Human Genome Organization

Known as: HUGO, Human Genome Organisation 
An international organization of scientists involved in human genetics. Established in 1989 by a collection of the world's leading human geneticists… (More)
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2016
Highly Cited
2016
The consistent and unambiguous description of sequence variants is essential to report and exchange information on the analysis… (More)
  • table 1
  • table 2
  • figure 1
  • table 3
  • table 4
Is this relevant?
2014
2014
Hereditary systemic amyloidosis comprises a group of rare monogenic diseases inherited in an autosomal dominant fashion. It is… (More)
Is this relevant?
2009
2009
The generation of various phosphoinositide messenger molecules at distinct locations within the cell is mediated via the specific… (More)
  • table 1
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
Highly Cited
2005
Highly Cited
2005
We present BITOLA, an interactive literature-based biomedical discovery support system. The goal of this system is to discover… (More)
  • figure 1
  • figure 2
  • figure 4
Is this relevant?
2005
2005
Hereditary spastic paraplegia (HSP) is a neurodegenerative disease characterized by lower-limb spasticity, hyperreflexia… (More)
Is this relevant?
Review
2003
Review
2003
Fibrillin is the major component of extracellular microfibrils. Mutations in the fibrillin gene on chromosome 15 (FBN1) were… (More)
Is this relevant?
2002
2002
The Human Genome Project, the mapping of our 30 00–50 000 genes and the sequencing of all of our DNA, will have major impact on… (More)
Is this relevant?
2002
2002
We determined inactivation of the CDKN2A (p16(INK4a) and p14(ARF)) gene in 21 cases of oesophageal squamous cell carcinoma (OSCC… (More)
Is this relevant?
2001
2001
'Nomenclature of the Human Immunoglobulin Heavy (IGH) Genes', the 16th report of the 'IMGT Locus in Focus' section, provides the… (More)
  • figure 1
  • figure 3
Is this relevant?
2001
2001
The human immunoglobulins (Ig) are the products of three unlinked sets of genes: the immunoglobulin heavy (IGH), the… (More)
Is this relevant?