- 基本信息
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导师姓名：
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孙昱
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学科代码：
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100202
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性别：
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女
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学科名称：
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儿科学
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培养单位：
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附属新华医院
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三级学科
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导师类型：
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博士生导师
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专业领域名称：
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联系方式：
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y.sun@live.com
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专业领域代码：
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邮编：
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200092
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邮箱地址：
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y.sun@live.com
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- 研究方向 (点击浏览详细信息)
- 社会任职
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中国妇幼保健协会出生缺陷防治与分子遗传分会青年委员会委员
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上海市医学会分子诊断专科分会遗传疾病学组委员
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- 科研项目
| 20ZR1472700 | CREBBP突变通过影响表观遗传调控导致多种智障综合征的分子机制研究 | 上海市科学技术委员会/上海市自然科学基金项目原创探索类 |
2020-07~2023-06
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50万元
| 课题负责人 |
| 81873724 | CREBBP突变导致非Rubinstein-Taybi智障综合征的分子机 制研究 | 国家自然科学基金 |
2019-01~2022-12
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60万元
| 课题负责人 |
| 2017YQ020 | 上海市卫生系统优秀青年人才 | 上海市卫生与计划生育委员会 |
2017-07~2020-06
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30万元
| 课题负责人 |
| 20154Y0153 | 对DMD基因不连续重复的遗传学研究 | 上海市卫生与计划生育委员会 |
2016-01~2018-12
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2万元
| 课题负责人 |
| 81400872 | 利用外显组测序对不明原因智障家系遗传背景的研究 | 国家自然科学基金青年项目 |
2015-01~2017-12
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22万元
| 课题负责人 |
| 拔尖201401 | 新华医院拔尖人才计划 | 新华医院拔尖人才培育基因 |
2014-10~2017-09
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30万元
| 课题负责人 |
| 14XJ10044 | 针对智力障碍的基因panel测序技术的应用 | 交大医学院 |
2014-06~2016-05
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2.5万元
| 课题负责人 |
- 学术论文
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, Xiantao Ye, Yanjie Fan, Lili Wang, Xiaomei Luo, Huili Liu, Xueren Gao, Zhuwen Gong, Yu Wang, Wenjuan Qiu, Huiwen Zhang, Lianshu Han, Lili Liang, Hui Ye, Bing Xiao, Xuefan Gu#, Yongguo Yu#
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High Detection Rate of Copy Number Variations Using Capture Sequencing Data: A Retrospective Study
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Clinical Chemistry
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2020
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66(3), 455-462
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Bing Xiao*, Xiantao Ye*, Lili Wang, Yanjie Fan, Xuefan Gu, Xing JI,, Yongguo Yu#
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Whole genome low-coverage sequencing concurrently detecting copy number variations and their underlying complex chromosomal rearrangements by systematic breakpoint mapping in intellectual deficiency /developmental delay patients
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Frontiers in Genetics
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2020
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6;11:616
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Bing Xiao, Xing Ji, Wei Wei, Yan Hui,
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A Recurrent Variant in MAGEL2 in Five Siblings with Severe Respiratory Disturbance after Birth
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Molecular Syndromoly
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2020
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10(5):286-290
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Bing Xiao, Lili Wang, Huili Liu, Yanjie Fan, Yan Xu,, Wenjuan Qiu#
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Uniparental isodisomy caused autosomal recessive diseases: NGS‐based analysis allows the concurrent detection of homogenous variants and copy‐neutral loss of heterozygosity
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Molecular Genetics & Genomic Medicine
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2019
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7:e945
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,傅启华,余永国
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高通量测序技术在智力障碍/全面发育迟缓中的临床应用
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中华检验医学杂志
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2019
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42(2):73-76
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Yunjuan He, Xing Ji, Hui Yan, Xiantao Ye, Yu Liu, Wei Wei, Bing Xiao,
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Biallelic UNC80 Mutations Caused Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 in Two Chinese Patients with Variable Phenotypes
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Gene
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2018
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660, 13-17
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Yan Xu, Huanhuan Wang, Bing Xiao, Wei Wei, Yu Liu, Hui Ye, Xiaoming Ying, Yingwei Chen, Xiaoqing Liu, Xing Ji,
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Novel noncontiguous duplications identified with a comprehensive mutation analysis in the DMD gene by DMD gene-targeted sequencing
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Gene
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2018
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645, 113-118
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Bing Xiao, Wenjuan Qiu, Xing Ji, Xiaoqing Liu, Zhuo Huang, Huili Liu, Yanjie Fan, Yan Xu, Yu Liu, Hui Yie, Wei Wei, Hui Yan, Zhuwen Gong, Lixiao Shen,
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Marked yield of re-evaluating phenotype and exome/target sequencing data in 33 individuals with intellectual disabilities
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American Journal of Medical Genetics part A
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2018
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176(1), 107-115
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, Guorui Hu, Huili Liu, Xia Zhang, Zhuo Huang, Hui Yan, Lili Wang, Yanjie Fan, Xuefan Gu, Yongguo Yu
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Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.
