Associated Papers
Exploring human plasma proteomic variations in mucolipidosis type IV.
Tobin BR et al.
Molecular Therapy. Methods & Clinical Development, 2025
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM4_ESM.xlsx › Sheet1
The diagnostic yield of CGH and WES in neurodevelopmental disorders.
Alotibi RS et al.
Frontiers in Pediatrics, 2023
Pan-cancer analyses reveal the genetic and pharmacogenomic landscape of transient receptor potential channels.
Pan T et al.
Npj Genomic Medicine, 2022
35614079 (PubMed )
Supplement: 41525_2022_304_MOESM3_ESM.xlsx › Table_S2
Cross-sectional Observations on the Natural History of Mucolipidosis Type IV.
Misko AL et al.
Neurology. Genetics, 2022
Peripheral Inflammatory Cytokine Signature Mirrors Motor Deficits in Mucolipidosis IV.
Misko AL et al.
Cells, 2022
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Alfares A et al.
Bmc Medical Genomics, 2020
32680510 (PubMed )
Supplement: 12920_2020_743_MOESM3_ESM.xlsx › Sheet1
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