Correction: Comprehensive genetic screening of early-onset dementia patients in an Austrian cohort-suggesting new disease-contributing genes.
Hum Genomics
2023
17
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Genetic Modifiers of Mendelian Monogenic Collagen IV Nephropathies in Humans and Mice.
Genes (Basel)
2023
14
9
Integrative omics approaches to advance rare disease diagnostics.
J Inherit Metab Dis
2023
46
5
824-838
FOXD2 DYSFUNCTION IS IMPLICATED IN SYNDROMIC CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT (CAKUT)
Pediatr Nephrol
2023
38 Suppl 2
S128-S129
A burning question from the first international BPAN symposium: is restoration of autophagy a promising therapeutic strategy for BPAN?
Autophagy
2023
19
12
3234-3239
Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.
Clin Genet
2023
103
6
644-654
Biallelic variants in the ESCRT-II subunit SNF8 cause either early-onset lethal leukoencephalopathy or childhood onset optic atrophy
Eur J Hum Genet
2023
31 Suppl 1
499-499
Exome sequencing in a large cohort of individuals with VATER/VACTERL association for identification of disease-causing variants in disease-associated genes and prioritization of candidate genes
Pediatr Nephrol
2023
38
7
2287-2288
Identification of molecular signatures and pathways involved in Rett syndrome-spectrum disorders using a multi-omics approach
Eur J Hum Genet
2023
31 Suppl 1
496-496