Associated Papers
VarMeter2: An enhanced structure-based method for predicting pathogenic missense variants through Mahalanobis distance.
Ohno S et al.
Computational and Structural Biotechnology Journal, 2025
HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K.
Xu J et al.
European Journal of Neurology, 2024
The Genetic Basis of Strokes in Pediatric Populations and Insight into New Therapeutic Options.
Jankovic M et al.
International Journal of Molecular Sciences, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.
Brancaccio M et al.
Diagnostics (basel, Switzerland), 2021
Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.
Zhou Y et al.
Science Advances, 2021
Harnessing the paradoxical phenotypes of APOE ɛ2 and APOE ɛ4 to identify genetic modifiers in Alzheimer's disease.
Kim YW et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2021
Role of platelet gene polymorphisms in ischemic pediatric stroke subtypes: a case-control study.
Čeri A et al.
Croatian Medical Journal, 2020
Introducing the first whole genomes of nationals from the United Arab Emirates.
AlSafar HS et al.
Scientific Reports, 2019
A new discrepancy of HPA-3 genotyping because of a rare HPA-27bw polymorphism.
Bertrand G et al.
Transfusion Medicine (oxford, England), 2017
Tumor Sequencing and Patient-Derived Xenografts in the Neoadjuvant Treatment of Breast Cancer.
Goetz MP et al.
Journal of the National Cancer Institute, 2017
Recent advances in understanding the clinical relevance of antiplatelet alloantibodies.
Guz K et al.
Polish Archives of Internal Medicine, 2017
Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.
Fang H et al.
Bmc Medical Genomics, 2017
Identification of ITGA2B and ITGB3 Single-Nucleotide Polymorphisms and Their Influences on the Platelet Function.
Xiang Q et al.
Biomed Research International, 2016
αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia.
Buitrago L et al.
Proceedings of the National Academy of Sciences of the United States of America, 2015
Molecular pathology of rare bleeding disorders (RBDs) in India: a systematic review.
Kulkarni BP et al.
Plos One, 2014
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Frequency of human platelet antigens in oncohematological patients with thrombocytopenia and the probability of incompatibility to platelet transfusions.
Bianchi JV et al.
Revista Brasileira De Hematologia E Hemoterapia, 2012
Simultaneous genotyping of human platelet antigen-1 to 17w by polymerase chain reaction sequence-based typing.
Xu X et al.
Vox Sanguinis, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Novel mutations in GP IIb gene in Glanzmann's thrombasthenia from India.
Vijapurkar M et al.
Platelets, 2009
Japanese single nucleotide polymorphism database for 267 possible drug-related genes.
Iida A et al.
Cancer Science, 2006
A 13-bp deletion in alpha(IIb) gene is a founder mutation that predominates in Palestinian-Arab patients with Glanzmann thrombasthenia.
Rosenberg N et al.
Journal of Thrombosis and Haemostasis : Jth, 2005
Evidence for megakaryocyte engraftment following reduced-intensity conditioning.
French DL et al.
Experimental Hematology, 2004
Catalog of 178 variations in the Japanese population among eight human genes encoding G protein-coupled receptors (GPCRs).
Saito S et al.
Journal of Human Genetics, 2003
[SNP collection, pharmacogenomics, and the future of drug therapy].
Iida A et al.
Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2002
Molecular typing of human platelet antigens in immune thrombocytopenia patients in northern Brazil.
Carmo JCD et al.
Revista Brasileira De Hematologia E Hemoterapia, 0