Yiping Shen

Publication Activity (10 Years)

Years Active: 2018-2023
Publications (10 Years): 16

Top Topics

Tyrosine Kinase

Top Venues

Molecular genetics & genomic medicine

Science advances

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

BMC medical genomics

This page only lists publications with an associated author ORCID identifier.

Publications

Victoria Patterson, Farid Ullah, Laura Bryant, John N Griffin, Alpa Sidhu, Sheila Saliganan, Mackenzie Blaile, Margarita Sifuentes Saenz, Rosemarie Smith, Sara Ellingwood, Dorothy K Grange, Xuyun Hu, Maimaiti Mireguli, Yanfei Luo, Yiping Shen, Maureen S Mulhern, Elaine Zackai, Alyssa L Ritter, Kosaki Izumi, Julia Hoefele, Matias Wagner, Korbinian Maria Riedhammer, Barbara Seitz, Nathaniel H Robin, Dana Goodloe, Cyril Mignot, Boris Keren, Helen Cox, Joanna Jarvis, Maja Hempel, Cynthia Forster Gibson, Frédéric Tran Mau Them, Antonio Vitobello, Ange-Line Bruel, Arthur Sorlin, Sarju G Mehta, F Lucy Raymond, Kelly Gilmore, Bradford C Powell, Karen E Weck, Chumei Li, Anneke T Vulto-van Silfhout, Thea Giacomini, Maria Margherita Mancardi, Andrea Accogli, Vincenzo Salpietro, Federico Zara, Neeta L Vora, Erica E Davis, Rebecca D Burdine, Elizabeth Joyce Bhoj
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish. Science advances 9 (17) (2023)
Victoria Patterson, Farid Ullah, Laura Bryant, John N Griffin, Alpa Sidhu, Sheila Saliganan, Mackenzie Blaile, Margarita Sifuentes Saenz, Rosemarie Smith, Sara Ellingwood, Dorothy K Grange, Xuyun Hu, Maimaiti Mireguli, Yanfei Luo, Yiping Shen, Maureen S Mulhern, Elaine Zackai, Alyssa L Ritter, Kosaki Izumi, Julia Hoefele, Matias Wagner, Korbinian Maria Riedhammer, Barbara Seitz, Nathaniel H Robin, Dana Goodloe, Cyril Mignot, Boris Keren, Helen Cox, Joanna Jarvis, Maja Hempel, Cynthia Forster Gibson, Frédéric Tran Mau Them, Antonio Vitobello, Ange-Line Bruel, Arthur Sorlin, Sarju G Mehta, F Lucy Raymond, Kelly Gilmore, Bradford C Powell, Karen E Weck, Chumei Li, Anneke T Vulto-van Silfhout, Thea Giacomini, Maria Margherita Mancardi, Andrea Accogli, Vincenzo Salpietro, Federico Zara, Neeta L Vora, Erica E Davis, Rebecca D Burdine, Elizabeth Joyce Bhoj
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish. Science advances 9 (17) (2023)
Fang Liu, Chen Liang, Zhengchang Li, Sen Zhao, Haiming Yuan, Ruen Yao, Zailong Qin, Shaofang Shangguan, Shujie Zhang, Li-Ping Zou, Qian Chen, Zhijie Gao, Suiwen Wen, Jing Peng, Fei Yin, Fei Chen, Xiaoxia Qiu, Jingsi Luo, Yingjun Xie, Dian Lu, Yu Zhang, Hua Xie, Guozhuang Li, Terry Jianguo Zhang, Pengfei Luan, Hongying Wang, Xiaodai Cui, Hailiang Huang, Ruize Liu, Xiaofang Sun, Chao Chen, Nan Wu, Jian Wang, Yanling Liu, Yiping Shen, James F Gusella, Guozhuang Li
Haplotype-specific MAPK3 expression in 16p11.2 deletion contributes to variable neurodevelopment. Brain : a journal of neurology (2023)
Xiangbin Jia, Shujie Zhang, Senwei Tan, Bing Du, Mei He, Haisong Qin, Jia Chen, Xinyu Duan, Jingsi Luo, Fei Chen, Luping Ouyang, Jian Wang, Guodong Chen, Bin Yu, Ge Zhang, Zimin Zhang, Yongqing Lyu, Yi Huang, Jian Jiao, Jin Yun Helen Chen, Kathryn J Swoboda, Emanuele Agolini, Antonio Novelli, Chiara Leoni, Giuseppe Zampino, Gerarda Cappuccio, Nicola Brunetti-Pierri, Bénédicte Gérard, Emmanuelle Ginglinger, Julie Richer, Hugh J Mcmillan, Alexandre White-Brown, Kendra Hoekzema, Raphael A Bernier, Evangeline C Kurtz-Nelson, Rachel K Earl, Claartje Meddens, Marielle Alders, Meredith Fuchs, Roseline Caumes, Perrine Brunelle, Thomas Smol, Ryan Kuehl, Debra-Lynn Day-Salvatore, Kristin G Monaghan, Michelle M Morrow, Evan E Eichler, Zhengmao Hu, Ling Yuan, Jieqiong Tan, Kun Xia, Yiping Shen, Hui Guo
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders. Science advances 8 (33) (2022)
