Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features.
Shimojima Yamamoto K et al.
Human Genome Variation, 2023
Systematic gene-disease relationship (GDR) curation unveils 61 gene-disease associations and highlights the impact on genetic testing.
Zonic E et al.
Genetics in Medicine Open, 2023
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
Intellectual Disability and Potassium Channelopathies: A Systematic Review.
Kessi M et al.
Frontiers in Genetics, 2020
KCTD: A new gene family involved in neurodevelopmental and neuropsychiatric disorders.
Teng X et al.
Cns Neuroscience & Therapeutics, 2019
Phenotypic characterization of KCTD3-related developmental epileptic encephalopathy.
Faqeih EA et al.
Clinical Genetics, 2018
Increasing the sensitivity of clinical exome sequencing through improved filtration strategy.
Shamseldin HE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Trujillano D et al.
European Journal of Human Genetics : Ejhg, 2017
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Alazami AM et al.
Cell Reports, 2015
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