Hywel Williams

Opportunities and challenges in NGS for diagnosis of rare paediatric diseases

C. Bacchelli, Hywel Williams, 2017 .

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

R. Scott, S. Drury, L. Chitty, 2015, Prenatal diagnosis.

Pathogenic Variants in RNPC3 are Associated with Hypopituitarism and Primary Ovarian Insufficiency

M. Maghnie, S. Gustincich, M. Dattani, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations

M. Schmidts, R. Patel-King, A. Bush, 2017, Thorax.

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities

R. Scott, S. Drury, L. Chitty, 2015, Prenatal diagnosis.