Associated Papers
A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.
Galbo PM et al.
The Journal of Molecular Diagnostics : Jmd, 2025
40158885 (PubMed )
Supplement: mmc8.xlsx › Sheet1
The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort.
Zanoni P et al.
European Journal of Human Genetics : Ejhg, 2023
The functional landscape of the human phosphoproteome.
Ochoa D et al.
Nature Biotechnology, 2020
31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM5_ESM.xlsx › S4
Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.
Yehia L et al.
Plos Genetics, 2018
29684080 (PubMed )
Supplement: pgen.1007352.s010.xlsx › S9_Table
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt
Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.
Kiel C et al.
Molecular Systems Biology, 2014
24803665 (PubMed )
Supplement: MSB-10-5-727-s13.xls › energies
Detection of novel NF1 mutations and rapid mutation prescreening with Pyrosequencing.
Brinckmann A et al.
Electrophoresis, 2007
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