Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

CF Wright; NM Quaife; L Ramos-Hernández; P Danecek; MP Ferla; KE Samocha; J Kaplanis; EJ Gardner; RY Eberhardt; KR Chao; KJ Karczewski; J Morales; Genomics England Research Consortium

doi:10.1101/2020.11.15.20229807

Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

CF Wright, NM Quaife, L Ramos-Hernández, P Danecek, MP Ferla, KE Samocha, J Kaplanis, EJ Gardner, RY Eberhardt, KR Chao, KJ Karczewski, J Morales, Genomics England Research Consortium

Research output: Other contribution

Original language	Undefined
DOIs	https://doi.org/10.1101/2020.11.15.20229807
Publication status	Published - Nov 2020

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Global Development Institute

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Wright, CF., Quaife, NM., Ramos-Hernández, L., Danecek, P., Ferla, MP., Samocha, KE., Kaplanis, J., Gardner, EJ., Eberhardt, RY., Chao, KR., Karczewski, KJ., Morales, J., & Consortium, G. E. R. (2020, Nov). Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms. https://doi.org/10.1101/2020.11.15.20229807

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title = "Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms",

author = "CF Wright and NM Quaife and L Ramos-Hern{\'a}ndez and P Danecek and MP Ferla and KE Samocha and J Kaplanis and EJ Gardner and RY Eberhardt and KR Chao and KJ Karczewski and J Morales and Consortium, {Genomics England Research}",

year = "2020",

month = nov,

doi = "10.1101/2020.11.15.20229807",

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T1 - Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

AU - Wright, CF

AU - Quaife, NM

AU - Ramos-Hernández, L

AU - Danecek, P

AU - Ferla, MP

AU - Samocha, KE

AU - Kaplanis, J

AU - Gardner, EJ

AU - Eberhardt, RY

AU - Chao, KR

AU - Karczewski, KJ

AU - Morales, J

AU - Consortium, Genomics England Research

PY - 2020/11

Y1 - 2020/11

UR - http://europepmc.org/abstract/PPR/PPR238332

U2 - 10.1101/2020.11.15.20229807

DO - 10.1101/2020.11.15.20229807

M3 - Other contribution

ER -

Non-coding variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms

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