• Publications
  • Influence
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative and timely knowledgebase of human genes and genetic disorders compiled to support human genetics research and educationExpand
The Sequence of the Human Genome
TLDR
Comparative genomic analysis indicates vertebrate expansions of genes associated with neuronal function, with tissue-specific developmental regulation, and with the hemostasis and immune systems are indicated. Expand
Mendelian Inheritance in Man and Its Online Version, OMIM
  • V. McKusick
  • Biology, Medicine
  • The American Journal of Human Genetics
  • 8 March 2007
TLDR
The rapid progress in an important part of medical genetics and genomics is reviewed, as chronicled in MIM/OMIM over these 40 years, and the future challenges of OMIM are contemplated. Expand
Online Mendelian Inheritance In Man (OMIM)
TLDR
Online Mendelian Inheritance In Man is a public database of bibliographic information about human genes and genetic disorders that is increasingly becoming a major gateway for clinicians, students, and basic researchers to the ever‐growing literature and resources of human genetics. Expand
Implications of the Human Genome Project for medical science.
TLDR
Genomic medicine holds the ultimate promise of revolutionizing the diagnosis and treatment of many illnesses, but much work remains to understand how this "instruction book for human biology" carries out its multitudes of functions. Expand
The genetics of hand malformations.
The Amish.
SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia
TLDR
Comparative sequence analysis indicates that spartin shares similarity with molecules involved in endosomal trafficking and with spastin, a molecule implicated in microtubule interaction that is commonly mutated in HSP. Expand
The Marfan syndrome: diagnosis and management.
THE Marfan syndrome is classified as a heritable disorder of connective tissue because clinical and pathological alterations involve supporting elements. It long has been assumed that an inborn err...
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