Rotem Orbach

7PUBLICATIONS
113CO-AUTHORS
Infant and child healthGene expression (incl. microarray and other genome-wide approaches)Neurology and neuromuscular diseasesCancer geneticsGene and molecular therapy
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Publications (7)

|May 15, 2026
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN-Digenic Myopathy.

|Jul 15, 2025
BCS1L-Associated Disease: 5'-UTR Variant Shifts the Phenotype Towards Axonal Neuropathy.

Rotem Orbach, Nunziata Maio, Russell J Butterfield

|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 08, 2024
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.

A Reghan Foley, Véronique Bolduc, Fady Guirguis

|Apr 03, 2024
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease.

Sandra Donkervoort, Martijn van de Locht, Dario Ronchi

|Jan 10, 2024
Loss of Function of the Cytoplasmic Fe-S Assembly Protein CIAO1 Causes a Neuromuscular Disorder with Compromise of Nucleocytoplasmic Fe-S Enzymes.

Nunziata Maio, Rotem Orbach, Irina Zaharieva

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Frequent Collaborators

5 joint publications

Sandra Donkervoort

5 joint publications

Carsten G Bönnemann

4 joint publications

A Reghan Foley

2 joint publications

Mark R Davis