Associated Papers
Whole-Genome Landscape of Retinal Hemangioblastomas.
Bals K et al.
Translational Vision Science & Technology, 2026
41533848 (PubMed )
Supplement: tvst-15-1-5_s003.xlsx › Supplementary_Table_2
Polymorphic pseudogenes in the human genome - a comprehensive assessment.
Lopes-Marques M et al.
Human Genetics, 2024
39488654 (PubMed )
Supplement: 439_2024_2715_MOESM7_ESM.xlsx › Additional_table_1
Rare loss-of-function variants in matrisome genes are enriched in Ebstein's anomaly.
Zhou Z et al.
Hgg Advances, 2024
38006208 (PubMed )
Supplement: mmc1.pdf
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index
Nonsynonymous SNPs in LPA homologous to plasminogen deficiency mutants represent novel null apo(a) alleles.
Morgan BM et al.
Journal of Lipid Research, 2020
Whole Genome Sequence, Variant Discovery and Annotation in Mapuche-Huilliche Native South Americans.
Vidal EA et al.
Scientific Reports, 2019
30765821 (PubMed )
Supplement: 41598_2019_39391_MOESM2_ESM.xlsx › Table_S9
Genetic pleiotropy between mood disorders, metabolic, and endocrine traits in a multigenerational pedigree.
Kember RL et al.
Translational Psychiatry, 2018
Revisiting the morbid genome of Mendelian disorders.
Abouelhoda M et al.
Genome Biology, 2016
27884173 (PubMed )
Supplement: 13059_2016_1102_MOESM5_ESM.pdf
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 2016
27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table19.xlsx › SI_Table_19
Structure, function, and genetics of lipoprotein (a).
Schmidt K et al.
Journal of Lipid Research, 2016
Distribution and medical impact of loss-of-function variants in the Finnish founder population.
Lim ET et al.
Plos Genetics, 2014
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
Cooper DN et al.
Human Genetics, 2013
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