Associated Papers
Proof-of-principle: nanopore adaptive sampling enables full blood group genome analysis and resolution of hybrid alleles.
Gueuning M et al.
Blood Advances, 2026
Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.
Villa M et al.
British Journal of Cancer, 2024
The PARP1 selective inhibitor saruparib (AZD5305) elicits potent and durable antitumor activity in patient-derived BRCA1/2-associated cancer models.
Herencia-Ropero A et al.
Genome Medicine, 2024
Polymorphisms in Immune Genes and Their Association with Tuberculosis Susceptibility: An Analysis of the African Population.
Wodelo W et al.
The Application of Clinical Genetics, 2024
Distinct Genetically Determined Origins of Myd88/BCL2-Driven Aggressive Lymphoma Rationalize Targeted Therapeutic Intervention Strategies.
Flümann R et al.
Blood Cancer Discovery, 2023
Common and rare variants in patients with early onset drusen maculopathy.
de Breuk A et al.
Clinical Genetics, 2022
Using whole-genome sequencing to characterize clinically significant blood groups among healthy older Australians.
Jadhao S et al.
Blood Advances, 2022
TREM2 Gene Compound Heterozygosity in Neurodegenerative Disorders.
Berdyński M et al.
Journal of Alzheimer's Disease : Jad, 2022
Family-Based Whole-Exome Analysis of Specific Language Impairment (SLI) Identifies Rare Variants in BUD13, a Component of the Retention and Splicing (RES) Complex.
Andres EM et al.
Brain Sciences, 2021
Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.
Blumenau S et al.
Scientific Reports, 2020
Spatially conserved motifs in complement control protein domains determine functionality in regulators of complement activation-family proteins.
Ojha H et al.
Communications Biology, 2019
Whole-Genome Sequencing Identifies a Novel Variation of WAS Gene Coordinating With Heterozygous Germline Mutation of APC to Enhance Hepatoblastoma Oncogenesis.
Zhang L et al.
Frontiers in Genetics, 2018
Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.
Broutier L et al.
Nature Medicine, 2017
Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations.
Li YY et al.
Nature Communications, 2017
Regulators of complement activity mediate inhibitory mechanisms through a common C3b-binding mode.
Forneris F et al.
The Embo Journal, 2016
Innate immune gene polymorphisms in tuberculosis.
Azad AK et al.
Infection and Immunity, 2012
DNA sequence variation and regulation of genes involved in pathogenesis of pulmonary tuberculosis.
Qidwai T et al.
Scandinavian Journal of Immunology, 2012
A functional single-nucleotide polymorphism in the CR1 promoter region contributes to protection against cerebral malaria.
Teeranaipong P et al.
The Journal of Infectious Diseases, 2008
Large-scale candidate gene study of tuberculosis susceptibility in the Karonga district of northern Malawi.
Fitness J et al.
The American Journal of Tropical Medicine and Hygiene, 2004
Quantitative alleles of CR1: coding sequence analysis and comparison of haplotypes in two ethnic groups.
Xiang L et al.
Journal of Immunology (baltimore, Md. : 1950), 1999