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Mark R Davis

6PUBLICATIONS

113CO-AUTHORS

Gene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesGene and molecular therapy

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Publications (6)

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|Apr 27, 2026

Detection of short tandem repeat expansions on a targeted neurological gene panel using STRipy improves the diagnostic rate for ataxias.

|Jan 13, 2025

Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.

Lydia Sagath, Kirsi Kiiski, Kireshnee Naidu

|Apr 29, 2024

Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.

Emiliano Giardina, Pilar Camaño, Sarah Burton-Jones

|Apr 03, 2024

Pathogenic <i>TNNI1</i> variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.

Sandra Donkervoort, Martijn van de Locht, Dario Ronchi

|Mar 04, 2022

Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.

Igor Stevanovski, Sanjog R Chintalaphani, Hasindu Gamaarachchi

|Apr 21, 2017

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Beryl B Cummings, Jamie L Marshall, Taru Tukiainen

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Frequent Collaborators

3 joint publications

Carsten G Bönnemann

3 joint publications

Nigel G Laing

2 joint publications

Alan H Beggs

2 joint publications

Ying Hu

2 joint publications

Franclo Henning

2 joint publications

Gina Ravenscroft

2 joint publications

Veronique Bolduc

2 joint publications

Sandra Donkervoort

2 joint publications

Rotem Orbach

1 joint publications

Michael Black

Frequent Collaborators

3 joint publications

Carsten G Bönnemann

3 joint publications

Nigel G Laing

2 joint publications

Alan H Beggs

2 joint publications

Ying Hu

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