GOing Forward With the Cardiac Conduction System Using Gene Ontology.
PMID:35309148
Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.
PMID:35246524
GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data.
PMID:35234913
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
PMID:35197628
An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases.
PMID:35087072
Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?
PMID:34946867
SSBP1-Disease Update: Expanding the Genetic and Clinical Spectrum, Reporting Variable Penetrance and Confirming Recessive Inheritance.
PMID:34905022
Poking COVID-19: Insights on Genomic Constraints among Immune-Related Genes between Qatari and Italian Populations.
PMID:34828448
Cost-Effectiveness of Targeted Exome Analysis as a Diagnostic Test in Glomerular Diseases.
PMID:34805637
A contemporary clinical approach to genetic testing for heritable hyperparathyroidism syndromes.
PMID:34773560
Biallelic truncation variants in ATP9A are associated with a novel autosomal recessive neurodevelopmental disorder.
PMID:34764295
Network analysis reveals rare disease signatures across multiple levels of biological organization.
PMID:34753928
Mitochondrial-nuclear cross-talk in the human brain is modulated by cell type and perturbed in neurodegenerative disease.
PMID:34737414
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
PMID:34732400
PRDM12 Is Transcriptionally Active and Required for Nociceptor Function Throughout Life.
PMID:34646120
Gene.iobio: an interactive web tool for versatile, clinically-driven variant interrogation and prioritization.
PMID:34645894
Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.
PMID:34607911
Whole genome sequencing in the diagnosis of primary ciliary dyskinesia.
PMID:34556108
Biomolecule and Bioentity Interaction Databases in Systems Biology: A Comprehensive Review.
PMID:34439912
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis.
PMID:34429528
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.
PMID:34329581
Principles of Genomic Newborn Screening Programs: A Systematic Review.
PMID:34283230
Late diagnoses of Dravet syndrome: How many individuals are we missing?
PMID:34268891
Oligogenic Inheritance of Monoallelic TRIP11, FKBP10, NEK1, TBX5, and NBAS Variants Leading to a Phenotype Similar to Odontochondrodysplasia.
PMID:34149817
Evaluating the clinical utility of early exome sequencing in diverse pediatric outpatient populations in the North Carolina Clinical Genomic Evaluation of Next-generation Exome Sequencing (NCGENES) 2 study: a randomized controlled trial.
PMID:34127041
A framework for automated gene selection in genomic applications.
PMID:34113001
Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.
PMID:33938912
The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases.
PMID:33924139
MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes.
PMID:33836063
Shared heritability of human face and brain shape.
PMID:33821002
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
PMID:33726816
CoExp: A Web Tool for the Exploitation of Co-expression Networks.
PMID:33719340
Diagnostic yield of genetic testing in a heterogeneous cohort of 1376 HCM patients.
PMID:33673806
Next-Generation Sequencing in the Field of Primary Immunodeficiencies: Current Yield, Challenges, and Future Perspectives.
PMID:33666867
Prenatal Exome Sequencing: Background, Current Practice and Future Perspectives-A Systematic Review.
PMID:33540854
Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.
PMID:33534821
Genetics of Peripartum Cardiomyopathy: Current Knowledge, Future Directions and Clinical Implications.
PMID:33467574
Assessing the Role of Rare Genetic Variation in Patients With Heart Failure.
PMID:33326012
Hereditary Hypertrophic Cardiomyopathy in Children and Young Adults-The Value of Reevaluating and Expanding Gene Panel Analyses.
PMID:33302605
No association between SCN9A and monogenic human epilepsy disorders.
PMID:33216760
Identification of UBAP1 mutations in juvenile hereditary spastic paraplegia in the 100,000 Genomes Project.
PMID:32934340
The role of host genetics in susceptibility to severe viral infections in humans and insights into host genetics of severe COVID-19: A systematic review.
PMID:32918943
Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population.
PMID:32907636
Sarcoma and the 100,000 Genomes Project: our experience and changes to practice.
PMID:32573957
GlyGen data model and processing workflow.
PMID:32324859
Inherited Tubulopathies of the Kidney: Insights from Genetics.
PMID:32238367
Genomic loci susceptible to systematic sequencing bias in clinical whole genomes.
PMID:32156711
Inherited Renal Tubulopathies-Challenges and Controversies.
PMID:32150856
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
PMID:32050448
Incremental data integration for tracking genotype-disease associations.
PMID:31986132