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Year Number of Results
2002 1
2003 1
2004 1
2005 1
2006 2
2007 2
2010 2
2011 2
2012 4
2013 6
2014 5
2015 9
2016 14
2017 5
2018 16
2019 22
2020 31
2021 29
2022 24
2023 22
2024 13

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189 results

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Page 1
Core planar cell polarity genes VANGL1 and VANGL2 in predisposition to congenital vertebral malformations.
Feng X, Ye Y, Zhang J, Zhang Y, Zhao S, Mak JCW, Otomo N, Zhao Z, Niu Y, Yonezawa Y, Li G, Lin M, Li X, Cheung PWH, Xu K, Takeda K, Wang S, Xie J, Kotani T, Choi VNT, Song YQ, Yang Y, Luk KDK, Lee KS, Li Z, Li PS, Leung CYH, Lin X, Wang X, Qiu G; DISCO (Deciphering disorders Involving Scoliosis and COmorbidities) study group; Watanabe K; Japanese Early Onset Scoliosis Research Group; Wu Z, Posey JE, Ikegawa S, Lupski JR, Cheung JPY, Zhang TJ, Gao B, Wu N. Feng X, et al. Among authors: zhao s. Proc Natl Acad Sci U S A. 2024 Apr 30;121(18):e2310283121. doi: 10.1073/pnas.2310283121. Epub 2024 Apr 26. Proc Natl Acad Sci U S A. 2024. PMID: 38669183
The clinical utility and diagnostic implementation of human subject cell transdifferentiation followed by RNA sequencing.
Li S, Zhao S, Sinson JC, Bajic A, Rosenfeld JA, Neeley MB, Pena M, Worley KC, Burrage LC, Weisz-Hubshman M, Ketkar S, Craigen WJ, Clark GD, Lalani S, Bacino CA, Machol K, Chao HT, Potocki L, Emrick L, Sheppard J, Nguyen MTT, Khoramnia A, Hernandez PP, Nagamani SC, Liu Z; Undiagnosed Diseases Network; Eng CM, Lee B, Liu P. Li S, et al. Among authors: zhao s. Am J Hum Genet. 2024 Apr 3:S0002-9297(24)00080-6. doi: 10.1016/j.ajhg.2024.03.007. Online ahead of print. Am J Hum Genet. 2024. PMID: 38593811
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability.
Pérez Baca MDR, Jacobs EZ, Vantomme L, Leblanc P, Bogaert E, Dheedene A, De Cock L, Haghshenas S, Foroutan A, Levy MA, Kerkhof J, McConkey H, Chen CA, Batzir NA, Wang X, Palomares M, Carels M; ZFHX3 consortium; Dermaut B, Sadikovic B, Menten B, Yuan B, Vergult S, Callewaert B. Pérez Baca MDR, et al. Am J Hum Genet. 2024 Mar 7;111(3):509-528. doi: 10.1016/j.ajhg.2024.01.013. Epub 2024 Feb 26. Am J Hum Genet. 2024. PMID: 38412861
Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine.
Zhao S, Zhao H, Zhao L, Cheng X, Zheng Z, Wu M, Wen W, Wang S, Zhou Z, Xie H, Ruan D, Li Q, Liu X, Ou C, Li G, Zhao Z, Chen G, Niu Y, Yin X, Hu Y, Zhang X; Deciphering disorders Involving Scoliosis and COmorbidities (DISCO) study; Liu P, Qiu G, Liu W, Zhao C, Wu Z, Zhang J, Wu N. Zhao S, et al. Nat Commun. 2024 Feb 6;15(1):1125. doi: 10.1038/s41467-024-45442-5. Nat Commun. 2024. PMID: 38321032 Free PMC article.
SIGMA leverages protein structural information to predict the pathogenicity of missense variants.
Zhao H, Du H, Zhao S, Chen Z, Li Y, Xu K, Liu B, Cheng X, Wen W, Li G, Chen G, Zhao Z, Qiu G; Deciphering Disorders Involving Scoliosis & Comorbidities (DISCO) Study; Liu P, Zhang TJ, Wu Z, Wu N. Zhao H, et al. Among authors: zhao s. Cell Rep Methods. 2024 Jan 22;4(1):100687. doi: 10.1016/j.crmeth.2023.100687. Epub 2024 Jan 10. Cell Rep Methods. 2024. PMID: 38211594 Free PMC article.
189 results