Associated Papers
The complexity of tobacco smoke-induced mutagenesis in head and neck cancer.
Torrens L et al.
Nature Genetics, 2025
40164736 (PubMed )
Supplement: 41588_2025_2134_MOESM4_ESM.xlsx › Supplementary_Table_15
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Genetic Diagnosis in Neonatal Encephalopathy With Hypoxic Brain Damage Using Targeted Gene Panel Sequencing.
Lee S et al.
Journal of Clinical Neurology (seoul, Korea), 2024
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S12
Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical management.
Nakhleh Francis Y et al.
Genetics in Medicine Open, 2023
39669259 (PubMed )
Supplement: mmc1.xlsx › ______1
NSD1 mutations deregulate transcription and DNA methylation of bivalent developmental genes in Sotos syndrome.
Brennan K et al.
Human Molecular Genetics, 2022
Proband-Only Clinical Exome Sequencing for Neurodevelopmental Disabilities.
Kim SH et al.
Pediatric Neurology, 2019
Genomic analysis of head and neck cancer cases from two high incidence regions.
Perdomo S et al.
Plos One, 2018
29377909 (PubMed )
Supplement: pone.0191701.s007.xlsx › S3.Somatic_Mutations_SNVs_
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Tatton-Brown K et al.
American Journal of Human Genetics, 2017
28475857 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_1
Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example.
Pohjola P et al.
Genetic Testing and Molecular Biomarkers, 2012
NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory.
Waggoner DJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2005
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