A comparative study of mutation screening of sarcomeric genes (MYBPC3, MYH7, TNNT2) using single gene approach versus targeted gene panel next generation sequencing in a cohort of...

by Heba Sh. Kassem, Roddy Walsh, Paul J. Barton, Besra S. Abdelghany, Remon S. Azer, Rachel Buchan, Shibu John, Ahmed Elguindy, Sarah Moharem-ElGamal, Hala M. Badran, Hoda Shehata, Stuart A. Cook, Magdi H. Yacoub
Published 2017-10-01

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

by Roddy Walsh, Francesco Mazzarotto, Nicola Whiffin, Rachel Buchan, William Midwinter, Alicja Wilk, Nicholas Li, Leanne Felkin, Nathan Ingold, Risha Govind, Mian Ahmad, Erica Mazaika, Mona Allouba, Xiaolei Zhang, Antonio de Marvao, Sharlene M. Day, Euan Ashley, Steven D. Colan, Michelle Michels, Alexandre C. Pereira, Daniel Jacoby, Carolyn Y. Ho, Kate L. Thomson, Hugh Watkins, Paul J. R. Barton, Iacopo Olivotto, Stuart A. Cook, James S. Ware
Published 2019-01-01

The addition of genetic testing and cardiovascular magnetic resonance to routine clinical data for stratification of etiology in dilated cardiomyopathy

by Ravi J. Amin, Ravi J. Amin, Deborah Morris-Rosendahl, Deborah Morris-Rosendahl, Mat Edwards, Upasana Tayal, Upasana Tayal, Upasana Tayal, Rachel Buchan, Daniel J. Hammersley, Daniel J. Hammersley, Richard E. Jones, Richard E. Jones, Sabiha Gati, Sabiha Gati, Sabiha Gati, Zohya Khalique, Zohya Khalique, Zohya Khalique, Batool Almogheer, Batool Almogheer, Dudley J. Pennell, Dudley J. Pennell, Arun John Baksi, Arun John Baksi, Arun John Baksi, Antonis Pantazis, Antonis Pantazis, James S. Ware, James S. Ware, James S. Ware, Sanjay K. Prasad, Sanjay K. Prasad, Sanjay K. Prasad, Brian P. Halliday, Brian P. Halliday, Brian P. Halliday
Published 2022-10-01