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Research Interests

Papers共 236 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
时间
引用量
主题
期刊级别
合作者
合作机构
Identification of CNTN2 As a Genetic Modifier of PIGA-CDG in a Family with Incomplete Penetrance and in Drosophila
Holly J Thorpe,Brent S Pedersen, Miranda Dietze,Nichole Link,Aaron R Quinlan,Joshua L Bonkowsky, Ashley Thomas,Clement Y Chow
American journal of human geneticsno. 3 (2025): 572-582
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An Imperative for Public Sharing of Adverse Events of Gene Therapy Trials
Joshua L Bonkowsky, Deepa S Rajan,Florian Eichler
JAMA neurologyno. 5 (2025): 429-430
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The Utah NeoSeq Project: a Collaborative Multidisciplinary Program to Facilitate Genomic Diagnostics in the Neonatal Intensive Care Unit
Sabrina Malone Jenkins, Rachel N Palmquist,Barry Moore, Steven E Boyden, Thomas J Nicholas,Pinar Bayrak-Toydemir, Rong Mao, J Andrew R Farrell, Carson H Holt, Shawn G Rynearson, Chelsea M Solorzano,Alistair Ward,D Hunter Best, Najla Al-Sweel, Dawn L Bentley,Luca Brunelli, Clement Y Chow, Devin W Close, Michael J Cormier, Malia J Deshotel, Jacob Durtschi, Erik J Eide, Luaiva Floyd, Eric K Fredrickson, Makenzie L Fulmer, Edgar J Hernandez,Ashley L Kapron,Mary Anne Karren, Robert G Lewis,Christine E Miller,L Charles Murtaugh, Kelsey E Nicholson,Katherine Noble, Brendan D O'Fallon, John M O'Shea, David C Pattison,Brent S Pedersen, Brandy J Petersen, Bennet D Peterson,Lucilla Pizzo, Hayley M Reynolds,Paul Rindler, Carrie B Torr,Ting Wen,H Joseph Yost, Jian Zhao,Mark Yandell,Gabor T Marth,Aaron R Quinlan,John C Carey,Brian J Shayota,Martin Tristani-Firouzi,Joshua L Bonkowsky
NPJ genomic medicineno. 1 (2025): 26-26
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Reporting ABCD1 Variants As Actionable Secondary Findings on Exome and Genome Sequencing
Carlos A Dominguez Gonzalez,Nancy B Spinner,Rebecca C Ahrens-Nicklas,Lisa R Young,Laura A Voss, Sara L Reichert,Daniel J Gallo,Julie S Cohen,Joshua L Bonkowsky, Stephanie R Keller,Mariko L Bennett, Amy M Pizzino, Meghan Swantkowski, Kaley Arnold, Jamie L Fraser, Felicity J Emerson, Kelly Miettunen,Ali Fatemi, Keith P Van Haren,Laura Adang,Amy Waldman,Lisa Emrick,Florian Eichler,Adeline Vanderver
Genetics in medicine official journal of the American College of Medical Geneticsno. 7 (2025): 101425-101425
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Author Statistics

#Papers: 236

#Citation: 3782

H-Index: 35

G-Index: 54

Sociability: 7

Diversity: 3

Activity: 45

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  • 学生
  • 导师
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