Associated Papers
Börjeson-Forssman-Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families.
Jain V et al.
European Journal of Human Genetics : Ejhg, 2023
37704779 (PubMed )
Supplement: 41431_2023_1447_MOESM1_ESM.pdf
A human mitofusin 2 mutation can cause mitophagic cardiomyopathy.
Franco A et al.
Elife, 2023
37910431 (PubMed )
Supplement: elife-84235-fig1-data1.xlsx › Sheet1
Stepwise ABC system for classification of any type of genetic variant.
Houge G et al.
European Journal of Human Genetics : Ejhg, 2022
33981013 (PubMed )
Supplement: 41431_2021_903_MOESM2_ESM.xlsx › Ark1
RUNX1 mutations in blast-phase chronic myeloid leukemia associate with distinct phenotypes, transcriptional profiles, and drug responses.
Adnan Awad S et al.
Leukemia, 2021
32782381 (PubMed )
Supplement: 41375_2020_1011_MOESM5_ESM.xlsx › Mutations_of_BP-CML_cohort
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