Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature Article Swipe
Erin Torti
,
Boris Keren
,
Elizabeth E. Palmer
,
Zehua Zhu
,
Alexandra Afenjar
,
Ilse J. Anderson
,
Marisa V. Andrews
,
Celia Atkinson
,
Margaret Au
,
Susan A. Berry
,
Kevin M. Bowling
,
Jackie Boyle
,
Julien Buratti
,
Sara Cathey
,
Perrine Charles
,
Benjamin Cogné
,
Thomas Courtin
,
Luis Escobar
,
Sabra Ledare Finley
,
John M. Graham
,
Dorothy K. Grange
,
Delphine Héron
,
Stacy Hewson
,
Susan M. Hiatt
,
Kathleen Hibbs
,
Parul Jayakar
,
Louisa Kalsner
,
Lise Larcher
,
Gaëtan Lesca
,
Paul R. Mark
,
Kathryn Miller
,
Caroline Nava
,
Mathilde Nizon
,
G. Shashidhar Pai
,
John Pappas
,
Gretchen Parsons
,
Katelyn Payne
,
Audrey Putoux
,
Rachel Rabin
,
Isabelle Sabatier
,
Marwan Shinawi
,
Natasha Shur
,
Steven A. Skinner
,
Stéphanie Valence
,
Hannah Warren
,
Sandra Whalen
,
Amy Crunk
,
Ganka Douglas
,
Kristin G. Monaghan
,
Richard Person
,
Rebecca Willaert
,
Benjamin D. Solomon
,
Jane Juusola
·
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1038/s41436-019-0454-9
YOU?
·
· 2019
· Open Access
·
· DOI: https://doi.org/10.1038/s41436-019-0454-9
Related Topics
Concepts
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1038/s41436-019-0454-9
- https://www.nature.com/articles/s41436-019-0454-9.pdf
- OA Status
- bronze
- Cited By
- 37
- References
- 30
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2914852339
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W2914852339Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1038/s41436-019-0454-9Digital Object Identifier
- Title
-
Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literatureWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2019Year of publication
- Publication date
-
2019-02-10Full publication date if available
- Authors
-
Erin Torti, Boris Keren, Elizabeth E. Palmer, Zehua Zhu, Alexandra Afenjar, Ilse J. Anderson, Marisa V. Andrews, Celia Atkinson, Margaret Au, Susan A. Berry, Kevin M. Bowling, Jackie Boyle, Julien Buratti, Sara Cathey, Perrine Charles, Benjamin Cogné, Thomas Courtin, Luis Escobar, Sabra Ledare Finley, John M. Graham, Dorothy K. Grange, Delphine Héron, Stacy Hewson, Susan M. Hiatt, Kathleen Hibbs, Parul Jayakar, Louisa Kalsner, Lise Larcher, Gaëtan Lesca, Paul R. Mark, Kathryn Miller, Caroline Nava, Mathilde Nizon, G. Shashidhar Pai, John Pappas, Gretchen Parsons, Katelyn Payne, Audrey Putoux, Rachel Rabin, Isabelle Sabatier, Marwan Shinawi, Natasha Shur, Steven A. Skinner, Stéphanie Valence, Hannah Warren, Sandra Whalen, Amy Crunk, Ganka Douglas, Kristin G. Monaghan, Richard Person, Rebecca Willaert, Benjamin D. Solomon, Jane JuusolaList of authors in order
- Landing page
-
https://doi.org/10.1038/s41436-019-0454-9Publisher landing page
- PDF URL
-
https://www.nature.com/articles/s41436-019-0454-9.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
bronzeOpen access status per OpenAlex
- OA URL
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https://www.nature.com/articles/s41436-019-0454-9.pdfDirect OA link when available
- Concepts
-
Exome sequencing, Intellectual disability, Medicine, Craniofacial, Cohort, Pediatrics, Autism, Autism spectrum disorder, Craniosynostoses, Craniosynostosis, Craniofacial abnormality, Psychiatry, Internal medicine, Genetics, Mutation, Biology, Surgery, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
37Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 8, 2024: 8, 2023: 5, 2022: 7, 2021: 4Per-year citation counts (last 5 years)
- References (count)
-
30Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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