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American journal of medical genetics. Part A
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2017
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173(2):510-514
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, Guorui Hu, Jihang Luo, Di Fang, Yongguo Yu, Xiang Wang, Jing Chen, Wenjuan Qiu
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Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia
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Journal of human genetics
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2017
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62(6):647-651
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Charlotte A. Heinen, Monique Losekoot,, Peter J. Watson, Louise Fairall, Sjoerd D. Joustra, Nitash Zwaveling-Soonawala, Wilma Oostdijk, Erica L.T. van den Akker, Mari?lle Alders, Gijs W.E. Santen, Rick R. van Rijn, Wouter A. Dreschler, Olga V. Surovtseva, Nienke R. Biermasz, Raoul C. Hennekam, Jan M. Wit, John W.R. Schwabe, Anita Boelen, Eric Fliers, A.S. Paul van Trotsenburg
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Mutations in TBL1X are associated with central hypothyroidism
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The Journal of Clinical Endocrinology & Metabolism
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2016
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101(12):4564-4573
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Peter E Thijssen, Yuya Ito, Giacomo Grillo, Jun Wang, Guillaume Velasco, Hirohisa Nitta, Motoko Unoki, Minako Yashihara, Mikita Suyama,, Richard JLF Lemmers, Jessica C de Greef, Andrew Gennery, Paolo Picco, Barbara Kloeckener-Gruissem, Tayfun Gungor, Ismail Reisli, Capucine Picard, Kamila Kebaili, Bertrand Roquelaure, Tsuyako Iwai, Ikuko Kondo, Takeo Kubota, Monique M van Ostaijen-Ten Dam, Maarten JD van Tol, Corry Weemaes, Claire Francastel, Silvere M van der Maarel, Hiroyuki Sasaki
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Mutations in CDCA7 and HELLS cause immunodeficiency, centromeric instability and facial anomalies syndrome
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Nature Communication
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2015
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6, Article number: 7870
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, Claudia AL Ruivenkamp, Mariette JV Hoffer, Terry Vrijenhoek, Marjolein Kriek, Christi J van Asperen, Johan T den Dunnen, Gijs WE Santen
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Next generation diagnostics: gene panel, exome or whole genome?
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Human Mutation
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2015
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2015, 36(6), 648-55
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Yan Xu, Bing Xiao, Wen-Ting Jiang, Lei Wang, Hong-Quan Gen, Ying-Wei Chen,, Xing Ji
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A novel mutation identified in PKHD1 by targeted exome sequencing: guiding prenatal diagnosis for an ARPKD family
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Gene
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2014
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(551)1:33-8
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Clare V Logan, Gy?rgy Szabadkai, Jenny A Sharpe, David A Parry, Silvia Torelli, Anne-Marie Childs, Marjolein Kriek, Rahul Phadke, Colin A Johnson, Nicola Roberts, David T Bonthron, Karen A Pysden, Tamieka Whyte, Iulia Munteanu, A Reghan Foley, Gabrielle Wheway, Katarzyna Szymanska, Subaashini Natarajan, Zakia A Abdelhamed, Joanne E Morgan, Helen Roper, Gijs WE Santen, Eric H Niks, W Ludo van der Pol, Dick Lindhout, Anna Raffaello, Diego De Stefani, Johan T den Dunnen,, Ieke Ginjaar, Caroline A Sewry, Matthew Hurles, Rosario Rizzuto, UK10K, Michael R Duchen, Francesco Muntoni, Eamonn Sheridan
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Loss of function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial Ca2+ signaling
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Nature Genetics
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2014
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46(2), 188-93
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Rowida Almomani,, Emmelien Aten, Yvonne Hilhorst-Hofstee, Cacha Peeters-Scholte, Arie van Haeringen, Yvonne Hendriks, Martijn H Breuning, Johan T den Dunnen, Gijs WE Santen, Marjolein Kriek
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GPSM2 and Chudley-McCullough Syndrome: a Dutch founder variant brought to North America
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American Journal of Medical Genetics part A
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2013
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161 (5), 973-976
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Sjoerd D Joustra, AS Paul van Trotsenburg,, Monique Losekoot, Daniel J Bernard, Nienke Biermasz, Wilma Oostdijk, Jan M Wit
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IGSF1 deficiency syndrome: A newly uncovered endocrinopathy.
