Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature Article Swipe
Dmitrijs Rots
,
Eric Chater‐Diehl
,
Alexander J.M. Dingemans
,
Sarah J. Goodman
,
Michelle T. Siu
,
Cheryl Cytrynbaum
,
Sanaa Choufani
,
Ny Hoang
,
Susan Walker
,
Zain Awamleh
,
Joshua Charkow
,
M. Stephen Meyn
,
Rolph Pfundt
,
Tuula Rinne
,
Thatjana Gardeitchik
,
Bert B.A. de Vries
,
A. Chantal Deden
,
Erika Leenders
,
Michael Kwint
,
Constance T. R. M. Stumpel
,
Servi J.C. Stevens
,
Jeroen R. Vermeulen
,
Jeske van Harssel
,
Daniëlle G.M. Bosch
,
Koen L.I. van Gassen
,
Ellen van Binsbergen
,
Christa M. de Geus
,
Hein Brackel
,
Maja Hempel
,
Davor Lessel
,
Jonas Denecke
,
Anne Slavotinek
,
Jonathan B. Strober
,
Amy Crunk
,
Leandra Folk
,
Ingrid M. Wentzensen
,
Hui Yang
,
Fanggeng Zou
,
Francisca Millan
,
Richard Person
,
Yili Xie
,
Shuxi Liu
,
Lilian Bomme Ousager
,
Martin J. Larsen
,
Laura Schultz‐Rogers
,
Éva Morava
,
Eric W. Klee
,
Ian Berry
,
Jennifer Campbell
,
Kristin Lindstrom
,
Brianna Pruniski
,
Ann M. Neumeyer
,
Jessica A. Radley
,
Chanika Phornphutkul
,
Berkley Schmidt
,
William G. Wilson
,
Katrin Õunap
,
Karit Reinson
,
Sander Pajusalu
,
Arie van Haeringen
,
Claudia Ruivenkamp
,
Roos Cuperus
,
Fernando Santos‐Simarro
,
María Palomares‐Bralo
,
Marta Pacio‐Míguez
,
Alyssa Ritter
,
Elizabeth Bhoj
,
Elin Tønne
,
Kristian Tveten
,
Gerarda Cappuccio
,
Nicola Brunetti‐Pierri
,
Leah J. Rowe
,
Jason Bunn
,
Margarita Sáenz
,
Konrad Platzer
,
Mareike Mertens
,
Oana Caluseriu
,
Małgorzata J.M. Nowaczyk
,
Ronald D. Cohn
,
Pekka Kannus
,
Ebba Alkhunaizi
,
David Chitayat
,
Stephen W. Scherer
,
Han G. Brunner
,
Lisenka E.L.M. Vissers
,
Tjitske Kleefstra
,
David A. Koolen
,
Rosanna Weksberg
·
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1016/j.ajhg.2021.04.008
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1016/j.ajhg.2021.04.008
Related Topics
Concepts
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1016/j.ajhg.2021.04.008
- http://www.cell.com/article/S0002929721001397/pdf
- OA Status
- bronze
- Cited By
- 61
- References
- 63
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3157770983
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W3157770983Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1016/j.ajhg.2021.04.008Digital Object Identifier
- Title
-
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signatureWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2021Year of publication
- Publication date
-
2021-04-27Full publication date if available
- Authors
-
Dmitrijs Rots, Eric Chater‐Diehl, Alexander J.M. Dingemans, Sarah J. Goodman, Michelle T. Siu, Cheryl Cytrynbaum, Sanaa Choufani, Ny Hoang, Susan Walker, Zain Awamleh, Joshua Charkow, M. Stephen Meyn, Rolph Pfundt, Tuula Rinne, Thatjana Gardeitchik, Bert B.A. de Vries, A. Chantal Deden, Erika Leenders, Michael Kwint, Constance T. R. M. Stumpel, Servi J.C. Stevens, Jeroen R. Vermeulen, Jeske van Harssel, Daniëlle G.M. Bosch, Koen L.I. van Gassen, Ellen van Binsbergen, Christa M. de Geus, Hein Brackel, Maja Hempel, Davor Lessel, Jonas Denecke, Anne Slavotinek, Jonathan B. Strober, Amy Crunk, Leandra Folk, Ingrid M. Wentzensen, Hui Yang, Fanggeng Zou, Francisca Millan, Richard Person, Yili Xie, Shuxi Liu, Lilian Bomme Ousager, Martin J. Larsen, Laura Schultz‐Rogers, Éva Morava, Eric W. Klee, Ian Berry, Jennifer Campbell, Kristin Lindstrom, Brianna Pruniski, Ann M. Neumeyer, Jessica A. Radley, Chanika Phornphutkul, Berkley Schmidt, William G. Wilson, Katrin Õunap, Karit Reinson, Sander Pajusalu, Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus, Fernando Santos‐Simarro, María Palomares‐Bralo, Marta Pacio‐Míguez, Alyssa Ritter, Elizabeth Bhoj, Elin Tønne, Kristian Tveten, Gerarda Cappuccio, Nicola Brunetti‐Pierri, Leah J. Rowe, Jason Bunn, Margarita Sáenz, Konrad Platzer, Mareike Mertens, Oana Caluseriu, Małgorzata J.M. Nowaczyk, Ronald D. Cohn, Pekka Kannus, Ebba Alkhunaizi, David Chitayat, Stephen W. Scherer, Han G. Brunner, Lisenka E.L.M. Vissers, Tjitske Kleefstra, David A. Koolen, Rosanna WeksbergList of authors in order
- Landing page
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https://doi.org/10.1016/j.ajhg.2021.04.008Publisher landing page
- PDF URL
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https://www.cell.com/article/S0002929721001397/pdfDirect link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
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bronzeOpen access status per OpenAlex
- OA URL
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https://www.cell.com/article/S0002929721001397/pdfDirect OA link when available
- Concepts
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dNaM, Biology, DNA methylation, Genetics, Epigenetics, Haplotype, Gene, Allele, Gene expressionTop concepts (fields/topics) attached by OpenAlex
- Cited by
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61Total citation count in OpenAlex
- Citations by year (recent)
-
2025: 13, 2024: 18, 2023: 16, 2022: 13, 2021: 1Per-year citation counts (last 5 years)
- References (count)
-
63Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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