Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants.
Schobers G, Pennings M, de Vries J, Kwint M, van Reeuwijk J, Corominas Galbany J, van Beek R, Kamping E, Timmermans R, Kamsteeg EJ, Haer-Wigman L, Cremers FPM, Roosing S, Gilissen C, Kremer H, Brunner HG, Yntema HG, Vissers LELM.
Schobers G, et al. Among authors: pennings m.
Eur J Hum Genet. 2025 Jan;33(1):56-64. doi: 10.1038/s41431-024-01694-9. Epub 2024 Sep 27.
Eur J Hum Genet. 2025.
PMID: 39333430