Elsevier
American Journal of Human Genetics
,  volume 112 ,  issue 3 ,  pages 554-571

Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum

Iris Verbinnen 1, 2
, 
Sofia Douzgou Houge 3, 4
, 
Tzung-Chien Hsieh 5
, 
Hellen Lesmann 6
, 
Aron Kirchhoff 5
, 
David Geneviève 7
, 
Elise Brimble 8
, 
Lisa Lenaerts 1
, 
Dorien Haesen 1
, 
Rebecca J. Levy 9
, 
Julien Thevenon 10
, 
Laurence Faivre 11, 12
, 
Elysa Marco 13
, 
Jessica X. Chong 14
, 
Mike Bamshad 14, 15
, 
Karynne Patterson 15
, 
Ghayda M. Mirzaa 14, 16
, 
Kimberly Foss 17
, 
William Dobyns 18
, 
Susan M White 19, 20
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Invitae, San Francisco, CA, USA | 
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Cortica Healthcare, San Rafael, CA, USA | 
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Publication type: Journal Article
Publication date: 2025-03-01
Elsevier
scimago Q1
wos Q1
SJR: 4.531
CiteScore: 14.0
Impact factor: 8.1
ISSN: 00029297, 15376605
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GOST |
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GOST Copy
Verbinnen I. et al. Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum // American Journal of Human Genetics. 2025. Vol. 112. No. 3. pp. 554-571.
GOST all authors (up to 50) Copy
Verbinnen I. et al. Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum // American Journal of Human Genetics. 2025. Vol. 112. No. 3. pp. 554-571.
RIS |
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RIS Copy
TY - JOUR
DO - 10.1016/j.ajhg.2025.01.021
UR - https://linkinghub.elsevier.com/retrieve/pii/S0002929725000217
TI - Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum
T2 - American Journal of Human Genetics
AU - Verbinnen, Iris
AU - Douzgou Houge, Sofia
AU - Hsieh, Tzung-Chien
AU - Lesmann, Hellen
AU - Kirchhoff, Aron
AU - Geneviève, David
AU - Brimble, Elise
AU - Lenaerts, Lisa
AU - Haesen, Dorien
AU - Levy, Rebecca J.
AU - Thevenon, Julien
AU - Faivre, Laurence
AU - Marco, Elysa
AU - Chong, Jessica X.
AU - Bamshad, Mike
AU - Patterson, Karynne
AU - Mirzaa, Ghayda M.
AU - Foss, Kimberly
AU - Dobyns, William
AU - White, Susan M
PY - 2025
DA - 2025/03/01
PB - Elsevier
SP - 554-571
IS - 3
VL - 112
SN - 0002-9297
SN - 1537-6605
ER -
BibTex |
Cite this
BibTex (up to 50 authors) Copy
@article{2025_Verbinnen,
author = {Iris Verbinnen and Sofia Douzgou Houge and Tzung-Chien Hsieh and Hellen Lesmann and Aron Kirchhoff and David Geneviève and Elise Brimble and Lisa Lenaerts and Dorien Haesen and Rebecca J. Levy and Julien Thevenon and Laurence Faivre and Elysa Marco and Jessica X. Chong and Mike Bamshad and Karynne Patterson and Ghayda M. Mirzaa and Kimberly Foss and William Dobyns and Susan M White and others},
title = {Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum},
journal = {American Journal of Human Genetics},
year = {2025},
volume = {112},
publisher = {Elsevier},
month = {mar},
url = {https://linkinghub.elsevier.com/retrieve/pii/S0002929725000217},
number = {3},
pages = {554--571},
doi = {10.1016/j.ajhg.2025.01.021}
}
MLA
Cite this
MLA Copy
Verbinnen, Iris, et al. “Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum.” American Journal of Human Genetics, vol. 112, no. 3, Mar. 2025, pp. 554-571. https://linkinghub.elsevier.com/retrieve/pii/S0002929725000217.