Svetlana Gorokhova

18PUBLICATIONS
206CO-AUTHORS
Neurology and neuromuscular diseasesNeurogeneticsGene expression (incl. microarray and other genome-wide approaches)Gene mappingMedical biochemistry - amino acids and metabolites
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Publications (18)

|Feb 06, 2026
Benchmarking RNA-seq Tools for Real-World Diagnostic Applications.

Sarah Silverstein, Kaushik R Ganapathy, Sandra Donkervoort

|Dec 19, 2025
DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.

Wallid Deb, Thomas Besnard, Florence Desprez

|Jun 05, 2025
RNA-based diagnostic studies in genetics: Review and guidance from a multidisciplinary French network.

Marie-Pierre Buisine, Christine Bellanne-Chantelot, Nadège Calmels

|May 16, 2025
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Caroline Nava, Benjamin Cogne, Amandine Santini

|Nov 12, 2024
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.

Lein N H Dofash, Lee B Miles, Yoshihiko Saito

|Aug 31, 2024
Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.

Shruthi Mohan, Shannon McNulty, Courtney Thaxton

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Frequent Collaborators

5 joint publications

Marc Bartoli

3 joint publications

Benjamin Cogne

2 joint publications

Robert J Bryson-Richardson

2 joint publications

Marco Savarese