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2. Zhao S#, Zhang Y#, Hallgrimsdottir S#, Zuo Y#, Li X, Batkovskyte D, Liu S, Lindelöf H, Wang S, Hammarsjö A, Yang Y, Ye Y, Wang L, Yan Z, Lin J, Yu C, Chen Z, Niu Y, Wang H, Zhao Z, Liu P, Qiu G, Posey JE, Wu Z, Lupski JR, Micule I, Anderlid BM, Voss U, Sulander D, Kuchinskaya E, Nordgren A, Nilsson O; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study, Zhang TJ*, Grigelioniene G*, Wu N*. Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders. NPJ Genom Med. 7(1):11. (IF=8.62) 2022

3. Sun L#, Huang Y#, Zhao S, Zhao J, Yan Z, Guo Y, Lin M, Zhong W, Yin Y, Chen Z, Zhang N, Zhang Y, Zhao Z, Li Q, Wang L, Dong X, Li Y, Li X, Qiu G; DISCO (Deciphering Disorders Involving Scoliosis & Comorbidities) study group, Zhang TJ, Wu Z*, Tian W*, Wu N*. Deciphering the mutational signature of congenital limb malformations. Molecular therapy. Nucleic acids 24:961-970. (IF=8.88) 2021

4. Wang K#, Zhao S#, Xie Z, Zhang M, Zhao H, Cheng X, Zhang Y, Niu Y, Liu J, Zhang TJ, Zhang Y, Wu Z, Chu J*, Yang X*, Wu N*. Exome-wide Analysis of De Novo and Rare Genetic Variants in Patients With Brain Arteriovenous Malformation. Neurology 98(16):e1670-e1678. (IF=9.1) 2022

5. Liu J#, Zhao H#, Huang Y#, Xu S#, Zhou Y, Zhang W, Li J, Ming Y, Wang X, Zhao S, Li K, Dong X, Ma Y, Qian T, Chen X, Xing Z, Zhang Y, Chen H, Liu Z, Pang D, Zhou M, Wu Z, Wang X, Wang X*, Wu N*, Su J*. Genome-wide cell-free DNA methylation analyses improve accuracy of non-invasive diagnostic imaging for early-stage breast cancer. Molecular cancer 20(1): 36. (IF=27.4) 2021

6. Chen N#, Zhao S#, Jolly A#, Wang L#, Pan H#, Yuan J, Chen S, Koch A, Ma C, Tian W, Jia Z, Kang J, Zhao L, Qin C, Fan X, Rall K, Coban-Akdemir Z, Chen Z, Jhangiani S, Liang Z, Niu Y, Li X, Yan Z, Wu Y, Dong S, Song C, Qiu G, Zhang S, Liu P, Posey J E, Zhang F, Luo G, Wu Z, Su J, Zhang J, Chen E Y, Rouskas K, Glentis S, Bacopoulou F, Deligeoroglou E, Chrousos G, Lyonnet S, Polak M, Rosenberg C, Dingeldein I, Bonilla X, Borel C, Gibbs R A, Dietrich J E, Dimas A S, Antonarakis S E, Brucker S Y, Lupski J R, Wu N*, Zhu L*. Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome. American journal of human genetics 108(2): 337-345. (IF=11.03) 2021

7. Liu G#, Zhao H#, Yan Z#, Zhao S, Niu Y, Li X, Wang S, Yang Y, Liu S, Zhang T J, Wu Z, Wu N*. Whole-genome methylation analysis reveals novel epigenetic perturbations of congenital scoliosis. Molecular Therapy Nucleic Acids 23:1281-1287. (IF=8.88) 2021

8. Zhao S#, Zhang Y#, Chen W#, Li W#, Wang S#, Wang L, Zhao Y, Lin M, Ye Y, Lin J, Zheng Y, Liu J, Zhao H, Yan Z, Yang Y, Huang Y, Lin G, Chen Z, Zhang Z, Liu S, Jin L, Wang Z, Chen J, Niu Y, Li X, Wu Y, Wang Y, Du R, Gao N, Zhao H, Yang Y, Liu Y, Tian Y, Li W, Zhao Y, Liu J, Yu B, Zhang N, Yu K, Yang X, Li S, Xu Y, Hu J, Liu Z, Shen J, Zhang S, Su J, Khanshour AM, Kidane YH, Ramo B, Rios JJ, Liu P, Sutton VR, Posey JE, Wu Z, Qiu G, Wise CA, Zhang F, Lupski JR, Zhang J*, Wu N*; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study. Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS) Journal of medical genetics 58(1):41-47. (IF= 6.32) 2021

9. Chen W#, Lin J#, Wang L#, Li X, Zhao S, Liu J, Akdemir Z C, Zhao Y, Du R, Ye Y, Song X, Zhang Y, Yan Z, Yang X, Lin M, Shen J, Wang S, Gao N, Yang Y, Liu Y, Li W, Liu J, Zhang N, Yang X, Xu Y, Zhang J, Delgado M R, Posey J E, Qiu G, Rios J J, Liu P, Wise C A, Zhang F, Wu Z*, Lupski J R*, Wu N*. TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. Human mutation 41(1):182-195. (IF=4.45) 2020

10.  Wu N#  , Ming X#, Xiao J#, Wu Z#, Chen X#, Shinawi M, Shen Y, Yu G, Liu J, Xie H, Gucev Z S, Liu S, Yang N, Al-Kateb H, Chen J, Zhang J, Hauser N, Zhang T, Tasic V, Liu P, Su X, Pan X, Liu C, Wang L, Shen J, Shen J, Chen Y, Zhang T, Zhang J, Choy K W, Wang J, Wang Q, Li S, Zhou W, Guo J, Wang Y, Zhang C, Zhao H, An Y, Zhao Y, Wang J, Liu Z, Zuo Y, Tian Y, Weng X, Sutton V R, Wang H, Ming Y, Kulkarni S, Zhong T P, Giampietro P F, Dunwoodie S L, Cheung S W, Zhang X, Jin L, Lupski J R, Qiu G*, Zhang F*. TBX6 null variants and a common hypomorphic allele in congenital scoliosis. The New England journal of medicine 372(4): 341-350. (IF=55.87, C100, F1000) 2015