Associated Papers
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
Racine C et al.
Journal of Medical Genetics, 2023
1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.
Bajaj A et al.
Human Genomics, 2022
Long QT Syndrome and Sinus Bradycardia-A Mini Review.
Wilders R et al.
Frontiers in Cardiovascular Medicine, 2018
30123799 (PubMed )
Supplement: Data_Sheet_1.PDF
Evaluation of a new high-throughput next-generation sequencing method based on a custom AmpliSeq™ library and ion torrent PGM™ sequencing for the rapid detection of genetic variations in long QT syndrome.
Millat G et al.
Molecular Diagnosis & Therapy, 2014
DNA sequence capture and next-generation sequencing for the molecular diagnosis of genetic cardiomyopathies.
D'Argenio V et al.
The Journal of Molecular Diagnostics : Jmd, 2014
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