An accurate prediction model of digenic interaction for estimating pathogenic gene pairs of human diseases.
PMID:35891796
New Developments and Possibilities in Reanalysis and Reinterpretation of Whole Exome Sequencing Datasets for Unsolved Rare Diseases Using Machine Learning Approaches.
PMID:35743235
Scaling up oligogenic diseases research with OLIDA: the Oligogenic Diseases Database.
PMID:35411390
Identification of Novel Mutations in Chinese Infants With Citrullinemia.
PMID:35309121
Rare disorders have many faces: in silico characterization of rare disorder spectrum.
PMID:35193637
Can the Synergic Contribution of Multigenic Variants Explain the Clinical and Cellular Phenotypes of a Neurodevelopmental Disorder?
PMID:35052418
Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.
PMID:34829491
Multiallelic Rare Variants in BBS Genes Support an Oligogenic Ciliopathy in a Non-obese Juvenile-Onset Syndromic Diabetic Patient: A Case Report.
PMID:34691137
Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network.
PMID:34529933
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.
PMID:34448047
Digenic Variants in the TTN and TRAPPC11 Genes Co-segregating With a Limb-Girdle Muscular Dystrophy in a Han Chinese Family.
PMID:33746696
The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.
PMID:33519890
The GENDULF algorithm: mining transcriptomics to uncover modifier genes for monogenic diseases.
PMID:33438800
Usher syndrome and Nebulin-associated myopathy in a single patient due to variants in MYO7A and NEB.
PMID:33363762
MitImpact 3: modeling the residue interaction network of the Respiratory Chain subunits.
PMID:33300029
A genome-wide case-only test for the detection of digenic inheritance in human exomes.
PMID:32719112
Digenic Heterozygous Mutations in SLC34A3 and SLC34A1 Cause Dominant Hypophosphatemic Rickets with Hypercalciuria.
PMID:32311027
Precision medicine - networks to the rescue.
PMID:32199228
Genetic Modifiers and Rare Mendelian Disease.
PMID:32106447
Digenic Variants as Possible Clinical Modifier of Primary Familial Brain Calcification Patients.
PMID:31768941
Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways.
PMID:31696992
Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss.
PMID:31412945
ORVAL: a novel platform for the prediction and exploration of disease-causing oligogenic variant combinations.
PMID:31147699
Predicting disease-causing variant combinations.
PMID:31127050
Uncovering Missing Heritability in Rare Diseases.
PMID:30987386
Semantic Disease Gene Embeddings (SmuDGE): phenotype-based disease gene prioritization without phenotypes.
PMID:30423077
Limb Girdle Muscular Dystrophy due to Digenic Inheritance of DES and CAPN3 Mutations.
PMID:30323756
OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants.
PMID:30279426
The classification, genetic diagnosis and modelling of monogenic autoinflammatory disorders.
PMID:30185613
Computational resources associating diseases with genotypes, phenotypes and exposures.
PMID:30102366
Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.
PMID:29867916
Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features.
PMID:29599744
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.
PMID:29588463
Clinical Implications of Digenic Inheritance and Epistasis in Primary Immunodeficiency Disorders.
PMID:29434582
Diagnostic application of clinical exome sequencing in Leber congenital amaurosis.
PMID:28966547
Understanding mutational effects in digenic diseases.
PMID:28911095
eDGAR: a database of Disease-Gene Associations with annotated Relationships among genes.
PMID:28812536
Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome.
PMID:28453858
CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism.
PMID:28324054
Comprehensive Maturity Onset Diabetes of the Young (MODY) Gene Screening in Pregnant Women with Diabetes in India.
PMID:28095440
InterPro in 2017-beyond protein family and domain annotations.
PMID:27899635
The Human Phenotype Ontology in 2017.
PMID:27899602
Social Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.
PMID:27627659
Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1.
PMID:27086651
The 2016 database issue of Nucleic Acids Research and an updated molecular biology database collection.
PMID:26740669