Jiasun Su, Weiliang Lu, Mengting Li, Qiang Zhang, Fei Chen, Shang Yi, Qi Yang, Sheng Yi, Xunzhao Zhou, Limei Huang, Yiping Shen, Jingsi Luo, Zailong Qin
Novel compound heterozygous frameshift variants in WDR81 associated with congenital hydrocephalus 3 with brain anomalies: First Chinese prenatal case confirms WDR81 involvement. Molecular genetics & genomic medicine 9 (4) (2021)
Sheng Yi, Yue Zhang, Zailong Qin, Shang Yi, Haiyang Zheng, Jingsi Luo, Qifei Li, Jin Wang, Qi Yang, Mengting Li, Fei Chen, Qiang Zhang, Qinle Zhang, Yiping Shen
A novel and recurrent KLHL40 pathogenic variants in a Chinese family of multiple affected neonates with nemaline myopathy 8. Molecular genetics & genomic medicine 9 (6) (2021)
Li Lin, Mengting Li, Jingsi Luo, Pin Li, Shasha Zhou, Yu Yang, Ka Chen, Ying Weng, Xiuying Ge, Maimaiti Mireguli, Haiyan Wei, Haihua Yang, Guimei Li, Yan Sun, Lanwei Cui, Shulin Zhang, Jing Chen, Guozhang Zeng, Lijun Xu, Xiaoping Luo, Yiping Shen
A High Proportion of Novel ACAN Mutations and Their Prevalence in a Large Cohort of Chinese Short Stature Children. The Journal of clinical endocrinology and metabolism 106 (7) (2021)
Xuyun Hu, Di Wu, Yuchuan Li, Liya Wei, Xiaoqiao Li, Miao Qin, Hongdou Li, Mengting Li, Shaoke Chen, Chunxiu Gong, Yiping Shen
The first familial NSD2 cases with a novel variant in a Chinese father and daughter with atypical WHS facial features and a 7.5-year follow-up of growth hormone therapy. BMC medical genomics 13 (1) (2020)
Wei Li, Xin Fan, Yue Zhang, Limei Huang, Tingting Jiang, Zailong Qin, Jiasun Su, Jingrong Luo, Shang Yi, Shujie Zhang, Yiping Shen
A novel pathogenic frameshift variant unmasked by a large de novo deletion at 13q21.33-q31.1 in a Chinese patient with neuronal ceroid lipofuscinosis type 5. BMC medical genetics 21 (1) (2020)
Weiliang Lu, Mingxing Liang, Jiasun Su, Jin Wang, Lingxiao Li, Shujie Zhang, Zailong Qin, Limei Huang, Yingchi Lu, Shang Yi, Sheng Yi, BoBo Xie, Haiyang Zheng, Jingsi Luo, Xiaoyan Gao, Yiping Shen
Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene-disease relationship. Molecular genetics & genomic medicine 8 (5) (2020)
Zailong Qin, Qi Yang, Shang Yi, Limei Huang, Yiping Shen, Jingsi Luo
Whole-exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature. Molecular genetics & genomic medicine 8 (12) (2020)
Xinran Cheng, Fang Tang, Xuyun Hu, Hongduo Li, Mengting Li, Yiyong Fu, Li Yan, Zhonghui Li, Peng Gou, Na Su, Chunzhu Gong, Weilan He, Rong Xiang, Dongmei Bu, Yiping Shen
Two Chinese Xia-Gibbs syndrome patients with partial growth hormone deficiency. Molecular genetics & genomic medicine 7 (4) (2019)
Yirou Wang, Niu Li, Zhe Su, Yufei Xu, Shijian Liu, Yao Chen, Xin Li, Yiping Shen, Christina Hung, Jian Wang, Xiumin Wang, Olaf A Bodamer
The phenotypic spectrum of Kabuki syndrome in patients of Chinese descent: A case series. American journal of medical genetics. Part A 182 (4) (2019)
Shujie Zhang, Shaoke Chen, Haisong Qin, Haiming Yuan, Yalei Pi, Yu Yang, Hui Huang, Guimei Li, Yan Sun, Zhihua Wang, Huamei Ma, Xiaoling Fu, Ting Zhou, Jian Wang, Huifeng Zhang, Yiping Shen
Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome. Orphanet journal of rare diseases 14 (1) (2019)
Haiming Yuan, Qingming Wang, Yanhui Liu, Wei Yang, Yi He, James F Gusella, Jiage Song, Yiping Shen
A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three-generation Chinese family. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 177 (6) (2018)
Mei Yan, Julaiti Dilihuma, Yanfei Luo, Baoerhan Reyilanmu, Yiping Shen, Maimaiti Mireguli
Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia Journal of clinical research in pediatric endocrinology 11 (2) (2018)