The Impact of CYP2D6 Genotyping on Tamoxifen Treatment

by Roberta Ferraldeschi, William G. Newman
Published 2010-04-01

Delivery of a Clinical Genomics Service

by William G. Newman, Graeme C. Black
Published 2014-11-01

The Role of the U5 snRNP in Genetic Disorders and Cancer

by Katherine A. Wood, Katherine A. Wood, Megan A. Eadsforth, William G. Newman, William G. Newman, Raymond T. O’Keefe
Published 2021-01-01

Epidermal Growth Factor Receptor in Pancreatic Cancer

by Ajith K. Siriwardena, William G. Newman, Melissa Oliveira-Cunha
Published 2011-03-01

Foramen ovale closure is a process of endothelial-to-mesenchymal transition leading to fibrosis.

by Graeme C Elliott, Rockesh Gurtu, Charles McCollum, William G Newman, Tao Wang
Published 2014-01-01

The Genomic Architecture of Bladder Exstrophy Epispadias Complex

by Glenda M. Beaman, Raimondo M. Cervellione, David Keene, Heiko Reutter, William G. Newman
Published 2021-07-01

Pathogenic Intronic Splice-Affecting Variants in <i>MYBPC3</i> in Three Patients with Hypertrophic Cardiomyopathy

by Katherine A. Wood, Jamie M. Ellingford, James Eden, Huw B. Thomas, Raymond T. O’Keefe, Claire Hopton, William G. Newman
Published 2021-06-01

The Role of the European Society of Human Genetics in Delivering Genomic Education

by Edward S. Tobias, Edward S. Tobias, Edward S. Tobias, Elena Avram, Elena Avram, Patricia Calapod, Christophe Cordier, Johan T. den Dunnen, Johan T. den Dunnen, Can Ding, Vita Dolzan, Sofia Douzgou Houge, Sofia Douzgou Houge, Sofia Douzgou Houge, Sally Ann Lynch, James O’Byrne, Philippos Patsalis, Philippos Patsalis, Inga Prokopenko, Inga Prokopenko, Celia A. Soares, Celia A. Soares, Adam P. Tobias, William G. Newman, William G. Newman, William G. Newman
Published 2021-09-01

Genetic polymorphism in C3 is associated with progression in chronic kidney disease (CKD) patients with IgA nephropathy but not in other causes of CKD.

by Sara T Ibrahim, Rajkumar Chinnadurai, Ibrahim Ali, Debbie Payne, Gillian I Rice, William G Newman, Eman Algohary, Ahmed G Adam, Philip A Kalra
Published 2020-01-01

Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells.

by Katherine A Wood, Charlie F Rowlands, Huw B Thomas, Steven Woods, Julieta O'Flaherty, Sofia Douzgou, Susan J Kimber, William G Newman, Raymond T O'Keefe
Published 2020-01-01

Genomic and healthcare dynamics of nosocomial SARS-CoV-2 transmission

by Jamie M Ellingford, Ryan George, John H McDermott, Shazaad Ahmad, Jonathan J Edgerley, David Gokhale, William G Newman, Stephen Ball, Nicholas Machin, Graeme CM Black
Published 2021-03-01

Mosaic Fabry Disease in a Male Presenting as Hypertrophic Cardiomyopathy

by Maria Xu, Christopher Orsborne, James Eden, Andrew Wallace, Heather J. Church, Karen Tylee, Sasalu Deepak, Christopher Cassidy, Peter Woolfson, Christopher Miller, Matthias Schmitt, Ana Jovanovic, William G. Newman
Published 2021-12-01

Early B-cell Factor 3–Related Genetic Disease Can Mimic Urofacial Syndrome

by J. Robert Harkness, Glenda M. Beaman, Keng W. Teik, Sangeet Sidhu, John A. Sayer, Heather J. Cordell, Huw B. Thomas, Katherine Wood, Helen M. Stuart, Adrian S. Woolf, William G. Newman
Published 2020-10-01