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Rare Diseases
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2013
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1:e24883
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Sjoerd D Joustra, Nadia Schoenmakers, Luca Persani, Irene Campi, Marco Bonomi, Giorgio Radetti, Paolo Beck-Peccoz, Hongdong Zhu, Timothy ME Davis,, E Pm Corssmit, Natasha M Appelman-Dijkstra, Charlotte A Heinen, Alberto M Pereira, Aimee J Varewijck, Joop AMJL Janssen, Erik Endert, Raoul C Hennekam, M Paola Lombardi, Marcel MAM Mannens, Beata Bak, Daniel J Bernard, Martijn H Breuning, Krishna Chatterjee, Mehul T Dattani, Wilma Oostdijk, Nienke R Biermasz, Jan M Wit, AS Paul van Trotsenburg
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The IGSF1 Deficiency Syndrome: Characteristics of male and female patients
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The Journal of Clinical Endocrinology and Metabolism
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2013
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98(12), 4942-4952
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, Rowida Almomani, Guido Breedveld, Gijs WE Santen, Emmelien Aten, Dirk J Lefeber, Jorrit I Hoff, Esther Brusse, Frans W Verheijen, Rob M Verdijk, Marjolein Kriek, Ben Oostra, Martijn H Breuning, Monique Losekoot, Johan T den Dunnen, Bart P van de Warrenburg, Anneke JA Maat-Kievit
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Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease)
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Human Mutation
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2013
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34 (5), 706-713
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Richard JLF Lemmers, Rabi Tawil, Lisa M Petek, Judit Balog, Gregory J Block, Gijs WE Santen, Amanda M Amell, Patrick J van der Vliet, Rowida Almomani, Kirsten R Straasheijm, Yvonne D Krom, Rinse Klooster,, Johan T den Dunnen, Quinta Helmer, Colleen M Donlin-Smith, George W Padberg, Baziel GM van Engelen, Jessica C de Greef, Annemieke M Aartsma-Rus, Rune R Frants, Marianne de Visser, Claude Desnuelle, Sabrina Sacconi, Galina N Filippova, Bert Bakker, Michael J Bamshad, Stephen J Tapscott, Daniel G Miller, Silvère M van der Maarel
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Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
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Nature Genetics
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2012
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44 (12), 1370-1374
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, Beata Bak, Nadia Schoenmakers, AS Paul van Trotsenburg, Wilma Oostdijk, Peter Voshol, Emma Cambridge, Jacqueline K White, Paul le Tissier, S Neda Mousavy Gharavy, Juan P Martinez-Barbera, Wilhelmina H Stokvis-Brantsma, Thomas Vulsma, Marlies J Kempers, Luca Persani, Irene Campi, Marco Bonomi, Paolo Beck-Peccoz, Hongdong Zhu, Timothy ME Davis, Jose C Moreno, Anita CS Hokken-Koelega, Daria Gorbenko Del Blanco, Adela Escudero, Jayanti J Rangasami , Claudia AL Ruivenkamp, Jeroen FJ Laros, Marjolein Kriek, Sarina G Kant, Cathy AJ Bosch, Nienke R Biermasz, Natasha M Appelman-Dijkstra, Alberto M Pereira, Johan T den Dunnen, Martijn H Breuning, Raoul C Hennekam, Krishna Chatterjee, Mehul T Dattani, Jan M Wit, Daniel J Bernard
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Loss-of-function mutations in IGSF1 cause a novel X-linked syndrome of central hypothyroidism and testicular enlargement
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Nature Genetics
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2012
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44 (12), 1375-1381
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Gijs WE Santen, Emmelien Aten,, Rowida Almomani, Christian Gilissen, Maartje Nielsen, Sarina G Kant, Irina N Snoeck, Els AJ Peeters, Yvonne Hilhorst-Hofstee, Marja W Wessels, Nicolette S den Hollander, Claudia AL Ruivenkamp, Gert-Jan B van Ommen, Martijn H Breuning, Johan T den Dunnen, Arie van Haeringen, Marjolein Kriek
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Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome
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Nature Genetics
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2012
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44 (4), 379-380
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Emmelien Aten,, Rowida Almomani, Gijs WE Santen, Tobias Messemaker, Saskia Maas, Martijn H Breuning, Johan T den Dunnen
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Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome
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Human Mutation
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2012
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34 (3), 430-434
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Gijs WE Santen,, Antoinet CJ Gijsbers, Aurore Carré, Maureen Holvoet, Arie van Haeringen, Saskia AJ Lesnik Oberstein, Akemi Tomoda, Hiroyo Mabe, Michel Polak, Koenraad Devriendt, Claudia AL Ruivenkamp, Emilia K Bijlsma
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Further delineation of the phenotype of chromosome 14q13 deletions:(positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus
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Journal of Medical Genetics
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2012
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49 (6), 366-372
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, Rowida Almomani, Emmelien Aten, Jacopo Celli, Jaap van der Heijden, Hanka Venselaar, Stephen P Robertson, Anna Baroncini, Brunella Franco, Lina Basel-Vanagaite, Emiko Horii, Ricardo Drut, Yavuz Ariyurek, Johan T den Dunnen, Martijn H Breuning
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Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene
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The American Journal of Human Genetics
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2010
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87(1), 146-153
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