Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy Article Swipe
Angela Clara-Hwang
,
Stefani Stefani
,
Tracy Lau
,
Marcello Scala
,
Büşra Aynekin
,
Pia Bernardo
,
Francesca Madia
,
Sophia Bakhtadze
,
Rauan Kaiyrzhanov
,
Reza Maroofian
,
Federico Zara
,
Varunvenkat M. Srinivasan
,
Vykuntaraju K. Gowda
,
Ulviyya Guliyeva
,
Alexandra Montavont
,
Anne‐Lise Poulat
,
Ayten Güleç
,
C. Berger
,
Dorothée Ville
,
Julitta de Bellescize
,
Sara Cabet
,
Antje Wonneberger
,
Alexander Schulz
,
Agustí Rodríguez‐Palmero
,
Nicolas Chatron
,
Gaëtan Lesca
,
Hüseyin Per
,
Himanshu Goel
,
J. Martin Brown
,
Tanja Frey
,
Katharina Steindl
,
Anita Rauch
,
Mariasavina Severino
,
Henry Houlden
,
Paola Nicolaides
,
Pasquale Striano
,
Stéphanie Efthymiou
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1212/nxg.0000000000200168
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1212/nxg.0000000000200168
Our study broadens the geographic scope of CHD2-related phenotypes, providing valuable insights into the prevalence and clinical characteristics of this genetic disorder in previously underrepresented populations.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1212/nxg.0000000000200168
- OA Status
- gold
- Cited By
- 3
- References
- 20
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4400523205
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4400523205Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1212/nxg.0000000000200168Digital Object Identifier
- Title
-
Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related EncephalopathyWork title
- Type
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articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2024Year of publication
- Publication date
-
2024-07-11Full publication date if available
- Authors
-
Angela Clara-Hwang, Stefani Stefani, Tracy Lau, Marcello Scala, Büşra Aynekin, Pia Bernardo, Francesca Madia, Sophia Bakhtadze, Rauan Kaiyrzhanov, Reza Maroofian, Federico Zara, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Ulviyya Guliyeva, Alexandra Montavont, Anne‐Lise Poulat, Ayten Güleç, C. Berger, Dorothée Ville, Julitta de Bellescize, Sara Cabet, Antje Wonneberger, Alexander Schulz, Agustí Rodríguez‐Palmero, Nicolas Chatron, Gaëtan Lesca, Hüseyin Per, Himanshu Goel, J. Martin Brown, Tanja Frey, Katharina Steindl, Anita Rauch, Mariasavina Severino, Henry Houlden, Paola Nicolaides, Pasquale Striano, Stéphanie EfthymiouList of authors in order
- Landing page
-
https://doi.org/10.1212/nxg.0000000000200168Publisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://doi.org/10.1212/nxg.0000000000200168Direct OA link when available
- Concepts
-
Phenotype, Encephalopathy, Clinical phenotype, Genetics, Biology, Medicine, Internal medicine, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
3Total citation count in OpenAlex
- Citations by year (recent)
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2025: 3Per-year citation counts (last 5 years)
- References (count)
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20Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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