mihail, Williamson, Kathleen A, Donnelly, Kevin, Campos Parada, Jose, Bhatia, Shipra, Joseph, Jeffrey, Holden, Simon, Prescott, Trine E, Bitoun, Pierre, Kirk, Edwin P, Newbury-Ecob, Ruth, Lachlan, Katherine, Bernar, Juan, van Heyningen, Veronica, FitzPatrick, David R, Meynert, Alison
Published in Journal of medical genetics (01.03.2024)
Published in Journal of medical genetics (01.03.2024)
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Journal Article
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia
Hildegard Nikki Hall, Hemant Bengani, Robert B. Hufnagel, Giuseppe Damante, Morad Ansari, Joseph A. Marsh, Graeme R. Grimes, Alex von Kriegsheim, David Moore, Lisa McKie, Jamalia Rahmat, Catia Mio, Moira Blyth, Wee Teik Keng, Lily Islam, Meriel McEntargart, Marcel M. Mannens, Veronica Van Heyningen, Joe Rainger, Brian P. Brooks, David R. FitzPatrick
Published in PloS one (01.01.2022)
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Published in PloS one (01.01.2022)
Journal Article