Elsevier
American Journal of Human Genetics
,  volume 112 ,  issue 3 ,  pages 572-582

Identification of CNTN2 as a genetic modifier of PIGA-CDG in a family with incomplete penetrance and in Drosophila

Holly J Thorpe 1
, 
Brent S Pedersen 1
, 
Miranda Dietze 2
, 
Nichole Link 2
, 
Aaron R. Quinlan 1
, 
Joshua L. Bonkowsky 3, 4
, 
Ashley Thomas 5
, 
Clement Y Chow 1
1
 
2
 
3
 
4
 
Center for Personalized Medicine, Primary Children’s Hospital, Salt Lake City, UT, USA | 
5
 
Publication type: Journal Article
Publication date: 2025-03-01
Elsevier
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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
Thorpe H. J. et al. Identification of CNTN2 as a genetic modifier of PIGA-CDG in a family with incomplete penetrance and in Drosophila // American Journal of Human Genetics. 2025. Vol. 112. No. 3. pp. 572-582.
GOST all authors (up to 50) Copy
Thorpe H. J., Pedersen B. S., Dietze M., Link N., Quinlan A. R., Bonkowsky J. L., Thomas A., Chow C. Y. Identification of CNTN2 as a genetic modifier of PIGA-CDG in a family with incomplete penetrance and in Drosophila // American Journal of Human Genetics. 2025. Vol. 112. No. 3. pp. 572-582.
RIS |
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RIS Copy
TY - JOUR
DO - 10.1016/j.ajhg.2025.01.017
UR - https://linkinghub.elsevier.com/retrieve/pii/S0002929725000175
TI - Identification of CNTN2 as a genetic modifier of PIGA-CDG in a family with incomplete penetrance and in Drosophila
T2 - American Journal of Human Genetics
AU - Thorpe, Holly J
AU - Pedersen, Brent S
AU - Dietze, Miranda
AU - Link, Nichole
AU - Quinlan, Aaron R.
AU - Bonkowsky, Joshua L.
AU - Thomas, Ashley
AU - Chow, Clement Y
PY - 2025
DA - 2025/03/01
PB - Elsevier
SP - 572-582
IS - 3
VL - 112
SN - 0002-9297
SN - 1537-6605
ER -
BibTex |
Cite this
BibTex (up to 50 authors) Copy
@article{2025_Thorpe,
author = {Holly J Thorpe and Brent S Pedersen and Miranda Dietze and Nichole Link and Aaron R. Quinlan and Joshua L. Bonkowsky and Ashley Thomas and Clement Y Chow},
title = {Identification of CNTN2 as a genetic modifier of PIGA-CDG in a family with incomplete penetrance and in Drosophila},
journal = {American Journal of Human Genetics},
year = {2025},
volume = {112},
publisher = {Elsevier},
month = {mar},
url = {https://linkinghub.elsevier.com/retrieve/pii/S0002929725000175},
number = {3},
pages = {572--582},
doi = {10.1016/j.ajhg.2025.01.017}
}
MLA
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MLA Copy
Thorpe, Holly J., et al. “Identification of CNTN2 as a genetic modifier of PIGA-CDG in a family with incomplete penetrance and in Drosophila.” American Journal of Human Genetics, vol. 112, no. 3, Mar. 2025, pp. 572-582. https://linkinghub.elsevier.com/retrieve/pii/S0002929725000175.