Associated Papers
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
Rekerle L et al.
American Journal of Human Genetics, 2026
41443197 (PubMed )
Supplement: mmc1.pdf
GA4GH Phenopacket-Driven Characterization of Genotype-Phenotype Correlations in Mendelian Disorders.
Rekerle L et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40093222 (PubMed )
Supplement: media-1.pdf
A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting.
Yanagishita T et al.
Human Genome Variation, 2021
Prenatal Diagnosis of Acromelic Frontonasal Dysostosis.
Martínez-Payo C et al.
Molecular Syndromology, 2021
A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.
Palmer EE et al.
American Journal of Human Genetics, 2017
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