Associated Papers
Unraveling LINE-1 retrotransposition in head and neck squamous cell carcinoma.
Brea-Iglesias J et al.
Molecular Oncology, 2025
40465458 (PubMed )
Supplement: MOL2-19-3769-s001.xlsx › Table_S5
Trio-based whole-exome sequencing reveals mutations in early-onset high myopia.
Ye L et al.
Bmj Open Ophthalmology, 2024
Genetic screening in a Brazilian cohort with inborn errors of immunity.
Ferreira CS et al.
Bmc Genomic Data, 2023
37592284 (PubMed )
Supplement: 12863_2023_1148_MOESM5_ESM.xlsx › Secondary_variants
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
32005694 (PubMed )
Supplement: jmedgenet-2019-106377supp005.pdf
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31848469 (PubMed )
Supplement: 41436_2019_722_MOESM1_ESM.pdf
Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.
Tang D et al.
Scientific Reports, 2018
30026549 (PubMed )
Supplement: 41598_2018_29279_MOESM1_ESM.pdf
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.
El Chehadeh-Djebbar S et al.
European Journal of Human Genetics : Ejhg, 2013
The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome.
El Chehadeh-Djebbar S et al.
Journal of Medical Genetics, 2011
Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome.
El Chehadeh S et al.
Journal of Medical Genetics, 2010
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