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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 180 篇作者统计合作学者相似作者

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Mono-allelic KCNB2 variants lead to a neurodevelopmental syndrome caused by altered channel inactivation
Shreyas Bhat,Justine Rousseau, Coralie Michaud, Charles Marques Lourenço,Joan M. Stoler,Raymond J. Louie, Lola K. Clarkson,Angie Lichty,Daniel C. Koboldt,Shalini C. Reshmi,Sanjay M. Sisodiya, Eva M.M. Hoytema van Konijnenburg,
The American Journal of Human Genetics (2024)
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P183: Genome sequencing increases the diagnostic yield in exome-negative individuals with rare genetic disorders
Swetha Ramadesikan, Caitlyn Colwell,Mohammad Marhabaie, Leeran Dublin-Ryan,Iftekhar Showpnil, Umamaheswaran Gurusamy,Jesse Hunter, Allison Daley,Elizabeth Varga,Marco Leung, Rolf Stottmann,Bimal Chaudhari,
Genetics in Medicine Open (2024): 101080
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Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review
Umamaheswaran Gurusamy,Swetha Ramadesikan,Mohammad Marhabaie, Caitlyn M. Colwell,Jesse M. Hunter,Marco L. Leung,Elaine R. Mardis,Peter White, Murugu Manickam, Richard K. Wilson,Daniel C. Koboldt
FRONTIERS IN GENETICS (2024): 1298574-1298574
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Clinically significant findings in a decade-long retrospective study of prenatal chromosomal microarray testing
Joie O. Olayiwola,Mohammad Marhabaie,Daniel Koboldt, Theodora Matthews,Amy Siemon,Danielle Mouhlas, Taylor Porter, George Kyle, Cortlandt Myers, Hui Mei, Ying-Chen Claire Hou,Melanie Babcock,
MOLECULAR GENETICS & GENOMIC MEDICINEno. 3 (2024): e2349-e2349
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