Mark R Davis
6PUBLICATIONS
113CO-AUTHORS
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Publications (6)
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|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 TNNI1 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