Risk of Contralateral Breast Cancer in Women with and without Pathogenic Variants in <i>BRCA1, BRCA2</i>, and <i>TP53</i> Genes in Women with Very Early-Onset (&lt;36 Years) Breast...

by Zerin Hyder, Elaine F. Harkness, Emma R. Woodward, Naomi L. Bowers, Marta Pereira, Andrew J. Wallace, Sacha J. Howell, Anthony Howell, Fiona Lalloo, William G. Newman, Miriam J. Smith, D Gareth Evans
Published 2020-02-01

Replication and Meta-Analysis of 13,000 Cases Defines the Risk for Interleukin-23 Receptor and Autophagy-Related 16-Like 1 Variants in Crohn’s Disease

by Lynn Cotterill, Debbie Payne, Scott Levison, John McLaughlin, Emma Wesley, Mark Feeney, Hilary Durbin, Simon Lal, Alistair Makin, Simon Campbell, Stephen A Roberts, Catherine O’Neill, Cathryn Edwards, William G Newman
Published 2010-01-01

Gene Panel Testing for Breast Cancer Reveals Differential Effect of Prior <i>BRCA1/2</i> Probability

by D. Gareth Evans, Elke M. van Veen, Emma R. Woodward, Elaine F. Harkness, Jamie M. Ellingford, Naomi L. Bowers, Andrew J. Wallace, Sacha J. Howell, Anthony Howell, Fiona Lalloo, William G. Newman, Miriam J. Smith
Published 2021-08-01

Pharmacogenetics to Avoid Loss of Hearing (PALOH) trial: a protocol for a prospective observational implementation trial

by Richard Body, Mark A Turner, William G Newman, John Henry McDermott, Gino Miele, Peter Roberts, Fiona Ulph, Rhona MacLeod, Shaun Ainsworth, Rachel Mahood, Duncan Stoddard, Ajit Mahaveer, Rachel Corry, Julia Garlick, Laura Kemp, Karen Harvey, Nicola Booth
Published 2021-06-01

Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease

by Jane E. Potter, Gemma Petts, Arunabha Ghosh, Fiona J. White, Jane L. Kinsella, Stephen Hughes, Jane Roberts, Adam Hodgkinson, Kathryn Brammeier, Heather Church, Christine Merrigan, Joanne Hughes, Pamela Evans, Helen Campbell, Denise Bonney, William G. Newman, Brian W. Bigger, Alexander Broomfield, Simon A. Jones, Robert F. Wynn
Published 2021-05-01

Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

by Víctor Faundes, Martin D. Jennings, Siobhan Crilly, Sarah Legraie, Sarah E. Withers, Sara Cuvertino, Sally J. Davies, Andrew G. L. Douglas, Andrew E. Fry, Victoria Harrison, Jeanne Amiel, Daphné Lehalle, William G. Newman, Patricia Newkirk, Judith Ranells, Miranda Splitt, Laura A. Cross, Carol J. Saunders, Bonnie R. Sullivan, Jorge L. Granadillo, Christopher T. Gordon, Paul R. Kasher, Graham D. Pavitt, Siddharth Banka
Published 2021-02-01

Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.

by Mariella Simon, Elodie M Richard, Xinjian Wang, Mohsin Shahzad, Vincent H Huang, Tanveer A Qaiser, Prasanth Potluri, Sarah E Mahl, Antonio Davila, Sabiha Nazli, Saege Hancock, Margret Yu, Jay Gargus, Richard Chang, Nada Al-Sheqaih, William G Newman, Jose Abdenur, Arnold Starr, Rashmi Hegde, Thomas Dorn, Anke Busch, Eddie Park, Jie Wu, Hagen Schwenzer, Adrian Flierl, Catherine Florentz, Marie Sissler, Shaheen N Khan, Ronghua Li, Min-Xin Guan, Thomas B Friedman, Doris K Wu, Vincent Procaccio, Sheikh Riazuddin, Douglas C Wallace, Zubair M Ahmed, Taosheng Huang, Saima Riazuddin
Published 2015-03-01