Yiping Shen

Bio:

Professor Yiping Shen is currently an assistant professor in the Department of Pathology and Neurology at Harvard Medical School, a senior researcher at the Medical Laboratory of Boston Children's Hospital, a medical consultant in the genetic diagnostics laboratory, a researcher at the Massachusetts Institute of Technology's Genomic Medicine Center, and a committee of experts in medical genetics.

For many years, he has been engaged in the research and practice of genetic diagnosis of rare genetic diseases, and he has developed a variety of clinical detection technologies and testing projects. Prof. Shen is committed to providing the best molecular diagnostic and genetic counseling services for patients with genetic diseases, while actively training a new generation of clinical and laboratory geneticists and genetic counselors. He pays attention to relevant policies and strategies for genetic diagnosis and counseling, and promotes the construction of public data and knowledge base platforms related to genetic diagnosis and genetic counseling. At present, Prof. Shen has published more than 200 papers (more than 120 SCI papers), with a total impact factor of> 1000 and a total of> 6400 citations.

In December 2019, Prof. Shen was appointed as guest professor of School of Obstetrics and Gynecology, Zhejiang University School of Medicine.

Publications:

1. Zhang S, Chen S, Qin H, Yuan H, Pi Y, Yang Y, Huang H, Li G, Sun Y, Wang Z, Ma H, Fu X, Zhou T, Wang J, Zhang H, Shen Y. Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome. Orphanet J Rare Dis. 2019 Jun 14;14(1):144. doi: 10.1186/s13023-019-1111-8.
2. Chen F, Yuan H, Wu W, Chen S, Yang Q, Wang J, Zhang Q, Gui B, Fan X, Chen R, Shen Y. Three additional de novo CTCF mutations in Chinese patients help to define an emerging neurodevelopmental disorder. Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):218-225. doi: 10.1002/ajmg.c.31698.
3. Sun L, Liang B, Zhu L, Shen Y, He L. The rise of the genetic counseling profession in China. Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):170-176. doi: 10.1002/ajmg.c.31693.
4. Cheng X, Tang F, Hu X, Li H, Li M, Fu Y, Yan L, Li Z, Gou P, Su N, Gong C, He W, Xiang R, Bu D, Shen Y. Two Chinese Xia-Gibbs syndrome patients with partial growth hormone deficiency. Mol Genet Genomic Med. 2019 Apr;7(4):e00596. doi: 10.1002/mgg3.596.
5. Ding Y, Hu XY, Song YN, Cao BY, Liang XJ, Li HD, Fan X, Chen SK, Shen YP, Gong CX. A report on a girl of Noonan syndrome 9 presenting with bilateral lower limbs lymphedema. Chin Med J (Engl). 2019 Feb;132(4):480-482. doi: 10.1097/CM9.0000000000000096.
6. Liu J, Wu N; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Yang N, Takeda K, Chen W, Li W, Du R, Liu S, Zhou Y, Zhang L, Liu Z, Zuo Y, Zhao S, Blank R, Pehlivan D, Dong S, Zhang J, Shen J, Si N, Wang Y, Liu G, Li S, Zhao Y, Zhao H, Chen Y, Zhao Y, Song X, Hu J, Lin M, Tian Y, Yuan B, Yu K, Niu Y, Yu B, Li X, Chen J, Yan Z, Zhu Q, Meng X, Chen X, Su J, Zhao X, Wang X, Ming Y, Li X, Raggio CL, Zhang B, Weng X, Zhang S, Zhang X, Watanabe K, Matsumoto M; Japan Early Onset Scoliosis Research Group, Jin L, Shen Y, Sobreira NL, Posey JE, Giampietro PF, Valle D; Baylor-Hopkins Center for Mendelian Genomics, Liu P, Wu Z, Ikegawa S, Lupski JR, Zhang F, Qiu G. TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model. Genet Med. 2019 Jan 14. doi: 10.1038/s41436-018-0377-x.
7. Yao R, Yu T, Qing Y, Wang J, Shen Y. Evaluation of copy number variant detection from panel-based next-generation sequencing data. Mol Genet Genomic Med. 2019 Jan;7(1):e00513. doi: 10.1002
8. Li X, Cheng Q, Li N, Chang G, Ding Y, Li J, Shen Y, Wang J, Wang X. SOPH Syndrome with Growth Hormone Deficiency, Normal Bone Age, and Novel Compound Heterozygous Mutations in NBAS. Fetal Pediatr Pathol. 2018 Dec;37(6):404-410. doi: 10.1080
