Associated Papers
The c.2031-2A>C MPO gene variant and the predisposition to myeloid neoplasms.
Crocioni M et al.
Annals of Hematology, 2025
40601008 (PubMed )
Supplement: 277_2025_6484_MOESM1_ESM.pdf
Case report: Chorea and cognitive decline in a young woman: instrumental and genetic assessment of a case originally diagnosed as multiple sclerosis.
Dato C et al.
Frontiers in Genetics, 2023
Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates.
Spedicati B et al.
European Journal of Human Genetics : Ejhg, 2021
An update on genetic basis of generalized pustular psoriasis (Review).
Zhou J et al.
International Journal of Molecular Medicine, 2021
Evaluating the molecular diagnostic yield of joint genotyping-based approach for detecting rare germline pathogenic and putative loss-of-function variants.
Camp SY et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Myeloperoxidase Modulates Inflammation in Generalized Pustular Psoriasis and Additional Rare Pustular Skin Diseases.
Haskamp S et al.
American Journal of Human Genetics, 2020
32758447 (PubMed )
Supplement: mmc1.pdf
Loss-of-Function Myeloperoxidase Mutations Are Associated with Increased Neutrophil Counts and Pustular Skin Disease.
Vergnano M et al.
American Journal of Human Genetics, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
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