Homa Tajsharghi

12PUBLICATIONS
44CO-AUTHORS
Gene mappingNeurology and neuromuscular diseasesLife historiesGene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)
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Publications (12)

|Jul 06, 2026
Autosomal Dominant Missense DAG1 Variant Linked to Mild-Moderate LGMD R16.

|Mar 17, 2026
Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration.

Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu

|Dec 22, 2025
DYNC1H1 in Spinal Muscular Atrophy: Diagnostic Findings From Two Families and a Comprehensive Review of Its Role in Neuromuscular and Neurodevelopmental Disorders.

Maryam Namdari, Behnaz Ansari, Keivan Basiri

|Oct 07, 2025
Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.

Hormos Salimi Dafsari, Celine Deneubourg, Kritarth Singh

|Aug 29, 2024
Inferring disease course from differential exon usage in the wide titinopathy spectrum.

Maria Francesca Di Feo, Ali Oghabian, Ella Nippala

|Apr 26, 2022
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.

Daniel G Calame, Isabella Herman, Reza Maroofian

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Frequent Collaborators

3 joint publications

Edoardo Malfatti

2 joint publications

Daniel G Calame

2 joint publications

Dana Marafi

2 joint publications

Shahryar Alavi