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James Poulter on Muck Rack

James Poulter

London
As seen in: MSN, BBC, Nature, The Guardian, Yahoo Canada, Frontiers, MDPI, The Conversation, VICE, VICE UK and
Journalist/web developer. #lufc

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Articles

Whole-exome sequencing reveals novel and previously reported variants in genes linked to white matter pathology in neurodevelopmental disorders

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By Naeem Ahmad, Tooba Aleem, Chunyu Liu, Maliha Rashid, Muhammad Asif, Shakir Ullah, Sami Ullah, Usman Baig, Muhammad Moneeb Tariq, Tahir Khan, Lydia Green, James Poulter, Javeria Tehreem
| Nature Verified
Abstract Functional neuronal networks are essential for brain growth and development, with myelin or “white matter” playing a key role not just in neuronal transmission but also in axonal support, maintenance, and repair. Disruption of these networks through genetic variation contributes to a range of neurodevelopmental disorders, including both primary inherited white matter disorders and an ever increasing list of secondary leukodystrophies or leucoencephalopathies.
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Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders

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By Ankur Shubhlal Chaurasia, Anju Shukla, Shruti Pande, Greeshma Purushothama, Purvi Majethia, Namanpreet Kaur, Priyanka Upadhyai, Neha Quadri, Gandham SriLakshmi Bhavani, Dhanya Lakshmi Narayanan, Sheela Nampoothiri, Ataf H. Sabir, Alaa A. Mohammed, Sophie Shaw Verified, Verity Hartill, Christopher Watson, Andrew Fry, James Poulter, William Newman, Paul R. Kasher, Siddharth Banka, Katta M Girisha, Akhil Kanathay Ashokan, Shalini S. Nayak, Afrah Alshammari
| Nature Verified
Abstract Systematic analysis of copy number variants (CNVs) in large datasets is challenging, and there are limited studies of homozygous copy number losses in rare disease exomes.
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Mini brains, big questions: Science is racing ahead of ethics

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By James Poulter
| MSN Verified
In a little over ten years, organoid modelsminiature, lab-grown clusters of cells that imitate real organshave transformed how we study human development and disease while accelerating drug discovery. As a bonus, they've reduced our reliance on animal testing. Subscribe to our newsletter for the latest sci-tech news updates.
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