9. Sun Y, Shen J, Hu X, Qiao Y, Yang J, Shen Y, Li GCYP24A1 Variants in Two Chinese Patients with Idiopathic Infantile Hypercalcemia. Fetal Pediatr Pathol. 2019 Jan 11:1-13. doi: 10.1080
10. 10. Liu J, Wu N; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Yang N, Takeda K, Chen W, Li W, Du R, Liu S, Zhou Y, Zhang L, Liu Z, Zuo Y, Zhao S, Blank R, Pehlivan D, Dong S, Zhang J, Shen J, Si N, Wang Y, Liu G, Li S, Zhao Y, Zhao H, Chen Y, Zhao Y, Song X, Hu J, Lin M, Tian Y, Yuan B, Yu K, Niu Y, Yu B, Li X, Chen J, Yan Z, Zhu Q, Meng X, Chen X, Su J, Zhao X, Wang X, Ming Y, Li X, Raggio CL, Zhang B, Weng X, Zhang S, Zhang X, Watanabe K, Matsumoto M; Japan Early Onset Scoliosis Research Group, Jin L, Shen Y, Sobreira NL, Posey JE, Giampietro PF, Valle D; Baylor-Hopkins Center for Mendelian Genomics, Liu P, Wu Z, Ikegawa S, Lupski JR, Zhang F, Qiu G. TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model. Genet Med. 2019 Jan 14. doi: 10.1038
11. Ding Y, Hu XY, Song YN, Cao BY, Liang XJ, Li HD, Fan X, Chen SK, Shen YP, Gong CX. A report on a girl of Noonan syndrome 9 presenting with bilateral lower limbs lymphedema. Chin Med J (Engl). 2019 Feb;132(4):480-482. doi: 10.1097
12. 12. Cheng X, Tang F, Hu X, Li H, Li M, Fu Y, Yan L, Li Z, Gou P, Su N, Gong C, He W, Xiang R, Bu D, Shen Y. Two Chinese Xia-Gibbs syndrome patients with partial growth hormone deficiency. Mol Genet Genomic Med. 2019 Feb 6:e596. doi: 10.1002/mgg3.596.
13. 13. Sun L, Liang B, Zhu L, Shen Y, He L. The rise of the genetic counseling profession in China. Am J Med Genet C Semin Med Genet. 2019 Mar 12. doi: 10.1002/ajmg.c.31693.
14. Chen F, Yuan H, Wu W, Chen S, Yang Q, Wang J, Zhang Q, Gui B, Fan X, Chen R, Shen Y. Three additional de novo CTCF mutations in Chinese patients help to define an emerging neurodevelopmental disorder. Am J Med Genet C Semin Med Genet. 2019 Mar 20. doi: 10.1002/ajmg.c.31698.
15. 15. Yan M, Dilihuma J, Luo Y, Reyilanmu B, Shen Y, Mireguli M.Novel Compound Heterozygous Variants in the LHCGR Gene in a Genetically Male Patient with Female External Genitalia.J Clin Res Pediatr Endocrinol. 2018 Nov 16.
16. 16. Xia D, Zhang C, Lip V, Harris M, Shen Y. Trio-R: a script for assessing maternity and paternity in trio studies performed on Agilent chromosomal microarrays.BMC Med Inform Decis Mak. 2018 Nov 6;18(1):91.
17. 17. Li N, Wang Y, Yang Y, Wang P, Huang H, Xiong S, Sun L, Cheng M, Song C, Cheng X, Ding Y, Chang G, Chen Y, Xu Y, Yu T, Yao RE, Shen Y, Wang X, Wang J.Description of the molecular and phenotypic spectrum of Wiedemann-Steiner syndrome in Chinese patients. Orphanet J Rare Dis. 2018 Oct 11;13(1):178.
18. 18. Chen Y, Li G, Xu Y, Yu T, Zhang Y, Li N, Yao RE, Zhou Y, Wang X, Shen Y, Yin L, Wang J.Targeted exome sequencing identified a novel mutation hotspot and a deletion in Chinese primary hypertrophic osteoarthropathy patients.Clin Chim Acta. 2018 Dec;487:264-269.
19. 19. Yu T, Chang G, Cheng Q, Yao R, Li J, Xu Y, Li G, Ding Y, Qing Y, Li N, Shen Y, Wang X, Wang J.Increased transactivation and impaired repression of β-catenin-mediated transcription associated with a novel SOX3 missense mutation in an X-linked hypopituitarism pedigree with modest growth failure.Mol Cell Endocrinol. 2018 Dec 15;478:133-140.
20. 20. Wang K, Zhao S, Zhang Q, Yuan J, Liu J, Ding X, Song X, Lin J, Du R, Zhou Y, Sugimoto M, Chen W, Yuan B, Liu J, Yan Z, Liu B, Zhang Y, Li X, Niu Y, Long B, Shen Y, Zhang S, Abe K, Su J, Wu Z, Wu N, Liu P, Yang X; Deciphering Disorders Involving Scoliosis & Comorbidities (DISCO) study. Whole-exome sequencing reveals known and novel variants in a cohort of intracranial vertebral-basilar artery dissection (IVAD).J Hum Genet. 2018 Nov;63(11):1119-1128.