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Research Interests

Papers共 82 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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Investigation of Perinatal Chromosomal Mosaicism – Using Evidence to Inform Best Practice
Amber Burgess, Ellen Casey, Lorna Williams,David Francis,Vida Petrovic,Nicola Flowers,Mark Pertile, Sebastian Lunke, Meg Wall
Pathology (2025): S35
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Improving Genetic Diagnostic Yield in Familial and Sporadic Cerebral Cavernous Malformations: Detection of Copy Number and Deep Intronic Variants
Neblina Sikta, Samuel Gooley, Timothy E Green, Olivia Hoeper, Tom Witkowski, Caitlin Bennett,David Francis, Joshua Reid, Kevin Mao, Mohammed Awad, Samuel Roberts-Thomson, Kristian Bulluss, Jonathan Clark, Ingrid E Scheffer,Piero Perucca, Mark F Bennett,Melanie Bahlo, Samuel F Berkovic, Michael S Hildebrand
Human molecular genetics (2025)
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Hexasomy of the 15q11q13 Region: a Detailed Report and Review of the Literature
Charissa Y Z Chan, Emma K Baker,David Francis, Kate Milner,David J Amor
European journal of medical genetics (2025): 105023-105023
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Author Statistics

#Papers: 82

#Citation: 1821

H-Index: 24

G-Index: 40

Sociability: 7

Diversity: 3

Activity: 55

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