Tobias Haack

54PUBLICATIONS
901CO-AUTHORS
Infant and child healthVision scienceGenome structure and regulationEpigenetics (incl. genome methylation and epigenomics)Neurogenetics
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Publications (54)

|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.

|Jul 27, 2026
Further characterization of the BRSK2-associated neurodevelopmental disorder.

|Jul 17, 2026
Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.

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Frequent Collaborators

13 joint publications

Marc Sturm

10 joint publications

Henry Houlden

9 joint publications

Rebecca Buchert

7 joint publications

Stephanie Efthymiou