Associated Papers
The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.
Maksiutenko EM et al.
International Journal of Molecular Sciences, 2023
38139401 (PubMed )
Supplement: ijms-24-17572-s001.zip › Supplementary_Table_S1.xlsx › Sheet1
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.
Oddsson A et al.
Nature Communications, 2023
Caspase-9: A Multimodal Therapeutic Target With Diverse Cellular Expression in Human Disease.
Avrutsky MI et al.
Frontiers in Pharmacology, 2021
Rare genetic variants suggest dysregulation of signaling pathways in low- and high-risk patients developing severe ovarian hyperstimulation syndrome.
Borgwardt L et al.
Journal of Assisted Reproduction and Genetics, 2020
In search of genetic factors predisposing to familial hairy cell leukemia (HCL): exome-sequencing of four multiplex HCL pedigrees.
Pemov A et al.
Leukemia, 2020
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM11_ESM.xlsx › SD7_-_Drug_Targets
Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects.
Spellicy CJ et al.
European Journal of Human Genetics : Ejhg, 2018
A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation.
Clemente N et al.
Genes and Immunity, 2015
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