Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome

Karen M Knapp; Rosie Sullivan; Jennie Murray; Gregory Gimenez; Pamela Arn; Precilla D'Souza; Alper Gezdirici; William G Wilson; Andrew Jackson; Carlos R Ferreira; Louise Bicknell

doi:10.1136/jmedgenet-2019-106396

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome

Karen M Knapp, Rosie Sullivan, Jennie Murray, Gregory Gimenez, Pamela Arn, Precilla D'Souza, Alper Gezdirici, William G Wilson, Andrew Jackson, Carlos R Ferreira, Louise Bicknell

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

Original language	English
Journal	Journal of Medical Genetics
Early online date	1 Nov 2019
DOIs	https://doi.org/10.1136/jmedgenet-2019-106396
Publication status	Published - 1 Mar 2020

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10.1136/jmedgenet-2019-106396

MC_UU_00007/5 From Microcephaly to Genome Stability, Inflammation and Growth Regulation
Jackson, A. (Principal Investigator)
1/04/18 → 31/03/23
Project: Research

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title = "Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome",

author = "Knapp, \{Karen M\} and Rosie Sullivan and Jennie Murray and Gregory Gimenez and Pamela Arn and Precilla D'Souza and Alper Gezdirici and Wilson, \{William G\} and Andrew Jackson and Ferreira, \{Carlos R\} and Louise Bicknell",

year = "2020",

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doi = "10.1136/jmedgenet-2019-106396",

language = "English",

journal = "Journal of Medical Genetics",

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T1 - Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome

AU - Knapp, Karen M

AU - Sullivan, Rosie

AU - Murray, Jennie

AU - Gimenez, Gregory

AU - Arn, Pamela

AU - D'Souza, Precilla

AU - Gezdirici, Alper

AU - Wilson, William G

AU - Jackson, Andrew

AU - Ferreira, Carlos R

AU - Bicknell, Louise

PY - 2020/3/1

Y1 - 2020/3/1

U2 - 10.1136/jmedgenet-2019-106396

DO - 10.1136/jmedgenet-2019-106396

M3 - Article

SN - 0022-2593

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

ER -

Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome

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Projects

MC_UU_00007/5 From Microcephaly to Genome Stability, Inflammation and Growth Regulation

Cite this