Ivon Cusco

6PUBLICATIONS
43CO-AUTHORS
Structural properties of condensed matterGene mappingMedical molecular engineering of nucleic acids and proteinsOptical technologyNeurogenetics
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (6)

|Oct 10, 2024
The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.

Neftalí Vazquez, Chanjae Lee, Irene Valenzuela

|Jan 05, 2023
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples.

Anna Abulí, Mar Costa-Roger, Marta Codina-Solà

|Aug 12, 2022
Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

Laura Blasco-Pérez, Mar Costa-Roger, Jordi Leno-Colorado

|Mar 19, 2021
Beyond copy number: A new, rapid, and versatile method for sequencing the entire SMN2 gene in SMA patients.

Laura Blasco-Pérez, Ida Paramonov, Jordi Leno

|May 16, 2020
De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features.

Daphné Lehalle, Pierre Vabres, Arthur Sorlin

|Aug 16, 2019
Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome.

Marta Codina-Sola, Mar Costa-Roger, Debora Pérez-García

Pageof 1

Frequent Collaborators

3 joint publications

Marta Codina-Solà

3 joint publications

Eduardo F Tizzano

2 joint publications

Irene Valenzuela

2 joint publications

Laura Blasco-Pérez