Associated Papers
Phenotypic expression, genotypic profiling and clinical outcomes of infantile hypertrophic cardiomyopathy: a retrospective study.
Ahamed H et al.
Archives of Disease in Childhood, 2024
Diagnostic yield after next-generation sequencing in pediatric cardiovascular disease.
Slavotinek AM et al.
Hgg Advances, 2024
38521975 (PubMed )
Supplement: mmc2.xlsx › Supplementary_table_2
Determinants Affecting the Clinical Implementation of a Molecularly Informed Molecular Tumor Board Recommendation: Experience from a Tertiary Cancer Center.
Tögel L et al.
Cancers, 2023
38136436 (PubMed )
Supplement: cancers-15-05892-s001.zip › Supplementary_Tables.xlsx › Table_S2
Circulating Tumor DNA in Head and Neck Squamous Cell Carcinoma: Association with Metabolic Tumor Burden Determined with FDG-PET/CT.
Silvoniemi A et al.
Cancers, 2023
37568786 (PubMed )
Supplement: cancers-15-03970-s001.zip › cancers-2472979-supplementary.pdf
Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.
Carcavilla A et al.
Journal of Clinical Medicine, 2023
37568403 (PubMed )
Supplement: jcm-12-05003-s001.zip › jcm-2490499-supplementary.pdf
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation.
Bernkopf M et al.
Nature Communications, 2023
36792598 (PubMed )
Supplement: 41467_2023_36606_MOESM4_ESM.xlsx › Supplementary_Data_1
The extended spectrum of RAS-MAPK pathway mutations in colorectal cancer.
Costigan DC et al.
Genes, Chromosomes & Cancer, 2020
A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation.
Jaouadi H et al.
Genetics Research, 2019
Technical Advances for the Clinical Genomic Evaluation of Sudden Cardiac Death: Verification of Next-Generation Sequencing Panels for Hereditary Cardiovascular Conditions Using Formalin-Fixed Paraffin-Embedded Tissues and Dried Blood Spots.
Baudhuin LM et al.
Circulation. Cardiovascular Genetics, 2017
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