OMIM. org: leveraging knowledge across phenotype–gene relationships
JS Amberger, CA Bocchini, AF Scott… - Nucleic acids …, 2019 - academic.oup.com
Abstract For over 50 years Mendelian Inheritance in Man has chronicled the collective
knowledge of the field of medical genetics. It initially cataloged the known X-linked …
knowledge of the field of medical genetics. It initially cataloged the known X-linked …
OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders
JS Amberger, CA Bocchini, F Schiettecatte… - Nucleic acids …, 2015 - academic.oup.com
Abstract Online Mendelian Inheritance in Man, OMIM®, is a comprehensive, authoritative
and timely research resource of curated descriptions of human genes and phenotypes and …
and timely research resource of curated descriptions of human genes and phenotypes and …
A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)
J Amberger, C Bocchini, A Hamosh - Human mutation, 2011 - Wiley Online Library
OMIM's task of cataloging the association between human phenotypes and their causative
genes (the Morbid Map of the Genome) and classifying and naming newly recognized …
genes (the Morbid Map of the Genome) and classifying and naming newly recognized …
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
Abstract Online Mendelian Inheritance in Man (OMIM™) is a comprehensive, authoritative
and timely knowledgebase of human genes and genetic disorders compiled to support …
and timely knowledgebase of human genes and genetic disorders compiled to support …
Searching online mendelian inheritance in man (OMIM): a knowledgebase of human genes and genetic phenotypes
JS Amberger, A Hamosh - Current protocols in bioinformatics, 2017 - Wiley Online Library
Abstract Online Mendelian Inheritance in Man (OMIM) at OMIM. org is the primary repository
of comprehensive, curated information on genes and genetic phenotypes and the …
of comprehensive, curated information on genes and genetic phenotypes and the …
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
Abstract Online Mendelian Inheritance in Man (OMIM™) is a comprehensive, authoritative
and timely knowledgebase of human genes and genetic disorders compiled to support …
and timely knowledgebase of human genes and genetic disorders compiled to support …
Centers for Mendelian Genomics: A decade of facilitating gene discovery
Purpose Mendelian disease genomic research has undergone a massive transformation
over the past decade. With increasing availability of exome and genome sequencing, the …
over the past decade. With increasing availability of exome and genome sequencing, the …
Classification of genes: standardized clinical validity assessment of gene–disease associations aids diagnostic exome analysis and reclassifications
ED Smith, K Radtke, M Rossi, DN Shinde… - Human …, 2017 - Wiley Online Library
Ascertaining a diagnosis through exome sequencing can provide potential benefits to
patients, insurance companies, and the healthcare system. Yet, as diagnostic sequencing is …
patients, insurance companies, and the healthcare system. Yet, as diagnostic sequencing is …
Online Mendelian inheritance in man (OMIM)
Abstract Online Mendelian Inheritance In Man (OMIM) is a public database of bibliographic
information about human genes and genetic disorders. Begun by Dr. Victor McKusick as the …
information about human genes and genetic disorders. Begun by Dr. Victor McKusick as the …
Online mendelian inheritance in man (OMIM®): Victor McKusick's magnum opus
A Hamosh, JS Amberger, C Bocchini… - American Journal of …, 2021 - Wiley Online Library
Victor McKusick's many contributions to medicine are legendary, but his magnum opus is
Mendelian Inheritance in Man (MIM), his catalog of Mendelian phenotypes and their …
Mendelian Inheritance in Man (MIM), his catalog of Mendelian phenotypes and their …