Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity Article Swipe
Quentin Thomas
,
Thierry Gautier
,
Dana Marafi
,
Thomas Besnard
,
Marjolaine Willems
,
Sébastien Moutton
,
B. Isidor
,
Benjamin Cogné
,
Solène Conrad
,
Romano Tenconi
,
Maria Iascone
,
Arthur Sorlin
,
Alice Masurel
,
Tabib Dabir
,
Adam Jackson
,
Siddharth Banka
,
Julian Delanne
,
James R. Lupski
,
Nebal Waill Saadi
,
Fowzan S. Alkuraya
,
Fatema Al Zahrani
,
Pankaj B. Agrawal
,
Eleina England
,
Jill A. Madden
,
Jennifer E. Posey
,
Lydie Bürglen
,
Diana Rodriguez
,
Martin Chevarin
,
Sylvie Nguyen
,
Frédéric Tran Mau‐Them
,
Yannis Duffourd
,
Philippine Garret
,
Ange‐Line Bruel
,
Patrick Callier
,
Nathalie Marle
,
Anne‐Sophie Denommé‐Pichon
,
Laurence Duplomb
,
Christophe Philippe
,
Christel Thauvin‐Robinet
,
Jérôme Govin
,
Laurence Faivre
,
Antonio Vitobello
·
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1038/s41436-021-01218-6
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1038/s41436-021-01218-6
Related Topics
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1038/s41436-021-01218-6
- http://www.gimjournal.org/article/S1098360021051315/pdf
- OA Status
- bronze
- Cited By
- 14
- References
- 42
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3167448192
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W3167448192Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1038/s41436-021-01218-6Digital Object Identifier
- Title
-
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivityWork title
- Type
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articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2021Year of publication
- Publication date
-
2021-06-10Full publication date if available
- Authors
-
Quentin Thomas, Thierry Gautier, Dana Marafi, Thomas Besnard, Marjolaine Willems, Sébastien Moutton, B. Isidor, Benjamin Cogné, Solène Conrad, Romano Tenconi, Maria Iascone, Arthur Sorlin, Alice Masurel, Tabib Dabir, Adam Jackson, Siddharth Banka, Julian Delanne, James R. Lupski, Nebal Waill Saadi, Fowzan S. Alkuraya, Fatema Al Zahrani, Pankaj B. Agrawal, Eleina England, Jill A. Madden, Jennifer E. Posey, Lydie Bürglen, Diana Rodriguez, Martin Chevarin, Sylvie Nguyen, Frédéric Tran Mau‐Them, Yannis Duffourd, Philippine Garret, Ange‐Line Bruel, Patrick Callier, Nathalie Marle, Anne‐Sophie Denommé‐Pichon, Laurence Duplomb, Christophe Philippe, Christel Thauvin‐Robinet, Jérôme Govin, Laurence Faivre, Antonio VitobelloList of authors in order
- Landing page
-
https://doi.org/10.1038/s41436-021-01218-6Publisher landing page
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-
https://www.gimjournal.org/article/S1098360021051315/pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
bronzeOpen access status per OpenAlex
- OA URL
-
https://www.gimjournal.org/article/S1098360021051315/pdfDirect OA link when available
- Concepts
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Haploinsufficiency, Epilepsy, Intellectual disability, Expressivity, Medicine, Psychology, Developmental psychology, Genetics, Neuroscience, Psychiatry, Phenotype, Biology, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
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14Total citation count in OpenAlex
- Citations by year (recent)
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2025: 3, 2024: 4, 2023: 2, 2022: 5Per-year citation counts (last 5 years)
- References (count)
-
42Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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