Tobias Haack

57PUBLICATIONS
925CO-AUTHORS
Molecular targetsGene and molecular therapyInfant and child healthVision scienceGenome structure and regulation
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Publications (57)

|Oct 28, 2026
Genome Sequencing Outperforms Exome Sequencing in Formalin-Fixed Paraffin Embedded Tumors Leading to Improved Treatment Options.

|Oct 08, 2026
KCNA2-Associated Hereditary Spastic Paraplegia: Clinical Characteristics and Rationale for Targeted Treatment.

|Sep 17, 2026
Expanding the genotypic and phenotypic spectrum of PGAP1 deficiency: clinical and functional insights from 15 patients.

|Sep 16, 2026
Biallelic RDH11 variants cause syndromic retinitis pigmentosa with early-onset cataracts and neurodevelopmental delay: a multicenter case series.

|Sep 16, 2026
De novo variants in the poly(rC)-binding protein gene PCBP1 cause a neurodevelopmental disorder.

|Jul 28, 2026
Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases.

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Frequent Collaborators

13 joint publications

Marc Sturm

11 joint publications

Henry Houlden

9 joint publications

Rebecca Buchert

8 joint publications

Stephanie Efthymiou