Thomas Haaf

Domain specific phenotypic expansion associated with variants in MACF1

The paper identifies domain-specific phenotypic effects of MACF1 variants outside the GAR domain, revealing broader neurodevelopmental and craniofacial anomalies.

PALM3 and hearing loss: a potential dual diagnosis interfering with novel gene discovery

The paper identifies a homozygous splice-site variant in PALM3 and a missense variant in OTOA in a family with autosomal recessive hearing loss, supporting PALM3 as a candidate gene through functional and comparative analysis.

FRMPD4, a causal gene for intellectual disability and epilepsy, is associated with X-linked non-syndromic hearing loss

The paper identifies FRMPD4 as a causal gene for X-linked non-syndromic hearing loss through genetic analysis and cross-species functional studies.

Epigenome-wide profiling in the dorsal raphe nucleus highlights cell-type-specific changes in TNXB in Alzheimer's disease

This study identifies cell-type-specific epigenetic changes in TNXB in Alzheimer's disease using bulk and single-cell analyses of the dorsal raphe nucleus.

Biallelic mutation of CLRN2 causes non-syndromic hearing loss in humans

This study identifies biallelic mutations in CLRN2 as a cause of non-syndromic hearing loss through genetic analysis of a consanguineous family and functional validation in zebrafish and mouse models.

Biallelic TANGO1 mutations cause a novel syndromal disease due to hampered cellular collagen secretion

This paper identifies biallelic TANGO1 mutations causing a novel syndromal collagenopathy in humans, leading to multiple systemic abnormalities.