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Research Interests

Papers共 304 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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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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O48: International Consortium on Newborn Sequencing (icons) Consensus Guidelines for Gene Selection in Genomic Newborn Screening Programs
Nina Gold, Julie Yeo, Derek Ansel, Mei Baker,Jorune Balciuniene, Jonathan Berg,François Boemer,Wendy Chung,Heidi Cope, David Eckstein, Nicolas Encina,Laurence Faivre,Alessandra Ferlini,Judit Garcia-Villoria,Michael Gelb, Jose Manuel Gonzalez De Aledo Castillo, Katie Golden-Grant, Thomas Minten, Richard Parad,Nidhi Shah,Zornitza Stark, Kristen Sund, Petros Tsipouras, Meekai To,Lilian Downie
Genetics in Medicine Open (2025): 102421
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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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Androgens Mediate Sexual Dimorphism in Pilarowski-Bjornsson Syndrome
Kimberley Jade Anderson, Eirny Tholl Thorolfsdottir, Ilana M Nodelman, Sara Tholl Halldorsdottir, Stefania Benonisdottir, Malak Alghamdi, Naif Almontashiri,Brenda J Barry,Matthias Begemann, Jacquelyn F Britton, Sarah Burke, Benjamin Cogne,Ana S A Cohen, Carles de Diego Boguñá, Evan E Eichler,Elizabeth C Engle,Jill A Fahrner,Laurence Faivre, Mélanie Fradin, Nico Fuhrmann, Christine W Gao, Gunjan Garg, Dagmar Grečmalová, Mina Grippa, Jacqueline R Harris,Kendra Hoekzema, Tova Hershkovitz, Sydney Hubbard, Katrien Janssens, Julie A Jurgens, Stanislav Kmoch,Cordula Knopp, Meral Aktas Koptagel, Farah A Ladha,Pablo Lapunzina, Tobias Lindau,Marije Meuwissen, Andreina Minicucci,Emily Neuhaus,Mathilde Nizon, Lenka Nosková,Kristen Park,Chirag Patel,Rolph Pfundt, Pankaj Prasun, Nils Rahner, Nathaniel H Robin, Carey Ronspies, Jasmin Roohi, Jill Rosenfeld,Margarita Saenz,Carol Saunders,Zornitza Stark,Isabelle Thiffault, Sarah Thull,Danita Velasco, Clara Velmans, Jolijn Verseput,Antonio Vitobello,Tianyun Wang, Karin Weiss,Ingrid M Wentzensen, Genay Pilarowski, Thor Eysteinsson, Madelyn Gillentine,Kári Stefánsson, Agnar Helgason, Gregory D Bowman, Hans Tomas Bjornsson
medRxiv the preprint server for health sciences（2025）
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Using Implementation Science to Navigate the Complexity of Integrating Genomics into Healthcare
Stephanie Best,Jeffrey Braithwaite,Ilias Goranitis,Danya F Vears, Monica Ferrie, Clara L Gaff, Andrew J Mallett, Tiffany Boughtwood,Kathryn N North,Zornitza Stark
Nature medicineno. 6 (2025): 1739-1742
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The Expanding Global Genomics Landscape: Converging Priorities from National Genomics Programs
Caitlin Howley, Matilda A Haas, Wadha A Al Muftah, Robert B Annan,Eric D Green, Bettina Lundgren,Richard H Scott,Zornitza Stark,Patrick Tan,Kathryn N North, Tiffany Boughtwood
American journal of human geneticsno. 4 (2025): 751-763
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Author Statistics

#Papers: 304

#Citation: 7171

H-Index: 40

G-Index: 77

Sociability: 8

Diversity: 3

Activity: 133

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