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1 . Academic Journal
A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy
저자
by
Xinzhuang Yang
;
Dingding Zhang
;
Si Shen
;
Pidong Li
;
Mengjie Li
, et al.
소스
BMC Medical Genomics, Vol 16, Iss 1, Pp 1-9 (2023)
Open Access (BioMed Central)
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7 . Academic Journal
Amniotes co-opt intrinsic genetic instability to protect germ-line genome integrity
저자
by
Yu H. Sun
;
Hongxiao Cui
;
Chi Song
;
Jiafei Teng Shen
;
Xiaoyu Zhuo
, et al.
소스
Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)
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7 . Academic Journal
GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy
저자
by
Jiaxi Yu
;
Xing‐hua Luan
;
Meng Yu
;
Wei Zhang
;
He Lv
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 8, Iss 6, Pp 1330-1342 (2021)
Open Access (Wiley)
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7 . Academic Journal
Single-cell RNA-seq analysis of mouse preimplantation embryos by third-generation sequencing.
저자
by
Xiaoying Fan
;
Dong Tang
;
Yuhan Liao
;
Pidong Li
;
Yu Zhang
, et al.
소스
PLoS Biology, Vol 18, Iss 12, p e3001017 (2020)
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7 . Academic Journal
Genetic origin of sporadic cases and RNA toxicity in neuronal intranuclear inclusion disease.
저자
by
Jianwen Deng
;
Binbin Zhou
;
Jiaxi Yu
;
Xiaochen Han
;
Jianhui Fu
, et al.
소스
Journal of Medical Genetics; May2022, Vol. 59 Issue 5, p462-469, 8p
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7 . Academic Journal
Study of complex structural variations of X-linked deafness-2 based on single-molecule sequencing.
저자
by
Yi Jiang
;
Lihua Wu
;
Shasha Huang
;
Pidong Li
;
Bo Gao
, et al.
소스
Bioscience Reports
. May2021, Vol. 41 Issue 6, p1-9. 9p.
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7 .
Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline
저자
by
Chang Geng
;
Ciliu Zhang
;
Pidong Li
;
Yuanren Tong
;
Baosheng Zhu
, et al.
소스
European Journal of Human Genetics
. 31:504-511
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7 . Academic Journal
Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD).
저자
by
Yi Dai
;
Pidong Li
;
Zhiqiang Wang
;
Fan Liang
;
Fan Yang
, et al.
소스
Journal of Medical Genetics; Feb2020, Vol. 57 Issue 2, p109-120, 12p
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7 . Academic Journal
Long-read sequencing identified repeat expansions in the 5'UTR of the NOTCH2NLC gene from Chinese patients with neuronal intranuclear inclusion disease.
저자
by
Jianwen Deng
;
Muliang Gu
;
Yu Miao
;
Sheng Yao
;
Min Zhu
, et al.
소스
Journal of Medical Genetics; Nov2019, Vol. 56 Issue 11, p758-764, 7p
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7 .
GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy
저자
by
Li Cao
;
Jiaxi Yu
;
Xing-Hua Luan
;
Yun Yuan
;
Lingchao Meng
, et al.
소스
Annals of Clinical and Translational Neurology, Vol 8, Iss 6, Pp 1330-1342 (2021)
Annals of Clinical and Translational Neurology
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