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Papers共 168 篇Author StatisticsCo-AuthorSimilar Experts

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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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Axenfeld-Rieger Syndrome Associated with a Megabase-Scale Inversion Separating PITX2 from a Conserved Enhancer Locus
Lucas A Mitchell, Joshua Schmidt,Emmanuelle Souzeau,Lachlan S W Knight, Giorgina Maxwell,Andrew Dubowsky, Ridia Lim, Edward Formaini, Matthew Welland,Cas Simons, Daniel G MacArthur, Janey L Wiggs, Jamie E Craig,Owen M Siggs
medRxiv the preprint server for health sciences (2025)
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Saturation Genome Editing of RNU4-2 Reveals Distinct Dominant and Recessive Neurodevelopmental Disorders
Joachim De Jonghe, Hyung Chul Kim, Ayanfeoluwa Adedeji,Elsa Leitão, Ruebena Dawes, Yuyang Chen,Alexander Jm Blakes,Cas Simons, Rocio Rius, Javeria R Alvi,Florence Amblard,Christina Austin-Tse, Sarah Baer, Elsa V Balton,Pierre Blanc,Daniel G Calame,Charles Coutton, Chloe A Cunningham, Nitsuh Dargie,Katrina M Dipple, Haowei Du,Salima El Chehadeh, Ian Glass,Joseph G Gleeson, Olivier Grunewald,Paul Gueguen, Radu Harbuz, Marie-Line Jacquemont,Richard J Leventer, Pierre Marijon, Olfa Messaoud,Tipu Sultan, Christel Thauvin,Catherine Vincent-Delorme,Elif Yilmaz Gulec,Julien Thevenon, Rodrigo Mendez, Daniel G MacArthur,Christel Depienne,Caroline Nava,Nicola Whiffin, Gregory M Findlay
medRxiv the preprint server for health sciences (2025)
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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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Polymorphic Tandem Repeats Influence Cell Type-Specific Gene Expression Across the Human Immune Landscape
Hope A Tanudisastro, Anna S E Cuomo,Ben Weisburd, Matthew Welland, Eleanor Spenceley, Michael Franklin,Angli Xue, Blake Bowen,Kristof Wing,Owen Tang, Michael Gray, Andre L M Reis,Jonathan Margoliash, Nehir E Kurtas, Jeffrey M Pullin,Arthur S Lee,Harrison Brand, Michael Harper, Katalina Bobowik, Michael Silk, John Marshall, Vivian Bakiris, Bindu Swapna Madala, Caitlin Uren, Caitlin Bartie,Anne Senabouth,Harriet Dashnow, Liam Fearnley, Alejandro Martin-Trujillo,Egor Dolzhenko,Zhen Qiao, Stuart M Grieve, Tung Nguyen, Eyal Ben-David, Ling Chen, Kyle Kai-How Farh, Michael Talkowski, Stephen I Alexander,Owen M Siggs, Leonhard Gruenschloss, Hannah R Nicholas, Jennifer Piscionere,Cas Simons,Chris Wallace, Melissa Gymrek, Ira W Deveson, Alex W Hewitt, Gemma A Figtree, Katrina M de Lange,Joseph E Powell, Daniel G MacArthur
bioRxiv the preprint server for biology (2025)
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HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models
Clara Houdayer,A Marie Phillips, Marie Chabbert,Jennifer Bourreau,Reza Maroofian,Henry Houlden,Kay Richards, Nebal Waill Saadi, Eliška Dad'ová, Patrick Van Bogaert, Mailys Rupin,Boris Keren,Perrine Charles, Thomas Smol, Audrey Riquet,Lynn Pais,Anne O'Donnell-Luria, Grace E VanNoy,Allan Bayat,Rikke S Møller,Kern Olofsson,Rami Abou Jamra,Steffen Syrbe,Majed Dasouki,Laurie H Seaver, Jennifer A Sullivan,Vandana Shashi, Fowzan S Alkuraya, Alexis F Poss, J Edward Spence,Rhonda E Schnur,Ian C Forster, Chaseley E Mckenzie,Cas Simons, Min Wang,Penny Snell,Kavitha Kothur, Michael Buckley,Tony Roscioli, Noha Elserafy,Benjamin Dauriat,Vincent Procaccio, Daniel Henrion,Guy Lenaers,Estelle Colin,Nienke E Verbeek, Koen L Van Gassen,Claire Legendre,Dominique Bonneau, Christopher A Reid, Katherine B Howell,Alban Ziegler,Christian Legros
Annals of neurology (2025)
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Analysis of R-loop Forming Regions Identifies RNU2-2 and RNU5B-1 As Neurodevelopmental Disorder Genes
Adam Jackson, Nishi Thaker, Alexander Blakes, Gillian Rice, Sam Griffiths-Jones,Meena Balasubramanian, Jennifer Campbell,Nora Shannon,Jungmin Choi, Juhyeon Hong,David Hunt, Anna de Burca,Soo Yeon Kim, Taekeun Kim,Seungbok Lee, Melody Redman, Rocio Rius,Cas Simons,Tiong Yang Tan, Jamie Ellingford, Raymond T O'Keefe,Jong Hee Chae,Siddharth Banka
Nature geneticsno. 6 (2025): 1362-1366
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Author Statistics

#Papers: 167

#Citation: 5439

H-Index: 36

G-Index: 71

Sociability: 7

Diversity: 3

Activity: 84

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