Concepedia

Joanna Amberger

JA

13

Publications

6.3K

Citations

13

H-Index

1996

Active since

Affiliations

Johns Hopkins University(Current)

Johns Hopkins Medicine

National Institutes of Health

Orphanet

Autism & Developmental Medicine Institute

Joanna Amberger is an author at Johns Hopkins University specializing in medicine, genetics, and bioinformatics.

Top concepts

Publications per year

1996–2023

13

Publications

13

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

Joanna Amberger, Carol Bocchini, François Schiettecatte et al. · Nucleic Acids Research · 2014 · 2.6K citations · Full text

Online Mendelian Inheritance In Man (OMIM)

Ada Hamosh, Alan L. Scott, Joanna Amberger et al. · Human Mutation · 2000 · 1.2K citations · Full text

, , +19

OMIM.org: leveraging knowledge across phenotype–gene relationships

Joanna Amberger, Carol Bocchini, Alan F. Scott et al. · Nucleic Acids Research · 2018 · 987 citations · Full text

, , +23

McKusick's Online Mendelian Inheritance in Man (OMIM(R))

Joanna Amberger, Carol Bocchini, Alan F. Scott et al. · Nucleic Acids Research · 2008 · 716 citations · Full text

, , +14

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)

Joanna Amberger, Carol Bocchini, Ada Hamosh · Human Mutation · 2011 · 344 citations

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