Associated Papers
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
40110048 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2
Clinical-Genomic Analysis of 1261 Patients with Ehlers-Danlos Syndrome Outlines an Articulo-Autonomic Gene Network (Entome).
Wilson GN et al.
Current Issues in Molecular Biology, 2024
38534782 (PubMed )
Supplement: cimb-46-00166-s001.zip › cimb-2829607-supplementary.xlsx › S3Tab_EDS-917_DNA_variants
NGS-Panel Diagnosis Developed for the Differential Diagnosis of Idiopathic Toe Walking and Its Application for the Investigation of Possible Genetic Causes for the Gait Anomaly.
Pomarino D et al.
Global Medical Genetics, 2023
Dysregulated immunity in PID patients with low GARP expression on Tregs due to mutations in LRRC32.
Lehmkuhl P et al.
Cellular & Molecular Immunology, 2021
34059789 (PubMed )
Supplement: 41423_2021_701_MOESM2_ESM.xlsx › 270
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases.
Maggi J et al.
International Journal of Molecular Sciences, 2021
33546218 (PubMed )
Supplement: ijms-22-01508-s001.zip › Supplementary_Files › Supplementary_Table_S1_Candidate_variants_undiagnosed_cases.xlsx › Supplementary_table_2
A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset.
Marcos AT et al.
Molecular Genetics & Genomic Medicine, 2020
OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database.
Le Roux B et al.
Orphanet Journal of Rare Diseases, 2019
31500643 (PubMed )
Supplement: 13023_2019_1187_MOESM1_ESM.pdf
Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.
Wolff RK et al.
Genes, Chromosomes & Cancer, 2018
29575536 (PubMed )
Supplement: GCC-57-366-s002.xlsx › Adenoma
Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders.
van de Warrenburg BP et al.
European Journal of Human Genetics : Ejhg, 2016
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy.
Barboni P et al.
Brain : a Journal of Neurology, 2013
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