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Papers共 70 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
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P637: Reactive Curation of Monogenic Gene-Disease Associations in a Rapid Genome Sequencing Lab*
Katie Golden-Grant, Shahad Olsson, Deepali Shinde, Katarzyna (Kasia) Ellsworth,Lucia Guidugli, Rishona Lavy, Arivudainambi Ramalingam, Kristina Robinson,Jennifer Schleit
Genetics in Medicine Open (2025): 103006
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P623: BeginNGS: Nest Digital Genetics Navigator Facilitates Scale While Preserving Participant Experience and Education
Brandan Schultz,Rebecca Reimers, Ileana Matta, Liana Protopsaltis, Lauren Olsen, Moran Snir, Laura Hayward, Eric Blincow, Corrine Blucher, Jeanne Carroll, Sara Caylor, Thomas Defay, Katarzyna (Kasia) Ellsworth,Annette Feigenbaum,Erwin Frise,Lucia Guidugli,Christian Hansen, Chris Kunard, YongHyun Kwon, Jennie Le, Jeremy Leipzig,Jerica Lenberg, Yupu Liang, Shyamal Mehtalia, William Mowrey, Hung Nguyen, Danny Oh,Gunter Scharer,Jennifer Schleit,Emilie Simmons,Laurie Smith, Lucita Van Der Kraan,Kristen Wigby, Mary Willis, Meredith Wright,Mark Yandell,Stephen Kingsmore
Genetics in Medicine Open (2025): 102471
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Genome-based Newborn Screening for Severe Childhood Genetic Diseases Has High Positive Predictive Value and Sensitivity in a NICU Pilot Trial
Stephen F. Kingsmore,Meredith Wright, Lauren Olsen, Brandan Schultz, Liana Protopsaltis, Dan Averbuj, Eric Blincow,Jeanne Carroll,Sara Caylor,Thomas Defay,Katarzyna Ellsworth,Annette Feigenbaum, Mia Gover,Lucia Guidugli,Christian Hansen, Lucita Van Der Kraan,Chris M. Kunard, Hugh Kwon, Lakshminarasimha Madhavrao, Jeremy Leipzig, Yupu Liang,Rebecca Mardach, William R. Mowrey, Hung Nguyen, Anna-Kaisa Niemi, Danny Oh, Muhammed Saad,Gunter Scharer,Jennifer Schleit, Shyamal S. Mehtalia,Erica Sanford,Laurie D. Smith, Mary J. Willis,Kristen Wigby, Rebecca Reimers
AMERICAN JOURNAL OF HUMAN GENETICSno. 12 (2024)
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1
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Novel Variants Intecrlleading to Catecholaminergic Polymorphic Ventricular Tachycardia
Douglas Jones, Jacob Hartung, Elizabeth Lasalle,Alejandro Borquez, Viridiana Murillo,Lucia Guidugli,Kiely N. James,Stephen F. Kingsmore,Nicole G. Coufal
Life Science Allianceno. 8 (2024): e202402572-e202402572
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Prequalification of Genome-Based Newborn Screening for Severe Childhood Genetic Diseases Through Federated Training Based on Purifying Hyperselection
Stephen F. Kingsmore,Meredith Wright,Laurie D. Smith, Yupu Liang, William R. Mowrey, Liana Protopsaltis,Matthew Bainbridge,Mei Baker,Sergey Batalov, Eric Blincow, Bryant Cao,Sara Caylor,Christina Chambers,Katarzyna Ellsworth,Annette Feigenbaum,Erwin Frise,Lucia Guidugli,Kevin P. Hall,Christian Hansen,Mark Kiel, Lucita van der Kraan, Chad Krilow, Hugh Kwon, Lakshminarasimha Madhavrao,Sebastien Lefebvre, Jeremy Leipzig,Rebecca Mardach,Barry Moore, Danny Oh, Lauren Olsen, Eric Ontiveros,Mallory J. Owen, Rebecca Reimers,Gunter Scharer,Jennifer Schleit, Seth Shelnutt, Shyamal S. Mehtalia,Albert Oriol,Erica Sanford,Steve Schwartz,Kristen Wigby, Mary J. Willis,Mark Yandell,Chris M. Kunard,Thomas Defay
AMERICAN JOURNAL OF HUMAN GENETICSno. 12 (2024)
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1
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Author Statistics

#Papers: 70

#Citation: 2720

H-Index: 25

G-Index: 41

Sociability: 7

Diversity: 3

Activity: 11

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