Associated Papers
A Copernican revolution of multigenic analysis: A retrospective study on clinical exome sequencing in unclear genetic disorders.
Chetta M et al.
Computational and Structural Biotechnology Journal, 2024
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS09_het
RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.
Wong S et al.
Embo Molecular Medicine, 2023
37066513 (PubMed )
Supplement: EMMM-15-e17078-s005.xlsx › Hets
Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.
Maciąg A et al.
Bmc Genetics, 2015
25888430 (PubMed )
Supplement: 12863_2015_177_MOESM1_ESM.xls › Sheet1
Integrated analysis of germline and somatic variants in ovarian cancer.
Kanchi KL et al.
Nature Communications, 2014
24448499 (PubMed )
Supplement: NIHMS551112-supplement-19.xlsx › S_Data_18
Patterns of nucleotide and haplotype diversity at ICAM-1 across global human populations with varying levels of malaria exposure.
Gomez F et al.
Human Genetics, 2013
Genome-wide survey of interindividual differences of RNA stability in human lymphoblastoid cell lines.
Duan J et al.
Scientific Reports, 2013
23422947 (PubMed )
Supplement: srep01318-s2.xls › S7
Molecular investigation of the functional relevance of missense variants of ICAM-1.
Vischer P et al.
Pharmacogenetics and Genomics, 2008
ICAM1 R241 is not associated with celiac disease in the Spanish population.
Dema B et al.
Human Immunology, 2008
ICAM1 amino-acid variant K469E is associated with paediatric bronchial asthma and elevated sICAM1 levels.
Puthothu B et al.
Genes and Immunity, 2006
Select a paper to view details