about
Mutations in ARID2 are associated with intellectual disabilities.ClinVar data parsingChromatin and sequence features that define the fine and gross structure of genomic methylation patterns.Health and population effects of rare gene knockouts in adult humans with related parentsIncreased DNA methylation in the suicide brain.MethylomeDB: a database of DNA methylation profiles of the brain.Estimating the selective effects of heterozygous protein-truncating variants from human exome data.Quantifying prion disease penetrance using large population control cohortsRole of CpG context and content in evolutionary signatures of brain DNA methylation.Mammalian cytosine methylation at a glance.A Clinician's perspective on clinical exome sequencing.Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.Methylation Abnormalities in Mammary Carcinoma: The Methylation Suicide Hypothesis.Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.Using high-resolution variant frequencies to empower clinical genome interpretation.Solvent isotope effects on alpha-glucosidase.Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure.Brain MRS glutamine as a biomarker to guide therapy of hyperammonemic coma.Age-related sperm DNA methylation changes are transmitted to offspring and associated with abnormal behavior and dysregulated gene expression.The Genetic Landscape of Diamond-Blackfan AnemiaUsing High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecturematchbox: An open-source tool for patient matching via the Matchmaker ExchangeMegaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature ReviewIdentification of pathogenic variant enriched regions across genes and gene familiesReply to 'Selective effects of heterozygous protein-truncating variants'Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomesCharacterising the loss-of-function impact of 5' untranslated region variants in 15,708 individualsA structural variation reference for medical and population geneticsThe mutational constraint spectrum quantified from variation in 141,456 humansTranscript expression-aware annotation improves rare variant interpretation
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description
hulumtuese
@sq
researcher
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wetenschapper
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հետազոտող
@hy
name
Anne H O'Donnell-Luria
@ast
Anne H O'Donnell-Luria
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Anne H O'Donnell-Luria
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Anne H O'Donnell-Luria
@nl
type
label
Anne H O'Donnell-Luria
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Anne H O'Donnell-Luria
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Anne H O'Donnell-Luria
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Anne H O'Donnell-Luria
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Anne O'Donnell-Luria
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prefLabel
Anne H O'Donnell-Luria
@ast
Anne H O'Donnell-Luria
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Anne H O'Donnell-Luria
@es
Anne H O'Donnell-Luria
@nl
P106
P21
P31
P496
0000-0001-6418-9592