Ronald D Cohn
9PUBLICATIONS
89CO-AUTHORS
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Publications (9)
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|Nov 27, 2025
Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes.Antonio Mollica, Safia Omer, Georgiana Forguson
|Oct 22, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.Reza Asadollahi, Aisha Ahmad, Paranchai Boonsawat
|Dec 19, 2024
Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study.Sarah U Morton, Gregory Costain, Courtney E French
|Aug 05, 2024
Generation and characterization of a mouse model of Becker muscular dystrophy with a deletion of Dmd exons 52 to 55.Lucie O M Perillat, Tatianna W Y Wong, Eleonora Maino
|Jun 28, 2024
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patient.James J Dowling, Terry Pirovolakis, Keshini Devakandan
|May 03, 2024
Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmental disorders.Xiaona Lu, Kim Ng, Filippo Pinto E Vairo
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Frequent Collaborators
3 joint publications
Evgueni A Ivakine
3 joint publications
Eleonora Maino
2 joint publications
Zornitza Stark
2 joint publications
James J Dowling
2 joint publications
Monica H Wojcik
2 joint publications
John Christodoulou
2 joint publications
Anna Szuto
1 joint publications
Jill A Rosenfeld
1 joint publications
Mustafa Sahin
1 joint publications
Benjamin M Greenberg
