The National Human Genome Research Institute (NHGRI)

The National Human Genome Research Institute (NHGRI) supports research focusing on genomics related human health and disease. To stay updated on research published by NHGRI follow this feed.

February 24, 2021

Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features.

Annals of the Rheumatic Diseases
Daniella Muallem SchwartzPamela Frischmeyer-Guerrerio
February 24, 2021

The Ethics of Repurposing Previously Collected Research Biospecimens in an Infectious Disease Pandemic.

Ethics & Human Research
Benjamin E BerkmanSara Chandros Hull
February 23, 2021

Immunopathogenic CSF TCR repertoire signatures in virus-associated neurologic disease.

JCI Insight
Satoshi NozumaSteven Jacobson
February 20, 2021
Open Access

Trans-ethnic meta-analysis identifies new loci associated with longitudinal blood pressure traits.

Scientific Reports
Mateus H GouveiaCharles Rotimi
February 13, 2021
Open Access

Targeting the 5' untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy.

Molecular Therapy. Nucleic Acids
Audrey M WinkelsasKenneth H Fischbeck
February 12, 2021
Open Access

From one human genome to a complex tapestry of ancestry.

Nature
Charles Rotimi, Adebowale A Adeyemo
February 10, 2021
Open Access

An examination of the relationships between attention/deficit hyperactivity disorder symptoms and functional connectivity over time.

Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology
Luke NormanPhilip Shaw
February 10, 2021
Open Access

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy.

Brain : a Journal of Neurology
Alistair T PagnamentaHenry Houlden
February 6, 2021

A dihydrofolate reductase 2 (DHFR2) variant is associated with risk of neural tube defects in an Irish cohort but not in a United Kingdom cohort.

American Journal of Medical Genetics. Part a
Faith PangilinanAnne Parle-McDermott
February 6, 2021
Open Access

The genomic structure of a human chromosome 22 nucleolar organizer region determined by TAR cloning.

Scientific Reports
Jung-Hyun KimVladimir Larionov
February 4, 2021
Open Access

An ethics framework for consolidating and prioritizing COVID-19 clinical trials.

Clinical Trials : Journal of the Society for Clinical Trials
Michelle N MeyerHolly Fernandez Lynch
February 3, 2021

Characterization of genetically defined sporadic and hereditary type 1 papillary renal cell carcinoma cell lines.

Genes, Chromosomes & Cancer
Youfeng YangW Marston Linehan
February 2, 2021
Open Access

Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation.

Science Advances
David B BeckAchim Werner
January 23, 2021

Ancient balancing selection maintains incompatible versions of the galactose pathway in yeast.

Science
James BoocockLeonid Kruglyak
January 22, 2021
Open Access

Low incidence of hepatocellular carcinoma in mice and cats treated with systemic adeno-associated viral vectors.

Molecular Therapy. Methods & Clinical Development
Rita FerlaAlberto Auricchio
January 19, 2021

A New Ethical Framework for Assessing the Unique Challenges of Fetal Therapy Trials

The American Journal of Bioethics : AJOB
Saskia HendriksBenjamin E Berkman

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