Novel loss of function mutation in NOTCH1 in a family with bicuspid aortic valve, ventricular septal defect, thoracic aortic aneurysm, and aortic valve stenosis

by Radoslaw Debiec, Stephen E. Hamby, Peter D. Jones, Sue Coolman, Manish Asiani, Shireen Kharodia, Gregory J. Skinner, Nilesh J. Samani, Tom R. Webb, Aidan Bolger
Published 2020-10-01

High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation.

by Petra Liskova, Rhian Gwilliam, Martin Filipec, Katerina Jirsova, Stanislava Reinstein Merjava, Panos Deloukas, Tom R Webb, Shomi S Bhattacharya, Neil D Ebenezer, Alex G Morris, Alison J Hardcastle
Published 2012-01-01

Novel <i>LOX</i> Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings

by Ilse Van Gucht, Alice Krebsova, Birgitte Rode Diness, Steven Laga, Dave Adlam, Marlies Kempers, Nilesh J. Samani, Tom R. Webb, Ania A. Baranowska, Lotte Van Den Heuvel, Melanie Perik, Ilse Luyckx, Nils Peeters, Pavel Votypka, Milan Macek, Josephina Meester, Lut Van Laer, Aline Verstraeten, Bart L. Loeys
Published 2021-07-01

Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness.

by Alice E Davidson, Sek-Shir Cheong, Pirro G Hysi, Cristina Venturini, Vincent Plagnol, Jonathan B Ruddle, Hala Ali, Nicole Carnt, Jessica C Gardner, Hala Hassan, Else Gade, Lisa Kearns, Anne Marie Jelsig, Marie Restori, Tom R Webb, David Laws, Michael Cosgrove, Jens M Hertz, Isabelle Russell-Eggitt, Daniela T Pilz, Christopher J Hammond, Stephen J Tuft, Alison J Hardcastle
Published 2014-01-01