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

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10.1038/s41436-020-0782-9

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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",

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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

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SN - 1098-3600

VL - 22

SP - 1133

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JO - Genetics in Medicine

JF - Genetics in Medicine

IS - 7

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

Keywords

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