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.

August 17, 2020

The clinical, histological, and genotypic spectrum of SEPN1-related myopathy: A case series

Neurology
Rocio N Villar-QuilesAna Ferreiro
September 16, 2020
Open Access

Merqury: reference-free quality, completeness, and phasing assessment for genome assemblies

Genome Biology
Arang RhieAdam M Phillippy
July 24, 2020
Correction
Open Access

Author Correction: A robust benchmark for detection of germline large deletions and insertions

Nature Biotechnology
Justin M ZookMarc Salit
September 7, 2020

Deficiency of adenosine deaminase 2 (DADA2) in Adults and Children: Experience from India

Arthritis & Rheumatology
Aman SharmaPui Y Lee
August 28, 2020
Review
Open Access

LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness

Frontiers in Molecular Neuroscience
Anna SarkozyFrancesco Muntoni
July 16, 2020

A20 Haploinsufficiency Presenting with a Combined Immunodeficiency

Journal of Clinical Immunology
Melissa D GansArye Rubinstein
September 2, 2020

Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women with Hypothalamic Amenorrhea

The Journal of Clinical Endocrinology and Metabolism
Angela DelaneyJanet E Hall
September 14, 2020
Clinical Trial

250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6-8 September 2019, Hoofdorp, the Netherlands

Neuromuscular Disorders : NMD
Sarah B Neuhausnemaline working group
August 11, 2020

Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome

American Journal of Medical Genetics. Part a
Sandra DonkervoortCarsten G Bönnemann
July 24, 2020

Reply to E. Hindié

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology
Andrea MaurichiMario Santinami
August 21, 2020

Cardiac MRI identifies valvular and myocardial disease in a subset of ANO5-related muscular dystrophy patients

Neuromuscular Disorders : NMD
Ranjini SrinivasanCarsten G Bönnemann
August 12, 2020
Open Access

Letter to the Editor

Human Gene Therapy
Perry B ShiehAndreea M Seferian
September 16, 2020

Emergency Department Utilization for Patients Living With Sickle Cell Disease: Psychosocial Predictors of Health Care Behaviors

Annals of Emergency Medicine
Khadijah AbdallahVence L Bonham
September 10, 2020
Open Access

Obesity and Hypertension in the Time of COVID-19

JAMA : the Journal of the American Medical Association
Griffin P Rodgers, Gary H Gibbons
August 4, 2020
Open Access

A passive monitoring tool using hospital administrative data enables earlier specific detection of healthcare-acquired infections

The Journal of Hospital Infection
Jeffrey RewleyFelix Reed-Tsochas
August 31, 2020

A multi-dimensional analysis of genotype-phenotype discordance in malignant hyperthermia susceptibility

British Journal of Anaesthesia
Carlos A Ibarra MorenoSheila Riazi
September 8, 2020
Preprint
Open Access

The structure, function, and evolution of a complete human chromosome 8

BioRxiv : the Preprint Server for Biology
G. A. LogsdonEvan E Eichler

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Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Bone Marrow Neoplasms

Bone Marrow Neoplasms are cancers that occur in the bone marrow. Discover the latest research on Bone Marrow Neoplasms here.

IGA Glomerulonephritis

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Cryogenic Electron Microscopy

Cryogenic electron microscopy (Cryo-EM) allows the determination of biological macromolecules and their assemblies at a near-atomic resolution. Here is the latest research.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

LRRK2 & Immunity During Infection

Mutations in the LRRK2 gene are a risk-factor for developing Parkinson’s disease. However, LRRK2 has been shown to function as a central regulator of vesicular trafficking, infection, immunity, and inflammation. Here is the latest research on the role of this kinase on immunity during infection.

Antiphospholipid Syndrome

Antiphospholipid syndrome or antiphospholipid antibody syndrome (APS or APLS), is an autoimmune, hypercoagulable state caused by the presence of antibodies directed against phospholipids.

Meningococcal Myelitis

Meningococcal myelitis is characterized by inflammation and myelin damage to the meninges and spinal cord. Discover the latest research on meningococcal myelitis here.

Alzheimer's Disease: MS4A

Variants within membrane-spanning 4-domains subfamily A (MS4A) gene cluster have recently been implicated in Alzheimer's disease by recent genome-wide association studies. Here is the latest research.

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