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Kai Wang

children's hospital of philadelphia

29H指数
126论文数
2.6K被引数
收录论文 57
发表时间
Characterization of Large-Scale Mitochondrial DNA Rearrangements Using Complementary Short- and Long-Read Sequencing Approaches利用互补的短读和长读测序方法表征大规模线粒体DNA重排
errGenes
IF2.8
err2026-09-23
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errJing Wang; Joe Chan; Mian Umair Ahsan; Amy Goldstein; Rebecca D. Ganetzky; Sonal Sharma; James T. Peterson; Douglas C. Wallace; Tanaya Jadhav; Ramakrishnan Rajagopalan; Kai Wang
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Genetic requirement for Esrp1 and Esrp2 in vertebrate pituitary morphogenesis
err2025-11-01
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errCarroll, Shannon H.; Schafer, Sogand; Richman, Ariella S.; Wang, Peng; Ahsan, Mian Umair; Tsay, Lisa; Wang, Kai; Liao, Eric C.
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Consistent performance of large language models in rare disease diagnosis across ten languages and 4917 cases大型语言模型在罕见病诊断中的跨十种语言和4917例病例的持续性能
err2025-10-14
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errLeonardo Chimirri; J. Harry Caufield; Yasemin Bridges; Nicolas Matentzoglu; Michael Gargano; Mario Cazalla; Shihan Chen; Daniel Danis; Alexander J.M. Dingemans; Klara Gehle; Petra Gehle; Adam S.L. Graefe; Weihong Gu; Markus S. Ladewig; Pablo Lapunzina; Julián Nevado; Enock Niyonkuru; Soichi Ogishima; Dominik Seelow; Jair A. Tenorio Castaño; Marek Turnovec; Bert B.A. de Vries; Kai Wang; Kyran Wissink; Zafer Yüksel; Gabriele Zucca; Melissa A. Haendel; Christopher J. Mungall; Justin Reese; Peter N. Robinson
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Combining panel-based and whole-transcriptome-based gene fusion detection by long-read sequencing结合基于面板和基于全转录组的基因融合检测的长读长测序
err2025-07-21
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errKarleena Rybacki; Feng Xu; Hannah M. Deutsch; Mian Umair Ahsan; Joe Chan; Zizhuo Liang; Yuanquan Song; Marilyn Li; Kai Wang
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Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders用于诊断儿科罕见疾病的表型驱动分子遗传测试建议
err2024-11-21
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errChen, Fangyi; Ahimaz, Priyanka; Nguyen, Quan M.; Lewis, Rachel; Chung, Wendy K.; Ta, Casey N.; Szigety, Katherine M.; Sheppard, Sarah E.; Campbell, Ian M.; Wang, Kai; Weng, Chunhua; Liu, Cong
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Functional analysis of ESRP1/2 gene variants and CTNND1 isoforms in orofacial cleft pathogenesis
err2024-08-23
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errda Silva, Caroline Caetano; Trevino, Claudio Macias; Mitchell, Jason; Murali, Hemma; Tsimbal, Casey; Dalessandro, Eileen; Carroll, Shannon H.; Kochhar, Simren; Curtis, Sarah W.; Cheng, Ching Hsun Eric; Wang, Feng; Kutschera, Eric; Carstens, Russ P.; Xing, Yi; Wang, Kai; Leslie, Elizabeth J.; Liao, Eric C.
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