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Publications by Eugenia Fraile-Bethencourt
Functional Analyses of a Novel Splice Variant in the CHD7 Gene, Found by Next Generation Sequencing, Confirm Its Pathogenicity in a Spanish Patient and Diagnose Him With CHARGE Syndrome
Frontiers in Genetics
Genetics
Molecular Medicine
Related publications
SRBD1-ALK, a Novel ALK Fusion Gene Identified in an Adenocarcinoma Patient by Next-Generation Sequencing
Journal of Thoracic Oncology
Medicine
Oncology
Respiratory Medicine
Pulmonary
Rapid Exome Sequencing and Adjunct Rna Studies Confirm Pathogenicity of a Novel Homozygous Asns Splicing Variant in a Critically Ill Neonate
Pathology
Forensic Medicine
Pathology
Variant Discovery in Patients With Mendelian Vascular Anomalies by Next-Generation Sequencing and Their Use in Patient Clinical Management
Journal of Vascular Surgery
Surgery
Cardiovascular Medicine
Cardiology
CHARGE Syndrome Associated With De Novo (I1460Rfs*15) Frameshift Mutation of CHD7 Gene in a Patient With Arteria Lusoria and Horseshoe Kidney
Experimental and Therapeutic Medicine
Medicine
Cancer Research
Immunology
Microbiology
Next Generation Sequencing in Synovial Sarcoma Reveals Novel Gene Mutations
Oncotarget
Oncology
Effective Use of Next Generation Sequencing for Genetic Diag - Nosis of a Patient With a Mosaic Tsc2 Variant
TURKISH MEDICAL STUDENT JOURNAL
Function of Apollo (SNM1B) at Telomere Highlighted by a Splice Variant Identified in a Patient With Hoyeraal-Hreidarsson Syndrome
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
A Novel Splice Site Mutation in WAS Gene in Patient With Wiskott-Aldrich Syndrome and Chronic Colitis: A Case Report
BMC Medical Genetics
Genetics
Reproducibility of Variant Calls in Replicate Next Generation Sequencing Experiments
PLoS ONE
Multidisciplinary
