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排名必读论文期刊顶会热点AI 简史溯源树小脉星探人才迁徙塔尖人才国防情报追踪开源工具智慧手语
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论文共 47 篇作者统计合作学者相似作者

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Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis
Jenna Pucel,Lauren C Briere,Chloe Reuter, Perman Gochyyev, Undiagnosed Diseases Network,Kimberly LeBlanc
Genetics in medicine : official journal of the American College of Medical Geneticsno. 6 (2024): 101115-101115
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De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders
Yuyang Chen,Ruebena Dawes, Hyung Chul Kim, Sarah L Stenton,Susan Walker,Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma,Alexandra C Martin-Geary, Gabrielle Lemire, Elston N D'Souza,
medRxiv : the preprint server for health sciences (2024)
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Regional Variation in Cardiovascular Genes Enables a Tractable Genome Editing Strategy
Vikki A. Krysov, Rachel H. Wilson, Nicholas S. Ten, Nathan Youlton,Hannah N. De Jong, Shirley Sutton, Yong Huang,Chloe M. Reuter,Megan E. Grove,Matthew T. Wheeler,Euan A. Ashley,Victoria N. Parikh
CIRCULATION-GENOMIC AND PRECISION MEDICINEno. 2 (2024): e004370-e004370
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Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder
Jennefer N. Kohler, Nicole R. Legro,Dustin Baldridge,Jimann Shin, Angela Bowman,Berrak Ugur, Madelyn M. Jackstadt,Leah P. Shriver,Gary J. Patti, Bo Zhang, Wenjia Feng, Anthony R. McAdow,
Genetics in Medicinepp.101166-101166, (2024)
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