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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 82 篇作者统计合作学者相似作者

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P184: Hypermobility clinic: Innovative workflow supporting patients and provider wellness
Kimberly Chapman, Spencer Vause,Seth Berger, Deepika Burkardt,Jamie Fraser,Christina Grant, KeriAnn Kuperman, Amy Lewanda, Darilyn Mahoney, Gabrielle Pomorski, Louise Pyle, Kenneth Rosenbaum,
Genetics in Medicine Open (2024): 101081
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Considerations for reporting variants in novel candidate genes identified during clinical genomic testing
Jessica X Chong,Seth I Berger,Samantha Baxter, Erica Smith, Changrui Xiao,Daniel G Calame, Megan H Hawley, E Andres Rivera-Munoz,Stephanie DiTroia,Michael J Bamshad,Heidi L Rehm
bioRxiv : the preprint server for biology (2024)
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Genome-wide profiling of highly similar paralogous genes using HiFi sequencing
Xiao Chen, Daniel Baker, Egor Dolzhenko, Joseph M Devaney, Jessica Noya, April S Berlyoung, Rhonda Brandon, Kathleen S Hruska, Lucas Lochovsky, Paul Kruszka, Scott Newman,Emily Farrow,
biorxiv（2024）
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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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P204: Primary care electronic medical record features predicting genetics referrals
Cristal Hernandez Hernandez, Nhat Duong, Andrea Cohen, Elmer Rajah,Eric Vilain, Daniel Felten,Andrea Gropman,Seth Berger
Genetics in Medicine Open (2024): 101101
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P247: Expanded phenotype and pathogenesis of the novel TFE3-related lysosomal disorder
Kim Keppler-Noreuil, Sharon Luu,Katryn Furuya,Seth Berger,Eyby Leon
Genetics in Medicine Open (2024): 101143
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P821: Long-read sequencing resolves CYP21A2 alleles in congenital adrenal hyperplasia*
Emmanuèle Délot, Jean Monlong, Xiao Chen,Hayk Barseghyan,Surajit Bhattacharya,Jonathan LoTempio, Brandy McNulty, Shloka Negi, Sara O'Rourke, Alexander Robertson, William Rowell,Seth Berger,
Genetics in Medicine Open (2024): 101732
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P848: Novel structural variant in PDGFB-associated with ectopic intracerebral calcifications
David D'Onofrio, Andrea Cohen, Meredith Gillis,Seth Berger,May Christine Malicdan,William Gahl,David Adams,Camilo Toro, Thomas Cassini
Genetics in Medicine Open (2024): 101759
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