Associated Papers
Unexpected genotypes associated with severe paediatric conditions identified in a healthy population cohort.
Bylstra Y et al.
European Journal of Human Genetics : Ejhg, 2026
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations
Clinical and molecular characterizations of 11 new patients with type 1 Feingold syndrome: Proposal for selecting diagnostic criteria and further genetic testing in patients with severe phenotype.
Tedesco MG et al.
American Journal of Medical Genetics. Part A, 2021
Assessment of somatic mutations in urine and plasma of Wilms tumor patients.
Miguez ACK et al.
Cancer Medicine, 2020
Patterns of malformation associated with esophageal atresia/tracheoesophageal fistula: A retrospective single center study.
Galarreta CI et al.
American Journal of Medical Genetics. Part A, 2020
Genotype-phenotype correlations in MYCN-related Feingold syndrome.
Marcelis CL et al.
Human Mutation, 2008
MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.
van Bokhoven H et al.
Nature Genetics, 2005
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