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
Control of striatal circuit development by the chromatin regulator Zswim6.
Choi K et al.
Science Advances, 2025
High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma.
Kunisetty B et al.
Investigative Ophthalmology & Visual Science, 2024
38502138 (PubMed )
Supplement: iovs-65-3-25_s002.xlsx › Sheet1
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
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.
Fang Q et al.
Endocrine Reviews, 2016
Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism.
Twigg SR et al.
Clinical Genetics, 2016
Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis.
Smith JD et al.
American Journal of Human Genetics, 2014
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