European Bioinformatics Institute
85 papers found
Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer’s disease risk genes
Genome-wide meta-analysis, fine-mapping, and integrative prioritization identify new Alzheimer's disease risk genes
Publisher Correction: Molecular and functional variation in iPSC-derived sensory neurons
Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease.
Molecular and functional variation in iPSC-derived sensory neurons
Very low depth whole genome sequencing in complex trait association studies
The Genetic Epidemiology of Developmental Dysplasia of the Hip: A Genome-Wide Association Study Harnessing National Clinical Audit Data
Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits
Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits
Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet.
A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations
Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression.
Loss of the arginine methyltranserase PRMT7 causes syndromic intellectual disability with microcephaly and brachydactyly.
A novel multisystem disease associated with recessive mutations in the tyrosyl-tRNA synthetase (YARS) gene.
Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency.
Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy
Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities
Joubert Syndrome in French Canadians and Identification of Mutations in CEP104
Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
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