Associated Papers
GA4GH phenopacket-driven characterization of genotype-phenotype correlations in Mendelian disorders.
Rekerle L et al.
American Journal of Human Genetics, 2026
41443197 (PubMed )
Supplement: mmc1.pdf
Genetic Analysis of Patients with Chronic Thromboembolic Pulmonary Hypertension (CTEPH): A Single-Center Observational Study.
Bereczky Z et al.
Genes, 2025
Allogeneic Hematopoietic Stem Cell Transplant for an Unknown Inherited Bone Marrow Failure Syndrome With a Novel Compound Heterozygous Mutation.
Okeleji O et al.
Pediatric Blood & Cancer, 2025
The impact of missense mutation in PIGA associated to paroxysmal nocturnal hemoglobinuria and multiple congenital anomalies-hypotonia-seizures syndrome 2: A computational study.
Agrahari AK et al.
Heliyon, 2019
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9B
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC9_ERR166333
Clinical and molecular aspects of 23 patients affected by paroxysmal nocturnal hemoglobinuria.
Boschetti C et al.
American Journal of Hematology, 2004
The spectrum of PIG-A gene mutations in aplastic anemia/paroxysmal nocturnal hemoglobinuria (AA/PNH): a high incidence of multiple mutations and evidence of a mutational hot spot.
Mortazavi Y et al.
Blood, 2003
Paroxysmal nocturnal hemoglobinuria: insights from recent advances in molecular biology.
Bessler M et al.
Transfusion Medicine Reviews, 2001
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