What’s in a name? Issues to consider when naming Mendelian disorders

for the OMIM curators

doi:10.1038/s41436-020-0851-0

What’s in a name? Issues to consider when naming Mendelian disorders

for the OMIM curators

School of Medicine

Research output: Contribution to journal › Comment/debate › peer-review

2 Scopus citations

Original language	English (US)
Pages (from-to)	1573-1575
Number of pages	3
Journal	Genetics in Medicine
Volume	22
Issue number	10
DOIs	https://doi.org/10.1038/s41436-020-0851-0
State	Published - Oct 1 2020

ASJC Scopus subject areas

Genetics(clinical)

Access to Document

10.1038/s41436-020-0851-0

Cite this

@article{89d8b255dad44735806de54b135498d8,

title = "What{\textquoteright}s in a name? Issues to consider when naming Mendelian disorders",

author = "{for the OMIM curators} and Rasmussen, {Sonja A.} and Ada Hamosh and Joanna Amberger and Cassandra Arnold and Carol Bocchini and O{\textquoteleft}Neill, {Marla J.F.} and Anne Stumpf",

note = "Funding Information: OMIM is funded by the National Human Genome Research Institute: U41HG006627.",

year = "2020",

month = oct,

day = "1",

doi = "10.1038/s41436-020-0851-0",

language = "English (US)",

volume = "22",

pages = "1573--1575",

journal = "Genetics in Medicine",

issn = "1098-3600",

publisher = "Lippincott Williams and Wilkins",

number = "10",

}

TY - JOUR

T1 - What’s in a name? Issues to consider when naming Mendelian disorders

AU - for the OMIM curators

AU - Rasmussen, Sonja A.

AU - Hamosh, Ada

AU - Amberger, Joanna

AU - Arnold, Cassandra

AU - Bocchini, Carol

AU - O‘Neill, Marla J.F.

AU - Stumpf, Anne

N1 - Funding Information: OMIM is funded by the National Human Genome Research Institute: U41HG006627.

PY - 2020/10/1

Y1 - 2020/10/1

UR - http://www.scopus.com/inward/record.url?scp=85086513874&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85086513874&partnerID=8YFLogxK

U2 - 10.1038/s41436-020-0851-0

DO - 10.1038/s41436-020-0851-0

M3 - Comment/debate

C2 - 32555417

AN - SCOPUS:85086513874

SN - 1098-3600

VL - 22

SP - 1573

EP - 1575

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 10

ER -

What’s in a name? Issues to consider when naming Mendelian disorders

ASJC Scopus subject areas

Access to Document

Other files and links

Cite this