Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)

ACMG Laboratory Quality Assurance Committee

doi:10.1038/s41436-020-0782-9

Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)

ACMG Laboratory Quality Assurance Committee

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	1133-1141
Number of pages	9
Journal	Genetics in Medicine
Volume	22
Issue number	7
DOIs	https://doi.org/10.1038/s41436-020-0782-9
State	Published - Jul 1 2020

Keywords

genomic imprinting
postnatal testing
prenatal testing
uniparental disomy

Access to Document

10.1038/s41436-020-0782-9

Cite this

@article{2345f9b2103a49fbb66d83d4e6539041,

title = "Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)",

keywords = "genomic imprinting, postnatal testing, prenatal testing, uniparental disomy",

author = "{ACMG Laboratory Quality Assurance Committee} and {del Gaudio}, Daniela and Marwan Shinawi and Caroline Astbury and Tayeh, {Marwan K.} and Deak, {Kristen L.} and Gordana Raca",

year = "2020",

month = jul,

day = "1",

doi = "10.1038/s41436-020-0782-9",

language = "English",

volume = "22",

pages = "1133--1141",

journal = "Genetics in Medicine",

issn = "1098-3600",

number = "7",

}

TY - JOUR

T1 - Diagnostic testing for uniparental disomy

T2 - a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)

AU - ACMG Laboratory Quality Assurance Committee

AU - del Gaudio, Daniela

AU - Shinawi, Marwan

AU - Astbury, Caroline

AU - Tayeh, Marwan K.

AU - Deak, Kristen L.

AU - Raca, Gordana

PY - 2020/7/1

Y1 - 2020/7/1

KW - genomic imprinting

KW - postnatal testing

KW - prenatal testing

KW - uniparental disomy

UR - http://www.scopus.com/inward/record.url?scp=85083767693&partnerID=8YFLogxK

U2 - 10.1038/s41436-020-0782-9

DO - 10.1038/s41436-020-0782-9

M3 - Article

C2 - 32296163

AN - SCOPUS:85083767693

SN - 1098-3600

VL - 22

SP - 1133

EP - 1141

JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 7

ER -

Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG)

Keywords

Access to Document

Other files and links

Cite this