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Items: 4

1.
A newborn with a pathogenic variant in ASXL2 expanding the phenotype of SHAPNS: a case report and literature review
Meng Yuan, Yuanyuan Shan, Fanshu Xu, Lin Yang, Chengjun Sun, Ruoqian Cheng, Bingbing Wu, Zhehuan Zhang, Yun Cao, Rong Zhang, Wenhao Zhou, Guoqiang Cheng, Liyuan Hu
Transl Pediatr. 2023 Jan 31; 12(1): 86–96. Published online 2023 Jan 10. doi: 10.21037/tp-22-220
PMCID:
PMC9926125
AbstractArticlePDF–869K
2.
Understanding the phenotypic spectrum of ASXL-related disease: 10 cases and a review of the literature
Vishnu Anand Cuddapah, Holly A. Dubbs, Laura Adang, Steven L. Kugler, Elizabeth M. McCormick, Zarazuela Zolkipli-Cunningham, Xilma R. Ortiz-González, Shana McCormack, Elaine Zackai, Daniel J. Licht, Marni J. Falk, Eric D. Marsh
Am J Med Genet A. Author manuscript; available in PMC 2022 Jun 1.
Published in final edited form as: Am J Med Genet A. 2021 Jun; 185(6): 1700–1711. Published online 2021 Mar 10. doi: 10.1002/ajmg.a.62156
PMCID:
PMC8842511
AbstractArticlePDF–442K
3.
Diagnosis of Shashi-Pena Syndrome Caused by Chromosomal Rearrangement Using Nanopore Sequencing
Ya Wang, Jianxin Tan, Yan Wang, An Liu, Fengchang Qiao, Mingtao Huang, Cuiping Zhang, Jing Zhou, Ping Hu, Zhengfeng Xu
Neurol Genet. 2021 Dec; 7(6): e635. Published online 2021 Nov 23. doi: 10.1212/NXG.0000000000000635
PMCID:
PMC8611502
AbstractArticlePDF–494K
4.
Modeling Bainbridge-Ropers Syndrome in Xenopus laevis Embryos
Hava Lichtig, Artyom Artamonov, Hanna Polevoy, Christine D. Reid, Stephanie L. Bielas, Dale Frank
Front Physiol. 2020; 11: 75. Published online 2020 Feb 18. doi: 10.3389/fphys.2020.00075
PMCID:
PMC7040374
AbstractArticlePDF–3.3M

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