C. McKenna

A Formative Study of the Implementation of Whole Genome Sequencing in Northern Ireland

A. McKnight, S. McKee, S. Heggarty, 2022, Genes.

Recognizing vascular Ehlers-Danlos syndrome (type IV) in the newborn.

N. Ghali, A. Vandersteen, E. Wakeling, 2017, Clinical dysmorphology.

Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy

A. Need, C. Tregidgo, P. Furió-Tarí, 2020, Genetics in Medicine.

Variants in GNAI1 Cause a Syndrome Associated with Variable Features including Developmental Delay, Seizures and Hypotonia

Ethan M. Goldberg, Golder N Wilson, D. MacArthur, 2021, Genetics in Medicine.

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

Golder N Wilson, Carol J. Saunders, J. Rosenfeld, 2022, Molecular Psychiatry.

Prenatal genomic testing for ultrasound‐detected fetal structural anomalies

S. McKee, S. McCullough, F. Mone, 2023, The Obstetrician & Gynaecologist.