Friedhelm Hildebrandt

Haploinsufficiency, de novo and biallelic missense variants in CSMD2 are associated with neurodevelopmental disorders

The paper identifies rare variants in CSMD2 associated with neurodevelopmental disorders, showing both recessive and dominant inheritance patterns and functional impairments.

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing

This study evaluates the diagnostic yield of short-read and long-read sequencing in rare diseases, finding limited added value from long-read sequencing despite increased variant discovery.

A protein interactome for the last eukaryotic common ancestor illuminates the biochemical basis of modern genetic diseases

The paper reconstructs the protein interactome of the Last Eukaryotic Common Ancestor and identifies new human gene-disease associations for bone density and congenital birth defects.

Selection of Genetic Conditions for Multi-State Genomic Newborn Screening in BEACONS-NBS

The paper develops a comprehensive list of genetic conditions for genomic newborn screening, including 777 conditions associated with 743 genes, for implementation across multiple U.S. states and territories.

Recessive variants in the intergenic NOS1AP-C1orf226 locus cause monogenic kidney disease responsive to anti-proteinuric treatment

This study identifies recessive variants in the NOS1AP-C1orf226 intergenic locus causing monogenic kidney disease and shows responsiveness to anti-proteinuric treatment.

A kidney specific mouse model to study the effects of in vivo induction of Yamanaka factors

This study investigates the effects of in vivo induction of Yamanaka factors (OKS) in a kidney-specific mouse model to enhance tissue repair after acute kidney injury, finding that while feasible, it carries risks of oncogenic transformation.

CAKUT variants in PRPF8, DYRK2, and CEP78: implications for splicing and ciliogenesis

The paper identifies variants in PRPF8 and related genes associated with CAKUT, showing their role in splicing and ciliogenesis through functional experiments.

The contribution of de novo coding mutations to meningomyelocele

The paper identifies de novo mutations contributing to meningomyelocele risk by analyzing trios and finding damaging mutations in 22.3% of cases.

Mesoscale landscaping of the TRIM protein family reveals a novel human condensatopathy

This study investigates mesoscale organization of TRIM proteins, finding that TRIM8 truncations cause condensatopathy by disrupting condensation and signaling pathways.

Exome copy number variant detection, analysis and classification in a large cohort of families with undiagnosed rare genetic disease

The paper detects and classifies copy number variants in exome data from 6,633 families, identifying causal CNVs in 173 families and improving classification standards.

Strong protective effect of the APOL1 p.N264K variant against G2-associated FSGS and kidney disease

The paper shows the APOL1 p.N264K variant reduces the risk of FSGS and kidney disease in individuals with G2 APOL1 risk alleles.

Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis

This study evaluates genome sequencing's diagnostic yield in a cohort of undiagnosed rare disease patients, finding it solves 29.3% of cases with specific variant types not detectable by exome sequencing.

CRISPR/Cas9 targeting Ttc30a mimics ciliary chondrodysplasia with polycystic kidney disease.

The paper identifies TTC30A/B as a key gene in ciliary chondrodysplasia and nephronophthisis-like disease using CRISPR/Cas9 in Xenopus tropicalis models.

Cystin gene mutations cause autosomal recessive polycystic kidney disease associated with altered Myc expression

This paper shows that Cys1 gene mutations cause ARPKD by altering Myc expression, using mouse models and a human patient case.

ADCK4 deficiency destabilizes the coenzyme Q complex, which is rescued by 2,4-dihydroxybenzoic acid treatment

This study shows ADCK4 deficiency causes CoQ10 deficiency and mitochondrial dysfunction in podocytes, which is rescued by 2,4-dihydroxybenzoic acid treatment.