Michelle Ward

A flexible computational pipeline for research analyses of unsolved clinical exome cases

T. Groza, T. Lassmann, J. Blackwell, 2020, npj Genomic Medicine.

A Clinical Review of Generalized Overgrowth Syndromes in the Era of Massively Parallel Sequencing

R. Scott, G. Baynam, B. Kamien, 2018, Molecular Syndromology.

RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features.

M. Shaw, J. Gécz, E. Thorland, 2020, American journal of human genetics.

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

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

CRISPR single base editing, neuronal disease modelling and functional genomics for genetic variant analysis: pipeline validation using Kleefstra syndrome EHMT1 haploinsufficiency

T. Lassmann, Denise Anderson, G. Baynam, 2022, Stem cell research & therapy.

Integrated multi-omics for rapid rare disease diagnosis on a national scale

S. Sandaradura, K. Kassahn, Meredith Wilson, 2023, Nature Medicine.

Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease

Michelle Ward, Vanessa S. Fear, Catherine A. Forbes, 2023, Stem Cell Research & Therapy.