Jack Reilly

Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders

J. Gécz, S. Robertson, R. Stevenson, 2022, Human mutation.

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

Saskia M. J. Hopman, R. Pfundt, E. van Binsbergen, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

The discovery of the DNA methylation episignature for Duchenne muscular dystrophy

B. Sadikovic, M. Levy, J. Kerkhof, 2022, Neuromuscular Disorders.

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders

J. Gécz, S. Robertson, R. Stevenson, 2021, HGG advances.

EpiSigns: DNA Methylation Signatures in Mendelian Neurodevelopmental Disorders as a Diagnostic Link Between a Genotype and Phenotype

B. Sadikovic, J. Kerkhof, Jack Reilly, 2020 .

EpiSigns

B. Sadikovic, J. Kerkhof, Jack Reilly, 2020, Advances in Molecular Pathology.

Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels.

Hanxin Lin, Bekim Sadikovic, Robert A Hegele, 2017, The Journal of molecular diagnostics : JMD.

Clinical Next-Generation Sequencing Pipeline Outperforms a Combined Approach Using Sanger Sequencing and Multiplex Ligation-Dependent Probe Amplification in Targeted Gene Panel Analysis.

P. Ainsworth, J. Knoll, C. Howlett, 2016, The Journal of molecular diagnostics : JMD.

Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711

S. Robertson, P. Tarpey, C. Skinner, 2022, European Journal of Human Genetics.

DNA methylation episignature in Gabriele-de Vries syndrome.

D. Misceo, W. Craigen, R. Louie, 2022, Genetics in Medicine.

Analysis of Sequence and Copy Number Variants in Canadian Patient Cohort With Familial Cancer Syndromes Using a Unique Next Generation Sequencing Based Approach

P. Ainsworth, B. Sadikovic, M. Volodarsky, 2021, Frontiers in Genetics.