Publications by authors named "R Orbach"

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Microtubule inner proteins - bridging structure and function in ciliary biology.
Miao Gui, Ron Orbach

J Cell Sci· October 2025

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Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T.
A Reghan Foley, Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach

Brain· September 2025

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Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.
Lydia Sagath, Kirsi Kiiski, Kireshnee Naidu, Krutik Patel, Per Harald Jonson, Rotem Orbach

Eur J Hum Genet· September 2025

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BCS1L-Associated Disease: 5'-UTR Variant Shifts the Phenotype Towards Axonal Neuropathy.
Rotem Orbach, Nunziata Maio, Russell J Butterfield, A Reghan Foley, Sarah Silverstein

Ann Clin Transl Neurol· September 2025

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Heterozygous loss-of-function variants in SPTAN1 cause an early childhood onset distal myopathy.
Jonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli, Arnaud Isapof, Rotem Orbach

Genet Med· June 2025

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