S. Doyle

Evolving fetal phenotypes and clinical impact of progressive prenatal exome sequencing pathways: cohort study

M. Kilby, D. McMullan, D. Williams, 2021, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Extended Experience of Lower Dose Sapropterin in Irish Adults with Mild Phenylketonuria.

E. Treacy, M. O'Regan, J. Bracken, 2018, JIMD reports.

A case of Costello syndrome diagnosed by trio whole exome sequencing

H. McDermott, Harshavardhan Gowda, S. Doyle, 2022, Journal of obstetrics and gynaecology : the journal of the Institute of Obstetrics and Gynaecology.

Diagnostic and perinatal outcomes in consanguineous couples with a structural fetal anomaly: A cohort study

M. Kilby, T. Marton, F. Mone, 2020, Acta obstetricia et gynecologica Scandinavica.

Multi-Organ Dysfunction in Cerebral Palsy

C. McDonnell, E. Molloy, O. Franklin, 2021, Frontiers in Pediatrics.

The prenatal exome – a door to prenatal diagnostics?

M. Kilby, Denise Williams, S. Allen, 2021, Expert review of molecular diagnostics.

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

D. Goldstein, A. Singleton, F. McKenzie, 2018, American journal of medical genetics. Part A.

New mutation and prenatal diagnosis in ornithine transcarbamylase deficiency.

J. L. Potter, R. Nussbaum, A. Beaudet, 1986, American journal of human genetics.

The genetic and biochemical basis of trimethylaminuria in an Irish cohort

R. Kirk, N. Byrne, Daniel N. Murphy, 2019, JIMD reports.