Sean C. Daugherty - J. Craig Venter Institute

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论文共 110 篇作者统计合作学者相似作者

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P032: Decoding the genetic tapestry of long chain fatty acid oxidation disorders: Unveiling novel insights with a dynamic locus-specific gene database

Vanessa Rangel Miller, Heather Richbourg,Jerry Vockley, Omid Japalaghi,Moeenaldeen AlSayed,Mark Kiel, Stephanie Monteleone,Peter Baker,Sean Daugherty, Aneal Khan, Lawrence Korngut,Deborah Marsden,

Genetics in Medicine Open (2024): 100909

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Parallel biochemical and genetic testing informs a timely and accurate diagnosis of MPS VII: Findings from 5 years of sponsored testing programs

Vanessa Rangel Miller,Sean Daugherty, Rupal N. Gupta, Madhuri Hegde, Jennifer Johnson,Deborah Marsden,Laura Pollard, Eric Peng, Kate Simmons, Natalie Smith,Nicole Miller

MOLECULAR GENETICS AND METABOLISMno. 2 (2024)

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Revealing the genetic complexity of long-chain fatty acid oxidation disorders: Insights from a dynamic locus-specific gene database

Peter Baker,Vanessa Rangel Miller, Heather Richbourg,Jerry Vockley, Omid Japalaghi,Moeenaldeen AlSayed,Mark J. Kiel, Stephanie Monteleone,Sean Daugherty, Aneal Khan, Lawrence Korgnut,Deborah Marsden,

Molecular Genetics and Metabolismno. 4 (2024): 108206

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Early development of a locus specific database for GUSB, the gene associated with mucopolysaccharidosis type VII: Hints of a higher predicted prevalence

Sean Daugherty,Vanessa Rangel Miller,Roberto Giugliani,Omid Khazaie Japalaghi,Deborah Marsden,Heather McLaughlin,Andrew Willcock,Madhuri Hegde,Nicole Miller

Molecular Genetics and Metabolismno. 2 (2023): 107068-107068

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Rarediseasegenes.com/phex: A comprehensive locus specific database of PHEX gene variants associated with X-linked hypophosphatemia vastly increases the number of known variants

Yves Sabbagh,Sean Daugherty,Soodabeh Sarafrazi,Patrick Boada,Thomas Carpenter,Lauren Chunn,Michael Econs,Scott Eisenbeis,Erik Imel,Britt Johnson,Mark Kiel,Stan Krolczyk,

JOURNAL OF BONE AND MINERAL RESEARCH（2022）

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Cover, Volume 43, Issue 2

Soodabeh Sarafrazi,Sean C. Daugherty,Nicole Miller, Patrick Boada,Thomas O. Carpenter, Lauren Chunn, Kariena Dill,Michael J. Econs, Scott Eisenbeis,Erik A. Imel,Britt Johnson,Mark J. Kiel,

Human Mutationno. 2 (2022)

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Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH)

Soodabeh Sarafrazi,Sean C Daugherty,Nicole Miller,Patrick Boada,Thomas O Carpenter,Lauren Chunn, Kariena Dill,Michael J Econs,Scott Eisenbeis,Erik A Imel,Britt Johnson,Mark J Kiel,

HUMAN MUTATION（2022）

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10061 Assessing immunogenicity of an Ebola vaccine in humans using a systems biology approach

Olivia Martin, Yang Song,Sean C. Daugherty, Rezwan Wahidrcelo B. Sztein,Claire M. Fraser

Journal of Clinical and Translational Science (2021): 87-87

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Comparative Analysis of Genome of Ehrlichia sp. HF, a Model Bacterium to Study Fatal Human Ehrlichiosis

Mingqun Lin,Qingming Xiong,Matthew Chung,Sean C Daugherty,Sushma Nagaraj,Naomi Sengamalay,Sandra Ott,Al Godinez,Luke J Tallon,Lisa Sadzewicz,Claire Fraser,Julie C Dunning Hotopp,

BMC genomics（2021）

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A Comprehensive Locus Specific Database Of Phex Gene Variants Associated With X-Linked Hypophosphatemia Vastly Increases The Number Of Known Variants

Nicole Miller,Sean Daugherty,Soodabeh Sarafrazi,Patrick Boada,Thomas Carpenter,Lauren Chunn,Michael Econs,Scott Eisenbeis,Erik Imel,Britt Johnson,Mark Kiel,Stan Krolczyk,

MOLECULAR GENETICS AND METABOLISM（2021）

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