Tobias B. Haack

Hoppe Seyler Str. 3
Tuebingen, BW 72076, Germany

Last Updated: 09/26/2026

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Found 393 publications

Truncating RELA variants drive autoinflammation and autoimmunity by impairing the negative feedback control of NF-κB.

Truncating RELA variants drive autoinflammation and autoimmunity by impairing the negative feedback control of NF-κB.

Journal: JCI insight

Published: August 11, 2026

Three novel variants in the UBAP1L gene lead to a generalized retinal dystrophy.

Three novel variants in the UBAP1L gene lead to a generalized retinal dystrophy.

Journal: Ophthalmic genetics

Published: July 27, 2026

Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.

Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.

Journal: Research square

Published: July 17, 2026

The AP5B1 p.(Leu785Pro) variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations.

The AP5B1 p.(Leu785Pro) variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations.

Journal: HGG advances

Published: June 23, 2026

The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations.

The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations.

Journal: HGG advances

Published: June 23, 2026

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: May 18, 2026

Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease.

Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease.

Journal: EMBO molecular medicine

Published: April 25, 2026

Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases.

Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases.

Journal: European journal of human genetics : EJHG

Published: March 16, 2026

aiDIVA - hybrid AI for rare disease diagnostics using evidence-based, machine learning and language models.

aiDIVA - hybrid AI for rare disease diagnostics using evidence-based, machine learning and language models.

Journal: NPJ genomic medicine

Published: March 12, 2026

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

Journal: Clinical genetics

Published: February 26, 2026

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

Journal: Clinical genetics

Published: February 26, 2026

No Evidence for an Association Between DIP2B Repeat Expansion and Neurological Disease.

No Evidence for an Association Between DIP2B Repeat Expansion and Neurological Disease.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: February 23, 2026

Showing 1-12 of 393

Last Updated: 09/26/2026