Associated Papers
Clinical Application of a Customized Gene Panel for Identifying Autism Spectrum Disorder-Associated Variants.
Greco V et al.
Medicina (kaunas, Lithuania), 2025
40731902 (PubMed )
Supplement: medicina-61-01273-s001.zip › medicina-3732903-supplementary.xlsx › Foglio1
Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries.
Hotakainen R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
The first adolescent case of Fraser syndrome 3, with a novel nonsense variant in GRIP1.
Koprulu M et al.
American Journal of Medical Genetics. Part A, 2021
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
Xiang J et al.
Scientific Reports, 2020
31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
32695137 (PubMed )
Supplement: Data_Sheet_2.XLSX › Rare_diseases
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Phenotypic expansion illuminates multilocus pathogenic variation.
Karaca E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29790871 (PubMed )
Supplement: NIHMS940738-supplement-Table_S1.pdf
Unique Features of Germline Variation in Five Egyptian Familial Breast Cancer Families Revealed by Exome Sequencing.
Kim YC et al.
Plos One, 2017
Mismatch repair deficiency endows tumors with a unique mutation signature and sensitivity to DNA double-strand breaks.
Zhao H et al.
Elife, 2014
25085081 (PubMed )
Supplement: elife02725s004.xlsx › Validation_results
Gain-of-function glutamate receptor interacting protein 1 variants alter GluA2 recycling and surface distribution in patients with autism.
Mejias R et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011
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