Genetic control of expression and splicing in developing human brain informs disease mechanisms

Walker, Rebecca L.; Ramaswami, Gokul; Hartl, Christopher; Mancuso, Nicholas; Gandal, Michael J.; de la Torre-Ubieta, Luis; Pasaniuc, Bogdan; Stein, Jason L.; Geschwind, Daniel H.

doi:10.1016/j.cell.2020.04.016

Cited by 34Genetic Associations and EpidemiologyRNA Research and SplicingGenetic Mapping and Diversity in Plants and Animals

Genetic control of expression and splicing in developing human brain informs disease mechanisms

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Walker, Rebecca L., Ramaswami, Gokul, Hartl, Christopher, Mancuso, Nicholas, Gandal, Michael J., de la Torre-Ubieta, Luis, Pasaniuc, Bogdan, Stein, Jason L. +1 more·2020·Cell

DOI 10.1016/j.cell.2020.04.016

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The authors analyzed several studies involving human samples from European and Asian origin and did not find any evidence of rs79570848 being reported as a cis-eQTL related to brain diseases.
“We have analyzed several studies involving human samples from European and Asian origin and did not find any evidence of rs79570848 being reported as a cis-eQTL (defined as variants within 1 Mb of the transcription start site of the regulated gene) related to brain diseases (Walker et al. 2020; de Klein et al. 2023).”
From The Human Accelerated Region HAR202 Controls <i>NPAS3</i> Expression in the Developing Forebrain Displaying Differential Enhancer Activity Between Modern and Archaic Human Sequences (2024) · cites this paper as Walker et al. 2020

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Authors: Walker, R. L., Ramaswami, G., Hartl, C., Mancuso, N., Gandal, M. J., de la Torre-Ubieta, L., Pasaniuc, B., Stein, J. L., & Geschwind, D. H.
Corresponding author: Geschwind, Daniel H.
ORCID: Ramaswami, Gokul
Hartl, Christopher
Mancuso, Nicholas
Gandal, Michael J.
Stein, Jason L.
Geschwind, Daniel H.
Venue: Cell
Publisher: Elsevier BV
Published: 2020-04
Volume: 181
Issue: 3
Pages: 745
ISSN: 0092-8674 (ISSN-L)
DOI: 10.1016/j.cell.2020.04.016
OpenAlex: W4244115338
Cited by: 34
References: 0
Citations by year: 2026: 1 · 2025: 7 · 2024: 11 · 2023: 9 · 2022: 4 · 2021: 1 · 2020: 1
FWCI: 2.20
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 394 d)
Locations: Cell (publishedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › RNA Research and Splicing
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
Keywords: expression quantitative trait loci, splicing quantitative trait loci, human brain development, causal genes, transcription start sites

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Genetic control of expression and splicing in developing human brain informs disease mechanisms

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