Homa Tajsharghi

Skoevde, O, Sweden

Last Updated: 09/26/2026

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Found 52 publications

Autosomal Dominant Missense DAG1 Variant Linked to Mild-Moderate LGMD R16.

Autosomal Dominant Missense DAG1 Variant Linked to Mild-Moderate LGMD R16.

Journal: Human mutation

Published: May 04, 2026

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration.

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration.

Journal: Clinical genetics

Published: October 31, 2025

Homozygous FDXR variant in twin sisters with spastic paraparesis followed by acute progressive flaccid quadriparesis.

Homozygous FDXR variant in twin sisters with spastic paraparesis followed by acute progressive flaccid quadriparesis.

Journal: BMC neurology

Published: August 02, 2025

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

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

Journal: Molecular genetics & genomic medicine

Published: May 01, 2025

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.

Journal: Annals of neurology

Published: March 04, 2025

Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.

Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.

Journal: Brain : a journal of neurology

Published: February 21, 2025

A clinical and genotype-phenotype analysis of MACF1 variants.

A clinical and genotype-phenotype analysis of MACF1 variants.

Journal: American journal of human genetics

Published: January 10, 2025

NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.

NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries.

Journal: Clinical genetics

Published: December 26, 2024

Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and Novel Phenotypic Expansions in a Consanguineous Cohort.

Integrating Prenatal Exome Sequencing and Ultrasonographic Fetal Phenotyping for Assessment of Congenital Malformations: High Molecular Diagnostic Yield and Novel Phenotypic Expansions in a Consanguineous Cohort.

Journal: Clinical genetics

Published: November 02, 2024

Inferring disease course from differential exon usage in the wide titinopathy spectrum.

Inferring disease course from differential exon usage in the wide titinopathy spectrum.

Journal: Annals of clinical and translational neurology

Published: July 23, 2024

Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.

Biallelic NDUFA13 variants lead to a neurodevelopmental phenotype with gradual neurological impairment.

Journal: Brain communications

Published: July 02, 2024

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.

Elucidating the clinical and genetic spectrum of inositol polyphosphate phosphatase INPP4A-related neurodevelopmental disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 18, 2023

Showing 1-12 of 52

Last Updated: 09/26/2026