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论文共 401 篇作者统计合作学者相似作者

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ClinGen Recuration of Hearing Loss-Associated Genes Demonstrates Significant Changes in Gene-Disease Validity over Time
Kezang C Tshering,Marina T DiStefano,Andrea M Oza,Pamela Ajuyah, Ryan Webb, Enyonam Edoh, Ellie Broeren, Julie Ratliff, Vanessa Gitau, Kelley Paris, Amal Aburyyan, John Alexander,Victoria Albano, Donglin Bai, Kevin T A Booth,Paula I Buonfiglio,Cherine Charfeddine,Viviana Dalamón,Ignacio Del Castillo,Miguel Angel Moreno-Pelayo,Hatice Duzkale, Ben Dorshorst,Rabia Faridi,Margaret Kenna,Morag A Lewis,Minjie Luo, Yu Lu,Rahma Mkaouar,Tatsuo Matsunaga,Kiyomitsu Nara,Arti Pandya,Shelby Redfield,Isabelle Roux,Lisa A Schimmenti,Isabelle Schrauwen,Sherin Shaaban,Jun Shen,Barbara Vona,Richard J Smith,Heidi L Rehm,Hela Azaiez,Ahmad N Abou Tayoun,Sami S Amr, ClinGen Hearing Loss Clinical Domain Working Group
Genetics in medicine official journal of the American College of Medical Geneticsno. 5 (2025): 101392-101392
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P579: Multidimensional Utility of Genomic Autopsy for Infant Mortality
Monica Wojcik,Casie Genetti, Malika Sud, Jill Madden, Kathleen Garvey, Ikeoluwa Osei-Owusu, Nicole Groussis, Sundos Al-Husayni,Pankaj Agrawal, Richard Goldstein,Heidi Rehm,Anne O'Donnell-Luria,Alan Beggs, Ingrid Holm
Genetics in Medicine Open (2025): 102427
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Scalable Automated Reanalysis of Genomic Data in Research and Clinical Rare Disease Cohorts
Matthew Welland, Kaileigh Ahlquist, Paul De Fazio,Christina Austin-Tse,Lynn Pais, Laura Wedd,Samantha Bryen, Rocio Rius, Michael Franklin, Caitlin Morrison,Giles Hall,Laura D Gauthier, Alexander Bloemendal,David Francis,Andrew Mallett,Amali Mallawaarachchi, Paul Lockhart, Richard Leventer,Ingrid Scheffer,Katherine Howell, Karin Kassahn, Hamish Scott,Julie McGaughran,John Christodoulou, David R Thorburn, Bryony Thompson,Chirag Patel, Greg Smith,Anne O'Donnell-Luria, Simon Sadedin,Heidi Rehm,Sebastian Lunke, Miah Wander,Kaitlin E Samocha,Cas Simons, Daniel G MacArthur,Zornitza Stark
medrxiv（2025）
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P416: an Elusive Diagnosis of Congenital Methemoglobinemia Type II
Laura Yeoh, Melanie O'Leary,Christina Austin-Tse, Ikeoluwa Osei-Owusu,Alba Sanchis-Juan,Monica Wojcik,Anne O'Donnell-Luria,Heidi Rehm,Stephanie Sacharow
Genetics in Medicine Open (2025): 103283
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P647: Improving Rare Disease Diagnosis: Performance of an Automated Pipeline for Genomic Reanalysis
Christina Tse, Kaileigh Ahlquist, Matthew Welland, Paul de Fazio,Cas Simons,Lynn Pais,Giles Hall, Jeremiah Wander, Greg Smith, Laura Gauthier,Anne O'Donnell-Luria,Daniel MacArthur,Zornitza Stark,Heidi Rehm, Kaitlin Samocha
Genetics in Medicine Open (2025): 103016
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作者统计

#Papers: 402

#Citation: 58022

H-Index: 82

G-Index: 240

Sociability: 8

Diversity: 3

Activity: 205

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