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National Human Genome Research Institute | Researchclopedia

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National Human Genome Research Institute

Bethesda, Marylandfacility

12,654

Works

5,182,830

Citations

891

h-index

Top Research Topics

Genetic Associations and Epidemiology Genomics and Rare Diseases BRCA gene mutations in cancer

Top Researchers

Eric S. Lander Broad Institute

897 works521,513 citationsh-index: 271

Recent Research

Stop Reducing Us into Simplistic Numbers: An Academic Outcry!

Ramy K. Aziz,Ahmed Ihab Abdelaziz,et al.

20260 citations

Genomic variations and chromosomal abnormalities

Genomics and Phylogenetic Studies

CRISPR and Genetic Engineering

Epigenetics and DNA Methylation

Genomics and Chromatin Dynamics

Lysosomal Storage Disorders Research

RNA modifications and cancer

Cancer Genomics and Diagnostics

Chromosomal and Genetic Variations

Xiaohong Chen Chongqing University

19,059 works495,119 citationsh-index: 258

Steven L. Salzberg Johns Hopkins University

596 works366,039 citationsh-index: 160

Elaine R. Mardis Nationwide Children's Hospital

1,686 works341,503 citationsh-index: 197

Matthew Meyerson Broad Institute

1,857 works307,599 citationsh-index: 223

Gonçalo R. Abecasis Regeneron (United States)

830 works299,613 citationsh-index: 204

SNP calling, haplotype phasing and allele-specific analysis with long RNA-seq reads

Neng Huang,Raymond Li,et al.

20260 citations

Haplotype‐Based Analysis of <i>OCA2</i> Variants in Oculocutaneous Albinism

M. Gillis,Madeleine Ames,et al.

20260 citations

Epigenetic regulation of HLA-G : implications for recurrent pregnancy loss

Mai M. Shaker,Nesma M. Elaraby,et al.

20260 citations

Bone2Gene: Next-generation Phenotyping of Rare Bone Diseases

Eike Bolmer,Philipp Schmidt,et al.

20260 citations

Characterizing 46,XY Differences of Sex Development: Novel Genetic Variants and Diagnostic Pitfalls in a Single-Center Cohort

Heba Hassan,Mona L. Essawi,et al.

20260 citations