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The National Human Genome Research Institute (NHGRI)

The National Human Genome Research Institute (NHGRI) diagram by undefined

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.

Top 20 most recent papers
Nature Communications

Associations of autozygosity with a broad range of human phenotypes

Nature CommunicationsOctober 31, 2019
David W ClarkJames F. Wilson
224
1
3
Cell

Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa

CellOctober 31, 2019
Deepti GurdasaniManj S Sandhu
171
15
1
33
Nature Medicine

Preventing dysbiosis of the neonatal mouse intestinal microbiome protects against late-onset sepsis

Nature MedicineNovember 7, 2019
Jeffrey R SingerCasey T Weaver
12
4
IUBMB Life

Systematic integration of GATA transcription factors and epigenomes via IDEAS paints the regulatory landscape of hematopoietic cells

IUBMB LifeNovember 25, 2019
Ross C. HardisonBerthold D Gottgens
5
Lancet

Muscular dystrophies

LancetNovember 30, 2019
Eugenio M MercuriFrancesco Muntoni
46
1
Science

Genetic regulatory variation in populations informs transcriptome analysis in rare disease

ScienceOctober 12, 2019
Pejman MohammadiTuuli Lappalainen
211
12
1
105
MBio

Plasmid Dissemination and Selection of a Multidrug-Resistant Klebsiella pneumoniae Strain during Transplant-Associated Antibiotic Therapy

MBioOctober 8, 2019
Sean P ConlanJulia A Segre
10
Annals of the Rheumatic Diseases

Type I interferon signature predicts response to JAK inhibition in haploinsufficiency of A20

Annals of the Rheumatic DiseasesNovember 25, 2019
Daniella M SchwartzAmanda K Ombrello
Neurology

Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies

NeurologyOctober 28, 2019
Minal S JainCarsten G Bönnemann
2
American Journal of Human Genetics

Redefining the Etiologic Landscape of Cerebellar Malformations

American Journal of Human GeneticsSeptember 3, 2019
Kimberly A. AldingerWilliam B Dobyns
32
1
12
Scientific Reports

Thymic precursor cells generate acute myeloid leukemia in NUP98-PHF23/NUP98-HOXD13 double transgenic mice

Scientific ReportsNovember 20, 2019
Subhadip KunduPeter D Aplan
1
bioRxiv

Effect of Sequence Depth and Length in Long-read Assembly of the Maize Inbred NC358

bioRxivNovember 29, 2019
Shujun OuDoreen H Ware
32
Genome Biology

Mash Screen: high-throughput sequence containment estimation for genome discovery

Genome BiologyNovember 5, 2019
Brian D. OndovAdam M. Phillippy
125
Journal of Autoimmunity

The challenges of primary biliary cholangitis: What is new and what needs to be done

Journal of AutoimmunitySeptember 25, 2019
Benedetta Terziroli Beretta-PiccoliM. Eric Gershwin
4
11
bioRxiv

Ancient balancing selection maintains incompatible versions of a conserved metabolic pathway in yeast

bioRxivNovember 4, 2019
James BoocockLeonid Kruglyak
70
1
bioRxiv

Human embryoid bodies model basal lamina assembly and muscular dystrophy

bioRxivSeptember 10, 2019
Alec R NickollsCarsten G Bönnemann
5
Neurology

Adult MTM1 -related myopathy carriers: Classification based on deep phenotyping

NeurologySeptember 22, 2019
Benjamin T. CocanougherAileen Reghan Foley
3
2
Human Mutation

Deep-intronic variants in CNGB3 cause achromatopsia by pseudoexon activation

Human MutationSeptember 23, 2019
Nicole WeisschuhSusanne Kohl
Acta Neuropathologica

MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

Acta NeuropathologicaAugust 29, 2019
Sandra DonkervoortTimothy E Shutt
9
1
3
Journal of Neuromuscular Diseases

Identification of a Novel Deep Intronic Mutation in CAPN3 Presenting a Promising Target for Therapeutic Splice Modulation

Journal of Neuromuscular DiseasesAugust 31, 2019
Ying HuCarsten G Bönnemann
4
3

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