Alpha Helices Are More Robust to Mutations than Beta Strands. by György Abrusán, Joseph A Marsh

Get full text

Protein flexibility facilitates quaternary structure assembly and evolution. by Joseph A Marsh, Sarah A Teichmann

Get full text

Updated benchmarking of variant effect predictors using deep mutational scanning by Benjamin J Livesey, Joseph A Marsh

Get full text

The properties of human disease mutations at protein interfaces. by Benjamin J Livesey, Joseph A Marsh

Get full text

Variant effect predictor correlation with functional assays is reflective of clinical classification performance by Benjamin J. Livesey, Joseph A. Marsh

Get full text

Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations. by Thomas J Attard, Julie P I Welburn, Joseph A Marsh

Get full text

Curating genomic disease-gene relationships with Gene2Phenotype (G2P) by T. Michael Yates, Morad Ansari, Louise Thompson, Sarah E. Hunt, Elena Cibrian Uhalte, Rachel J. Hobson, Joseph A. Marsh, Caroline F. Wright, Helen V. Firth

Get full text

Guidelines for releasing a variant effect predictor by Benjamin J. Livesey, Mihaly Badonyi, Mafalda Dias, Jonathan Frazer, Sushant Kumar, Kresten Lindorff-Larsen, David M. McCandlish, Rose Orenbuch, Courtney A. Shearer, Lara Muffley, Julia Foreman, Andrew M. Glazer, Ben Lehner, Debora S. Marks, Frederick P. Roth, Alan F. Rubin, Lea M. Starita, Joseph A. Marsh

Get full text

Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia. by 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

Get full text